Virginia E Kimonis

Title(s)Professor, Pediatrics
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
Phone(714) 456-5791
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    Collapse Research 
    Collapse Research Activities and Funding
    Engineered AAV vectors for combinatorial treatment of rare genetic brain diseases
    NIH R01FD007478Sep 1, 2021 - Aug 31, 2024
    Role: Co-Principal Investigator
    Preclinical Studies in Myopathy and ALS with VCP inhibitor CB5083
    NIH R21AR074746Jan 1, 2019 - Nov 30, 2021
    Role: Principal Investigator
    Translational Studies of Lipidomics-Associated Signaling Pathways in VCP Disease
    NIH R56AR066970Sep 30, 2014 - Jun 30, 2016
    Role: Principal Investigator
    High-fat diet rescues lethality of homozygous knock-in R155H VCP myopathic mice
    NIH R21AR063360Aug 1, 2012 - Jul 31, 2014
    Role: Principal Investigator
    Genetic basis of myopathy with Paget disease of bone
    NIH R01AR050236Aug 15, 2004 - Aug 31, 2009
    Role: Principal Investigator
    Characterization of Familial Myopathy &Paget Disease
    NIH R03AR050161Jul 15, 2003 - Jun 30, 2006
    Role: Principal Investigator
    Translational Studies in VCP Inclusion Body Myopathy with Paget Disease of Bone
    NIH R56AR050236Jul 1, 2003 - Aug 31, 2011
    Role: Principal Investigator
    Clinical &Molecular Analysis of Neuromuscular Disorders
    NIH K02NS002157Jun 25, 2001 - Mar 31, 2002
    Role: Principal Investigator
    NIH R03AR046869Feb 15, 2001 - Jan 31, 2004
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry. Muscle Nerve. 2024 Mar 29. Columbres RCA, Luu V, Nguyen M, Kimonis V. PMID: 38551101.
      View in: PubMed   Mentions:    Fields:    
    2. Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1. Sci Rep. 2024 03 11; 14(1):5917. Columbres RCA, Din S, Gibbs L, Kimonis V. PMID: 38467645; PMCID: PMC10928154.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease. bioRxiv. 2024 Mar 02. Weiss L, Carrer M, Shmara A, Cheng C, Yin H, Ta L, Boock V, Fazeli Y, Chang M, Paguio M, Lee J, Yu H, Martin A, Raben N, Weiss J, Grossman T, Jafar-Nejad P, Kimonis V. PMID: 38464319; PMCID: PMC10925133.
      View in: PubMed   Mentions:
    4. Remote respiratory resistance exercise training improves respiratory function in individuals with VCP multisystem proteinopathy. Neuromuscul Disord. 2024 Jan; 34:68-74. Halseth M, Mahoney R, Hsiou J, Jones HN, Kimonis V. PMID: 38157654.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. J Med Genet. 2023 Nov 08. Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG. PMID: 37940383.
      View in: PubMed   Mentions: 1     Fields:    
    6. Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy. Curr Opin Neurol. 2023 10 01; 36(5):432-440. Boock V, Roy B, Pfeffer G, Kimonis V. PMID: 37678339.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    7. The beauty and complexity of the small heat shock proteins: a report on the proceedings of the fourth workshop on small heat shock proteins. Cell Stress Chaperones. 2023 11; 28(6):621-629. Ecroyd H, Bartelt-Kirbach B, Ben-Zvi A, Bonavita R, Bushman Y, Casarotto E, Cecconi C, Lau WCY, Hibshman JD, Joosten J, Kimonis V, Klevit R, Liberek K, McMenimen KA, Miwa T, Mogk A, Montepietra D, Peters C, Rocchetti MT, Saman D, Sisto A, Secco V, Strauch A, Taguchi H, Tanguay M, Tedesco B, Toth ME, Wang Z, Benesch JLP, Carra S. PMID: 37462824; PMCID: PMC10746627.
      View in: PubMed   Mentions: 2     Fields:    
    8. Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis. Sci Adv. 2023 07 07; 9(27):eadd9984. Coulis G, Jaime D, Guerrero-Juarez C, Kastenschmidt JM, Farahat PK, Nguyen Q, Pervolarakis N, McLinden K, Thurlow L, Movahedi S, Hughes BS, Duarte J, Sorn A, Montoya E, Mozaffar I, Dragan M, Othy S, Joshi T, Hans CP, Kimonis V, MacLean AL, Nie Q, Wallace LM, Harper SQ, Mozaffar T, Hogarth MW, Bhattacharya S, Jaiswal JK, Golann DR, Su Q, Kessenbrock K, Stec M, Spencer MJ, Zamudio JR, Villalta SA. PMID: 37418531; PMCID: PMC10328414.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    9. Effects of enzyme replacement therapy on bone density in late onset Pompe disease. Mol Genet Metab. 2023 11; 140(3):107644. Avanti M, Martin A, Columbres RC, Mozaffar T, Kimonis V. PMID: 37515933.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    10. Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis. bioRxiv. 2023 Apr 18. Coulis G, Jaime D, Guerrero-Juarez C, Kastenschmidt JM, Farahat PK, Nguyen Q, Pervolarakis N, McLinden K, Thurlow L, Movahedi S, Duarte J, Sorn A, Montoya E, Mozaffar I, Dragan M, Othy S, Joshi T, Hans CP, Kimonis V, MacLean AL, Nie Q, Wallace LM, Harper SQ, Mozaffar T, Hogarth MW, Bhattacharya S, Jaiswal JK, Golann DR, Su Q, Kessenbrock K, Stec M, Spencer MJ, Zamudio JR, Villalta SA. PMID: 37131694; PMCID: PMC10153153.
      View in: PubMed   Mentions:
    11. Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy. Ann Clin Transl Neurol. 2023 05; 10(5):686-695. Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz-Manera J, Korb M, Wicklund MP, Milone M, Freimer M, Kushlaf H, Villar-Quiles RN, Stojkovic T, Needham M, Palmio J, Lloyd TE, Keung B, Mozaffar T, Weihl CC, Kimonis V. PMID: 37026610; PMCID: PMC10187720.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1. Genes (Basel). 2023 03 08; 14(3). Columbres RCA, Chin Y, Pratti S, Quinn C, Gonzalez-Cuyar LF, Weiss M, Quintero-Rivera F, Kimonis V. PMID: 36980948; PMCID: PMC10048343.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    13. HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies. Autophagy. 2023 08; 19(8):2217-2239. Tedesco B, Vendredy L, Adriaenssens E, Cozzi M, Asselbergh B, Crippa V, Cristofani R, Rusmini P, Ferrari V, Casarotto E, Chierichetti M, Mina F, Pramaggiore P, Galbiati M, Piccolella M, Baets J, Baeke F, De Rycke R, Mouly V, Laurenzi T, Eberini I, Vihola A, Udd B, Weiss L, Kimonis V, Timmerman V, Poletti A. PMID: 36854646; PMCID: PMC10351472.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    14. Clinical Trials in Prader-Willi Syndrome: A Review. Int J Mol Sci. 2023 Jan 21; 24(3). Mahmoud R, Kimonis V, Butler MG. PMID: 36768472; PMCID: PMC9916985.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    15. Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy. Neurol Genet. 2023 Feb; 9(1):e200037. Shmara A, Gibbs L, Mahoney RP, Hurth K, Goodwill VS, Cuber A, Im R, Pizzo DP, Brown J, Laukaitis C, Mahajan S, Kimonis V. PMID: 36644447; PMCID: PMC9833818.
      View in: PubMed   Mentions: 3  
    16. Polycystic kidney disease complicates renal pathology in a family with Fabry disease. Mol Genet Metab Rep. 2022 Dec; 33:100934. Johar L, Lee G, Martin-Rios A, Hall K, Cheng C, Lombardo D, Pahl M, Kimonis V. PMID: 36406818; PMCID: PMC9672442.
      View in: PubMed   Mentions: 2  
    17. Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice. Orphanet J Rare Dis. 2022 10 24; 17(1):386. Cheng C, Cleak J, Weiss L, Cater H, Stewart M, Wells S, Columbres RC, Shmara A, Morato Torres CA, Zafar F, Schüle B, Neumann J, Hatchwell E, Kimonis V. PMID: 36280881; PMCID: PMC9594925.
      View in: PubMed   Mentions:    Fields:    Translation:Animals
    18. Genetics of Obesity in Humans: A Clinical Review. Int J Mol Sci. 2022 Sep 20; 23(19). Mahmoud R, Kimonis V, Butler MG. PMID: 36232301; PMCID: PMC9569701.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    19. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. J Neurol Neurosurg Psychiatry. 2022 07 27. Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J, VCP International Study Group, VCP International Study Group. PMID: 35896379; PMCID: PMC9880250.
      View in: PubMed   Mentions: 12     Fields:    
    20. A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy. Orphanet J Rare Dis. 2022 07 15; 17(1):272. Shmara A, Perez-Rosendahl M, Murphy K, Kwon A, Smith C, Kimonis V. PMID: 35841038; PMCID: PMC9287862.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    21. Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis. Genes (Basel). 2022 05 27; 13(6). Pfeffer G, Lee G, Pontifex CS, Fanganiello RD, Peck A, Weihl CC, Kimonis V. PMID: 35741724; PMCID: PMC9222868.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    22. Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells. Neuropathol Appl Neurobiol. 2022 08; 48(5):e12818. Ferrari V, Cristofani R, Cicardi ME, Tedesco B, Crippa V, Chierichetti M, Casarotto E, Cozzi M, Mina F, Galbiati M, Piccolella M, Carra S, Vaccari T, Nalbandian A, Kimonis V, Fortuna TR, Pandey UB, Gagliani MC, Cortese K, Rusmini P, Poletti A. PMID: 35501124; PMCID: PMC10588520.
      View in: PubMed   Mentions: 2     Fields:    Translation:AnimalsCells
    23. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 07; 43(7):900-918. Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Caldas Rosa ECC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban-Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. PMID: 35344616; PMCID: PMC9177636.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    24. Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader-Willi Syndrome. J Clin Med. 2022 May 04; 11(9). Mahmoud R, Swanson HD, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Osann K, Dykens E, Driscoll DJ, Kimonis V. PMID: 35566699; PMCID: PMC9104315.
      View in: PubMed   Mentions:
    25. Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study. Mol Genet Metab Rep. 2022 Jun; 31:100862. Wanner C, Kimonis V, Politei J, Warnock DG, Üçeyler N, Frey A, Cornelisse P, Hughes D. PMID: 35782623; PMCID: PMC9248229.
      View in: PubMed   Mentions: 4  
    26. Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants. Eur J Med Genet. 2022 Jun; 65(6):104480. Choy N, Wang S, Abbona P, Leffler D, Kimonis V. PMID: 35306227.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    27. Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study. Neuromuscul Disord. 2022 04; 32(4):284-294. Bhatnagar C, Shah J, Ramani B, Surampalli A, Avanti M, Radom-Aizik S, Knight M, Weiss L, Caiozzo V, Kimonis V. PMID: 35365393.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    28. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet J Rare Dis. 2022 01 29; 17(1):23. Korb M, Peck A, Alfano LN, Berger KI, James MK, Ghoshal N, Healzer E, Henchcliffe C, Khan S, Mammen PPA, Patel S, Pfeffer G, Ralston SH, Roy B, Seeley WW, Swenson A, Mozaffar T, Weihl C, Kimonis V, VCP Standards of Care Working Group. PMID: 35093159; PMCID: PMC8800193.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    29. VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy. J Transl Med. 2022 01 08; 20(1):21. Cheng C, Weiss L, Leinonen H, Shmara A, Yin HZ, Ton T, Do A, Lee J, Ta L, Mohanty E, Vargas J, Weiss J, Palczewski K, Kimonis V. PMID: 34998409; PMCID: PMC8742393.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    30. Regional Strain Pattern and Correlation with Cardiac Magnetic Resonance Imaging in Fabry Disease. J Cardiovasc Echogr. 2021 Jul-Sep; 31(3):131-136. Wang SC, Tapia D, Kimonis VE, Lombardo DM. PMID: 34900547; PMCID: PMC8603780.
      View in: PubMed   Mentions: 2  
    31. Prevalence of cerebral small vessel disease in a Fabry disease cohort. Mol Genet Metab Rep. 2021 Dec; 29:100815. Tapia D, Floriolli D, Han E, Lee G, Paganini-Hill A, Wang S, Zandihaghighi S, Kimonis V, Fisher M. PMID: 34745889; PMCID: PMC8551215.
      View in: PubMed   Mentions: 4  
    32. Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease. Mol Genet Metab Rep. 2021 Dec; 29:100802. Mahoney R, Lee GK, Zepeda JP, Gabriel C, Hall K, Edwards R, Kimonis V. PMID: 34545322; PMCID: PMC8443332.
      View in: PubMed   Mentions: 2  
    33. Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes. Pediatr Neurol. 2021 10; 123:30-37. Veatch OJ, Malow BA, Lee HS, Knight A, Barrish JO, Neul JL, Lane JB, Skinner SA, Kaufmann WE, Miller JL, Driscoll DJ, Bird LM, Butler MG, Dykens EM, Gold JA, Kimonis V, Bacino CA, Tan WH, Kothare SV, Peters SU, Percy AK, Glaze DG. PMID: 34388423; PMCID: PMC8429141.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    34. Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele. Neurol Genet. 2021 Aug; 7(4):e595. Kirby AE, Kimonis V, Kompoliti K. PMID: 34395867; PMCID: PMC8362347.
      View in: PubMed   Mentions: 3  
    35. Characteristics of VCP mutation-associated cardiomyopathy. Neuromuscul Disord. 2021 08; 31(8):701-705. Wang SC, Smith CD, Lombardo DM, Kimonis V. PMID: 34244020.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    36. Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome. J Med Genet. 2022 07; 59(7):719-722. Huang Y, Grand K, Kimonis V, Butler MG, Jain S, Huang AY, Martinez-Agosto JA, Nelson SF, Sanchez-Lara PA. PMID: 34099539.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    37. A unique case of progressive hemifacial microsomia or Parry-Romberg syndrome associated with limb and brain anomalies with normal neurological findings: A review of the literature. Eur J Med Genet. 2021 Sep; 64(9):104234. Pattnaik A, Lim A, Sabeti S, Kwon A, Hall K, Lott I, Kimonis V. PMID: 34082156.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    38. A p97/Valosin-Containing Protein Inhibitor Drug CB-5083 Has a Potent but Reversible Off-Target Effect on Phosphodiesterase-6. J Pharmacol Exp Ther. 2021 07; 378(1):31-41. Leinonen H, Cheng C, Pitkänen M, Sander CL, Zhang J, Saeid S, Turunen T, Shmara A, Weiss L, Ta L, Ton T, Koskelainen A, Vargas JD, Kimonis V, Palczewski K. PMID: 33931547; PMCID: PMC8456514.
      View in: PubMed   Mentions: 12     Fields:    Translation:Animals
    39. Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study. Clin Genet. 2021 07; 100(1):29-39. Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V. PMID: 33615449; PMCID: PMC8568051.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    40. Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy. Hum Mol Genet. 2021 02 25; 29(24):3945-3953. Weiss L, Jung KM, Nalbandian A, Llewellyn K, Yu H, Ta L, Chang I, Migliore M, Squire E, Ahmed F, Piomelli D, Kimonis V. PMID: 33410456; PMCID: PMC8485215.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    41. Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy. Mol Genet Metab Rep. 2021 Mar; 26:100700. Dutra-Clarke M, Tapia D, Curtin E, Rünger D, Lee GK, Lakatos A, Alandy-Dy Z, Freedkin L, Hall K, Ercelen N, Alandy-Dy J, Knight M, Pahl M, Lombardo D, Kimonis V. PMID: 33437642; PMCID: PMC7788237.
      View in: PubMed   Mentions: 5  
    42. Stroke and Chronic Kidney Disease in Fabry Disease. J Stroke Cerebrovasc Dis. 2021 Sep; 30(9):105423. Tapia D, Kimonis V. PMID: 33160817.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    43. Multisystem proteinopathy: Where myopathy and motor neuron disease converge. Muscle Nerve. 2021 04; 63(4):442-454. Korb MK, Kimonis VE, Mozaffar T. PMID: 33145792.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    44. Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome. Genes (Basel). 2020 10 23; 11(11). Montes AS, Osann KE, Gold JA, Tamura RN, Driscoll DJ, Butler MG, Kimonis VE. PMID: 33114160; PMCID: PMC7690822.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    45. Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease. Mol Genet Metab Rep. 2020 Dec; 25:100663. Bonesteele G, Gargus JJ, Curtin E, Tang M, Rosenbloom B, Kimonis V. PMID: 33101982; PMCID: PMC7578544.
      View in: PubMed   Mentions: 4  
    46. A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report. JBJS Case Connect. 2020 Jul-Sep; 10(3):e19.00400. Owhonda RA, Wells JE, Lloyd EW, Mumm S, Kimonis V. PMID: 32668141.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    47. NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. J Med Genet. 2021 05; 58(5):314-325. Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS. PMID: 32518176.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    48. Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree. Am J Med Sci. 2020 12; 360(6):724-727. Choi G, Kimonis V, Hall K, Lau WL. PMID: 32703534.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    49. Expression level of R155H mRNA in the knock-in mouse model. Biochem Biophys Res Commun. 2020 03 19; 523(4):985-986. Cheng C, Weiss L, Ta L, Kimonis V. PMID: 31973812.
      View in: PubMed   Mentions:    Fields:    Translation:Animals
    50. Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome. Am J Med Genet A. 2020 01; 182(1):169-175. Oldzej J, Manazir J, Gold JA, Mahmoud R, Osann K, Flodman P, Cassidy SB, Kimonis VE. PMID: 31782896.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    51. Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities. Genes (Basel). 2019 11 06; 10(11). Kimonis VE, Tamura R, Gold JA, Patel N, Surampalli A, Manazir J, Miller JL, Roof E, Dykens E, Butler MG, Driscoll DJ. PMID: 31698873; PMCID: PMC6896038.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    52. Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report. Clin Neurol Neurosurg. 2020 02; 189:105553. Rose L, Hall K, Tang S, Hasadsri L, Kimonis V. PMID: 31812852.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    53. A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet J Rare Dis. 2019 10 22; 14(1):232. Han J, Bichell TJ, Golden S, Anselm I, Waisbren S, Bacino CA, Peters SU, Bird LM, Kimonis V. PMID: 31640736; PMCID: PMC6806546.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    54. A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome. PLoS One. 2019; 14(9):e0221615. Kimonis V, Surampalli A, Wencel M, Gold JA, Cowen NM. PMID: 31545799; PMCID: PMC6756513.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCTClinical Trials
    55. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. Hum Mutat. 2019 11; 40(11):2146-2164. Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS. PMID: 31342611; PMCID: PMC6852536.
      View in: PubMed   Mentions: 34     Fields:    Translation:Humans
    56. Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index. Am J Med Genet A. 2019 09; 179(9):1826-1835. Butler MG, Matthews NA, Patel N, Surampalli A, Gold JA, Khare M, Thompson T, Cassidy SB, Kimonis VE. PMID: 31313492; PMCID: PMC7737232.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    57. New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy. Neurol Genet. 2019 Aug; 5(4):e349. Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V. PMID: 31403083; PMCID: PMC6659134.
      View in: PubMed   Mentions: 17  
    58. Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease. Ann Transl Med. 2019 Jul; 7(13):276. Alandy-Dy J, Wencel M, Hall K, Simon J, Chen Y, Valenti E, Yang J, Bali D, Lakatos A, Goyal N, Mozaffar T, Kimonis V. PMID: 31392188; PMCID: PMC6642945.
      View in: PubMed   Mentions: 6  
    59. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain. J Med Genet. 2019 10; 56(10):693-700. Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM. PMID: 31243061; PMCID: PMC6800092.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    60. Birth seasonality studies in a large Prader-Willi syndrome cohort. Am J Med Genet A. 2019 08; 179(8):1531-1534. Butler MG, Kimonis V, Dykens E, Gold JA, Tamura R, Miller JL, Driscoll DJ. PMID: 31225937; PMCID: PMC7159461.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCellsPHPublic Health
    61. Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders. Nucleic Acids Res. 2019 06 04; 47(10):e59. Hjelm BE, Rollins B, Morgan L, Sequeira A, Mamdani F, Pereira F, Damas J, Webb MG, Weber MD, Schatzberg AF, Barchas JD, Lee FS, Akil H, Watson SJ, Myers RM, Chao EC, Kimonis V, Thompson PM, Bunney WE, Vawter MP. PMID: 30869147; PMCID: PMC6547454.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    62. Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype. Neurosci Lett. 2019 04 23; 699:195-198. Parker J, Mozaffar T, Messmore A, Deignan JL, Kimonis VE, Ringman JM. PMID: 30716424; PMCID: PMC7759143.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    63. ALG11-CDG syndrome: Expanding the phenotype. Am J Med Genet A. 2019 03; 179(3):498-502. Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA. PMID: 30676690; PMCID: PMC6426632.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    64. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. PMID: 30614194; PMCID: PMC6367950.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    65. Contributing factors of mortality in Prader-Willi syndrome. Am J Med Genet A. 2019 02; 179(2):196-205. Proffitt J, Osann K, McManus B, Kimonis VE, Heinemann J, Butler MG, Stevenson DA, Gold JA. PMID: 30569567; PMCID: PMC6349475.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    66. Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes. Am J Med Genet A. 2019 01; 179(1):29-36. Mahmoud R, Singh P, Weiss L, Lakatos A, Oakes M, Hossain W, Butler MG, Kimonis V. PMID: 30556641; PMCID: PMC6347555.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCellsPHPublic Health
    67. Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica. Hum Mol Genet. 2018 11 01; 27(21):3697-3709. Maclean AE, Kimonis VE, Balk J. PMID: 29982452; PMCID: PMC6196649.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    68. Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy. Mitochondrion. 2019 05; 46:262-269. Ham M, Han J, Osann K, Smith M, Kimonis V. PMID: 30165240.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    69. Phenotypic diversity of patients diagnosed with VACTERL association. Am J Med Genet A. 2018 09; 176(9):1830-1837. Husain M, Dutra-Clarke M, Lemieux B, Wencel M, Solomon BD, Kimonis V. PMID: 30152190.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    70. A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene. Neuromuscul Disord. 2018 09; 28(9):778-786. Plewa J, Surampalli A, Wencel M, Milad M, Donkervoort S, Caiozzo VJ, Goyal N, Mozaffar T, Kimonis V. PMID: 30097247; PMCID: PMC6490182.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    71. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. J Med Genet. 2018 09; 55(9):594-598. Singh P, Mahmoud R, Gold JA, Miller JL, Roof E, Tamura R, Dykens E, Butler MG, Driscoll DJ, Kimonis V. PMID: 29776967; PMCID: PMC6107376.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    72. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. J Med Genet. 2019 03; 56(3):149-153. Butler MG, Hartin SN, Hossain WA, Manzardo AM, Kimonis V, Dykens E, Gold JA, Kim SJ, Weisensel N, Tamura R, Miller JL, Driscoll DJ. PMID: 29730598; PMCID: PMC7387113.
      View in: PubMed   Mentions: 75     Fields:    Translation:HumansCells
    73. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. Am J Med Genet A. 2018 05; 176(5):1161-1165. Gold JA, Mahmoud R, Cassidy SB, Kimonis V. PMID: 29681103; PMCID: PMC5918292.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansPHPublic Health
    74. Novel valosin-containing protein mutations associated with multisystem proteinopathy. Neuromuscul Disord. 2018 06; 28(6):491-501. Al-Tahan S, Al-Obeidi E, Yoshioka H, Lakatos A, Weiss L, Grafe M, Palmio J, Wicklund M, Harati Y, Omizo M, Udd B, Kimonis V. PMID: 29754758.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    75. Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. Clin Genet. 2018 Jan; 93(1):119-125. Al-Obeidi E, Al-Tahan S, Surampalli A, Goyal N, Wang AK, Hermann A, Omizo M, Smith C, Mozaffar T, Kimonis V. PMID: 28692196; PMCID: PMC5739971.
      View in: PubMed   Mentions: 56     Fields:    Translation:Humans
    76. Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study. Am J Med Genet A. 2018 02; 176(2):368-375. Butler MG, Kimonis V, Dykens E, Gold JA, Miller J, Tamura R, Driscoll DJ. PMID: 29271568; PMCID: PMC6065257.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    77. Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion. J Clin Res Pediatr Endocrinol. 2017 12 15; 9(4):380-386. Mahmoud R, Naidu A, Risheg H, Kimonis V. PMID: 28720553; PMCID: PMC5785648.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    78. Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery. PLoS One. 2017; 12(6):e0176919. Llewellyn KJ, Nalbandian A, Weiss LN, Chang I, Yu H, Khatib B, Tan B, Scarfone V, Kimonis VE. PMID: 28575052; PMCID: PMC5456028.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    79. A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester. Clin Dysmorphol. 2017 Apr; 26(2):98-100. Jones M, Chung J, Kimonis V, Gold JA. PMID: 27442045.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    80. Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study. Am J Med Genet A. 2017 May; 173(5):1243-1250. Miller JL, Tamura R, Butler MG, Kimonis V, Sulsona C, Gold JA, Driscoll DJ. PMID: 28371242; PMCID: PMC5828021.
      View in: PubMed   Mentions: 44     Fields:    Translation:Humans
    81. Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations. Am J Med Genet A. 2017 Jun; 173(6):1663-1667. Gilman JL, Newman HA, Freeman R, Singh KE, Puckett RL, Morohashi DK, Stein C, Palomino K, Lebel RR, Kimonis VE. PMID: 28256045.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    82. Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy. Inflammation. 2017 Feb; 40(1):21-41. Nalbandian A, Khan AA, Srivastava R, Llewellyn KJ, Tan B, Shukr N, Fazli Y, Kimonis VE, BenMohamed L. PMID: 27730320; PMCID: PMC5800525.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    83. Dysfunctional oleoylethanolamide signaling in a mouse model of Prader-Willi syndrome. Pharmacol Res. 2017 03; 117:75-81. Igarashi M, Narayanaswami V, Kimonis V, Galassetti PM, Oveisi F, Jung KM, Piomelli D. PMID: 28007570; PMCID: PMC5922435.
      View in: PubMed   Mentions: 10     Fields:    Translation:AnimalsCells
    84. Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3). Cytogenet Genome Res. 2016; 150(1):29-34. Dang V, Surampalli A, Manzardo AM, Youn S, Butler MG, Gold JA, Kimonis VE. PMID: 27894106; PMCID: PMC5812461.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    85. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genet Med. 2017 02; 19(2):160-168. Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. PMID: 27388694; PMCID: PMC7477955.
      View in: PubMed   Mentions: 61     Fields:    Translation:HumansCells
    86. 215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands. Neuromuscul Disord. 2016 08; 26(8):535-47. Evangelista T, Weihl CC, Kimonis V, Lochmüller H, VCP related diseases Consortium. PMID: 27312024; PMCID: PMC5967615.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    87. Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Hum Mutat. 2016 08; 37(8):786-93. Srour M, Caron V, Pearson T, Nielsen SB, Lévesque S, Delrue MA, Becker TA, Hamdan FF, Kibar Z, Sattler SG, Schneider MC, Bitoun P, Chassaing N, Rosenfeld JA, Xia F, Desai S, Roeder E, Kimonis V, Schneider A, Littlejohn RO, Douzgou S, Tremblay A, Michaud JL. PMID: 27120018.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    88. The Myoblast C2C12 Transfected with Mutant Valosin-Containing Protein Exhibits Delayed Stress Granule Resolution on Oxidative Stress. Am J Pathol. 2016 06; 186(6):1623-34. Rodriguez-Ortiz CJ, Flores JC, Valenzuela JA, Rodriguez GJ, Zumkehr J, Tran DN, Kimonis VE, Kitazawa M. PMID: 27106764; PMCID: PMC4901142.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    89. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561. White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB. PMID: 26924530; PMCID: PMC4800044.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansCells
    90. Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment. Clin Pediatr (Phila). 2016 09; 55(10):957-74. Butler MG, Lee J, Cox DM, Manzardo AM, Gold JA, Miller JL, Roof E, Dykens E, Kimonis V, Driscoll DJ. PMID: 26842920; PMCID: PMC5922433.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    91. A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy. PLoS One. 2015; 10(7):e0131995. Llewellyn KJ, Walker N, Nguyen C, Tan B, BenMohamed L, Kimonis VE, Nalbandian A. PMID: 26134519; PMCID: PMC4489713.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    92. Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy. PLoS One. 2015; 10(4):e0122888. Nalbandian A, Llewellyn KJ, Nguyen C, Yazdi PG, Kimonis VE. PMID: 25884947; PMCID: PMC4401571.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansAnimalsCells
    93. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. BMC Med Genet. 2015 Mar 14; 16:12. El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW. PMID: 25927380; PMCID: PMC4422130.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    94. Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia. J Genet Couns. 2015 Oct; 24(5):842-50. Surampalli A, Khare M, Kubrussi G, Wencel M, Tanaja J, Donkervoort S, Osann K, Simon M, Wallace D, Smith C, M McInerney-Leo A, Kimonis V. PMID: 25716352; PMCID: PMC5565393.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    95. In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics. Mitochondrion. 2015 May; 22:1-8. Nalbandian A, Llewellyn KJ, Gomez A, Walker N, Su H, Dunnigan A, Chwa M, Vesa J, Kenney MC, Kimonis VE. PMID: 25724235; PMCID: PMC7105354.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    96. Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome. Neurobiol Dis. 2015 Apr; 76:77-86. Llewellyn KJ, Nalbandian A, Gomez A, Wei D, Walker N, Kimonis VE. PMID: 25684537.
      View in: PubMed   Mentions: 17     Fields:    Translation:AnimalsCells
    97. Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease. Hum Gene Ther Methods. 2015 Feb; 26(1):13-24. Nalbandian A, Llewellyn KJ, Nguyen C, Monuki ES, Kimonis VE. PMID: 25545721; PMCID: PMC4337464.
      View in: PubMed   Mentions: 6     Fields:    Translation:Animals
    98. Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE ε4/APOE ε4 genotype. Alzheimer Dis Assoc Disord. 2015 Jan-Mar; 29(1):90-3. Shamirian S, Nalbandian A, Khare M, Castellani R, Kim R, Kimonis VE. PMID: 23715207.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    99. Growth charts for non-growth hormone treated Prader-Willi syndrome. Pediatrics. 2015 Jan; 135(1):e126-35. Butler MG, Lee J, Manzardo AM, Gold JA, Miller JL, Kimonis V, Driscoll DJ. PMID: 25489013; PMCID: PMC4279067.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    100. Global gene expression profiling in R155H knock-in murine model of VCP disease. Clin Transl Sci. 2015 Feb; 8(1):8-16. Nalbandian A, Ghimbovschi S, Wang Z, Knoblach S, Llewellyn KJ, Vesa J, Hoffman EP, Kimonis VE. PMID: 25388089; PMCID: PMC4329058.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    101. A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation. Neuromuscul Disord. 2015 Feb; 25(2):177-83. Surampalli A, Gold BT, Smith C, Castellani RJ, Khare M, Yu H, Nguyen C, Lan M, Wencel M, Wigal S, Caiozzo V, Kimonis V. PMID: 25582679; PMCID: PMC5591024.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    102. Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome. J Pediatr Endocrinol Metab. 2014 May; 27(5-6):511-8. Khare M, Gold JA, Wencel M, Billimek J, Surampalli A, Duarte B, Pontello A, Galassetti P, Cassidy S, Kimonis VE. PMID: 24515997.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    103. Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2. Am J Med Genet A. 2014 Jul; 164A(7):1761-4. Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis VE. PMID: 24677774.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    104. Dysmorphology of inborn errors of metabolism. Mol Cytogenet. 2014; 7(Suppl 1 Proceedings of the International Conference on Human):I39. Kimonis V. PMID: 24940374; PMCID: PMC4043204.
      View in: PubMed   Mentions:
    105. Clinical utility and dilemmas of SNP microarray testing. Mol Cytogenet. 2014; 7(Suppl 1 Proceedings of the International Conference on Human):I34. Kimonis V. PMID: 24955121; PMCID: PMC4045131.
      View in: PubMed   Mentions:
    106. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014 Mar; 51(3):185-96. Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T. PMID: 24431331; PMCID: PMC4278941.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansCells
    107. The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. Circ Cardiovasc Genet. 2013 Dec; 6(6):615-23. Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H. PMID: 24200904.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansAnimalsCells
    108. Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease. Hum Mol Genet. 2014 Mar 01; 23(5):1333-44. Llewellyn KJ, Nalbandian A, Jung KM, Nguyen C, Avanesian A, Mozaffar T, Piomelli D, Kimonis VE. PMID: 24158850; PMCID: PMC3919004.
      View in: PubMed   Mentions: 14     Fields:    Translation:AnimalsCells
    109. Exercise training reverses skeletal muscle atrophy in an experimental model of VCP disease. PLoS One. 2013; 8(10):e76187. Nalbandian A, Nguyen C, Katheria V, Llewellyn KJ, Badadani M, Caiozzo V, Kimonis VE. PMID: 24130765; PMCID: PMC3794032.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    110. Cytokine profiling in patients with VCP-associated disease. Clin Transl Sci. 2014 Feb; 7(1):29-32. Dec E, Rana P, Katheria V, Dec R, Khare M, Nalbandian A, Leu SY, Radom-Aizik S, Llewellyn K, BenMohamed L, Zaldivar F, Kimonis V. PMID: 24119107; PMCID: PMC4057603.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    111. Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis. Genet Med. 2014 Apr; 16(4):302-10. Greenwood J, Flodman P, Osann K, Boyadjiev SA, Kimonis V. PMID: 24071792; PMCID: PMC4143991.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    112. Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. Genet Med. 2014 Feb; 16(2):164-9. Gold JA, Ruth C, Osann K, Flodman P, McManus B, Lee HS, Donkervoort S, Khare M, Roof E, Dykens E, Miller JL, Driscoll DJ, Butler MG, Heinemann J, Cassidy S, Kimonis VE. PMID: 23928912; PMCID: PMC4164429.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    113. Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome. Clin Transl Sci. 2013 Oct; 6(5):347-55. Yazdi PG, Su H, Ghimbovschi S, Fan W, Coskun PE, Nalbandian A, Knoblach S, Resnick JL, Hoffman E, Wallace DC, Kimonis VE. PMID: 24127921; PMCID: PMC3815468.
      View in: PubMed   Mentions: 14     Fields:    Translation:AnimalsCells
    114. A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. JIMD Rep. 2013; 11:99-106. Fan Y, Steller J, Gonzalez IL, Kulik W, Fox M, Chang R, Westerfield BA, Batra AS, Wang RY, Gallant NM, Pena LS, Wang H, Huang T, Bhuta S, Penny DJ, McCabe ER, Kimonis VE. PMID: 23606313; PMCID: PMC3755548.
      View in: PubMed   Mentions: 3  
    115. Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1). Neuropediatrics. 2014 Feb; 45(1):56-60. Steller J, Gargus JJ, Gibbs LH, Hasso AN, Kimonis VE. PMID: 23572181.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    116. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013 Mar 28; 495(7442):467-73. Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP. PMID: 23455423; PMCID: PMC3756911.
      View in: PubMed   Mentions: 757     Fields:    Translation:HumansAnimalsCells
    117. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A. 2013 Jan; 161A(1):131-6. Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. PMID: 23225497; PMCID: PMC3733662.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    118. A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse. Muscle Nerve. 2013 Feb; 47(2):260-70. Nalbandian A, Llewellyn KJ, Badadani M, Yin HZ, Nguyen C, Katheria V, Watts G, Mukherjee J, Vesa J, Caiozzo V, Mozaffar T, Weiss JH, Kimonis VE. PMID: 23169451; PMCID: PMC3556223.
      View in: PubMed   Mentions: 35     Fields:    Translation:AnimalsCells
    119. Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A. 2012 Dec; 158A(12):3087-100. Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF. PMID: 23165726; PMCID: PMC3507421.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    120. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet. 2012 Dec; 44(12):1360-4. Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. PMID: 23160099; PMCID: PMC3736322.
      View in: PubMed   Mentions: 61     Fields:    Translation:Humans
    121. Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia. Br J Dermatol. 2013 Mar; 168(3):665-7. Rodgers W, Ancliff P, Ponting CP, Sanchez-Pulido L, Burns S, Hayman M, Kimonis V, Sebire N, Bulstrode N, Harper JI. PMID: 22924337.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    122. Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia. Clin Genet. 2013 May; 83(5):422-31. Mehta SG, Khare M, Ramani R, Watts GD, Simon M, Osann KE, Donkervoort S, Dec E, Nalbandian A, Platt J, Pasquali M, Wang A, Mozaffar T, Smith CD, Kimonis VE. PMID: 22909335; PMCID: PMC3618576.
      View in: PubMed   Mentions: 53     Fields:    Translation:Humans
    123. The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology. PLoS One. 2012; 7(9):e46308. Nalbandian A, Llewellyn KJ, Kitazawa M, Yin HZ, Badadani M, Khanlou N, Edwards R, Nguyen C, Mukherjee J, Mozaffar T, Watts G, Weiss J, Kimonis VE. PMID: 23029473; PMCID: PMC3460820.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansAnimalsCells
    124. Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome. Genet Med. 2013 Jan; 15(1):79-83. Kimonis VE, Singh KE, Zhong R, Pastakia B, Digiovanna JJ, Bale SJ. PMID: 22918513.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    125. Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice. Cell Death Dis. 2012 Aug 16; 3:e374. Yin HZ, Nalbandian A, Hsu CI, Li S, Llewellyn KJ, Mozaffar T, Kimonis VE, Weiss JH. PMID: 22898872; PMCID: PMC3434652.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansAnimalsCells
    126. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat. 2012 Dec; 33(12):1626-9. Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA. PMID: 22829454; PMCID: PMC3495992.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    127. Mild fumarase deficiency and a trial of low protein diet. Mol Genet Metab. 2012 Sep; 107(1-2):241-2. Kimonis VE, Steller J, Sahai I, Grange DK, Shoemaker J, Zelaya BM, Mandell R, Shih K, Shih V. PMID: 22595425.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    128. Global gene profiling of VCP-associated inclusion body myopathy. Clin Transl Sci. 2012 Jun; 5(3):226-34. Nalbandian A, Ghimbovschi S, Radom-Aizik S, Dec E, Vesa J, Martin B, Knoblach S, Smith C, Hoffman E, Kimonis VE. PMID: 22686199; PMCID: PMC3375869.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    129. Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts. Am J Hum Genet. 2012 Apr 06; 90(4):614-27. Camacho-Vanegas O, Camacho SC, Till J, Miranda-Lorenzo I, Terzo E, Ramirez MC, Schramm V, Cordovano G, Watts G, Mehta S, Kimonis V, Hoch B, Philibert KD, Raabe CA, Bishop DF, Glucksman MJ, Martignetti JA. PMID: 22464254; PMCID: PMC3322221.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimalsCells
    130. Genetics of hearing loss: where are we standing now? Eur Arch Otorhinolaryngol. 2012 Jul; 269(7):1733-45. Mahboubi H, Dwabe S, Fradkin M, Kimonis V, Djalilian HR. PMID: 22218850.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansPHPublic Health
    131. Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome. Genet Test Mol Biomarkers. 2012 Mar; 16(3):178-86. Henkhaus RS, Kim SJ, Kimonis VE, Gold JA, Dykens EM, Driscoll DJ, Butler MG. PMID: 21977908; PMCID: PMC3306590.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    132. The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis. J Mol Neurosci. 2011 Nov; 45(3):522-31. Nalbandian A, Donkervoort S, Dec E, Badadani M, Katheria V, Rana P, Nguyen C, Mukherjee J, Caiozzo V, Martin B, Watts GD, Vesa J, Smith C, Kimonis VE. PMID: 21892620.
      View in: PubMed   Mentions: 75     Fields:    Translation:HumansAnimals
    133. Valosin-containing protein mutation and Parkinson's disease. Parkinsonism Relat Disord. 2012 Jan; 18(1):107-9. Chan N, Le C, Shieh P, Mozaffar T, Khare M, Bronstein J, Kimonis V. PMID: 21816654.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    134. Radiological features of Paget disease of bone associated with VCP myopathy. Skeletal Radiol. 2012 Mar; 41(3):329-37. Farpour F, Tehranzadeh J, Donkervoort S, Smith C, Martin B, Vanjara P, Osann K, Kimonis VE. PMID: 21643886.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    135. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011 May; 155A(5):1040-9. Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, Dykens E, Butler MG, Shuster JJ, Driscoll DJ. PMID: 21465655; PMCID: PMC3285445.
      View in: PubMed   Mentions: 169     Fields:    Translation:Humans
    136. An additional patient with mycophenolate mofetil embryopathy: cardiac and facial analyses. Am J Med Genet A. 2011 Apr; 155A(4):748-56. Lin AE, Singh KE, Strauss A, Nguyen S, Rawson K, Kimonis VE. PMID: 21594997.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    137. Growth standards of infants with Prader-Willi syndrome. Pediatrics. 2011 Apr; 127(4):687-95. Butler MG, Sturich J, Lee J, Myers SE, Whitman BY, Gold JA, Kimonis V, Scheimann A, Terrazas N, Driscoll DJ. PMID: 21402637; PMCID: PMC3065075.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    138. A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Braz J Med Biol Res. 2011 Apr; 44(4):374-80. Fanganiello RD, Kimonis VE, Côrte CC, Nitrini R, Passos-Bueno MR. PMID: 21412659.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    139. Mutation in PQBP1 is associated with periventricular heterotopia. Am J Med Genet A. 2010 Nov; 152A(11):2888-90. Sheen VL, Torres AR, Du X, Barry B, Walsh CA, Kimonis VE. PMID: 20886605; PMCID: PMC3548238.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    140. VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One. 2010 Oct 05; 5(10). Badadani M, Nalbandian A, Watts GD, Vesa J, Kitazawa M, Su H, Tanaja J, Dec E, Wallace DC, Mukherjee J, Caiozzo V, Warman M, Kimonis VE. PMID: 20957154; PMCID: PMC2950155.
      View in: PubMed   Mentions: 66     Fields:    Translation:Animals
    141. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct; 31(10):1142-54. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. PMID: 20672375; PMCID: PMC2947617.
      View in: PubMed   Mentions: 50     Fields:    Translation:Humans
    142. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001. Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA. PMID: 20635355; PMCID: PMC3172130.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    143. VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy. 2010 Feb; 6(2):217-27. Tresse E, Salomons FA, Vesa J, Bott LC, Kimonis V, Yao TP, Dantuma NP, Taylor JP. PMID: 20104022; PMCID: PMC2929010.
      View in: PubMed   Mentions: 247     Fields:    Translation:HumansAnimalsCells
    144. Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. Neuromuscul Disord. 2009 Nov; 19(11):766-72. Vesa J, Su H, Watts GD, Krause S, Walter MC, Martin B, Smith C, Wallace DC, Kimonis VE. PMID: 19828315; PMCID: PMC2782446.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansCells
    145. Is gestation in Prader-Willi syndrome affected by the genetic subtype? J Assist Reprod Genet. 2009 Aug; 26(8):461-6. Butler MG, Sturich J, Myers SE, Gold JA, Kimonis V, Driscoll DJ. PMID: 19760168; PMCID: PMC2767487.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    146. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet. 2009 Jul; 5(7):e1000559. Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K. PMID: 19593370; PMCID: PMC2700282.
      View in: PubMed   Mentions: 166     Fields:    Translation:HumansAnimalsCells
    147. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neurosci Lett. 2011 Jan 07; 487(2):129-33. Su H, Fan W, Coskun PE, Vesa J, Gold JA, Jiang YH, Potluri P, Procaccio V, Acab A, Weiss JH, Wallace DC, Kimonis VE. PMID: 19563863; PMCID: PMC2888840.
      View in: PubMed   Mentions: 35     Fields:    Translation:AnimalsCells
    148. NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. Am J Med Genet A. 2009 May; 149A(5):931-8. Brown KK, Alkuraya FS, Matos M, Robertson RL, Kimonis VE, Morton CC. PMID: 19353646; PMCID: PMC2777524.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    149. Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia. Neuromuscul Disord. 2009 May; 19(5):308-15. Weihl CC, Pestronk A, Kimonis VE. PMID: 19380227; PMCID: PMC2859037.
      View in: PubMed   Mentions: 101     Fields:    Translation:HumansCells
    150. Humoral immune deficiency and hemifacial microsomia seen in one family. Cleft Palate Craniofac J. 2009 Sep; 46(5):477-80. Mikhak Z, Mulliken JB, Lee J, Bonilla FA, Kimonis VE. PMID: 19929099.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    151. Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov; 29(11):E205-19. Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. PMID: 18642388.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    152. TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. J Neurol Neurosurg Psychiatry. 2008 Oct; 79(10):1186-9. Weihl CC, Temiz P, Miller SE, Watts G, Smith C, Forman M, Hanson PI, Kimonis V, Pestronk A. PMID: 18796596; PMCID: PMC2586594.
      View in: PubMed   Mentions: 125     Fields:    Translation:HumansCells
    153. VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder. Biochim Biophys Acta. 2008 Dec; 1782(12):744-8. Kimonis VE, Fulchiero E, Vesa J, Watts G. PMID: 18845250.
      View in: PubMed   Mentions: 116     Fields:    Translation:Humans
    154. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A. 2008 Mar 15; 146A(6):745-57. Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD. PMID: 18260132; PMCID: PMC2467391.
      View in: PubMed   Mentions: 75     Fields:    Translation:HumansCells
    155. Subglossopalatal synechia in association with cardiac and digital anomalies. Cleft Palate Craniofac J. 2008 Mar; 45(2):217-21. Oh AK, Thakuria J, Kimonis V, Mulliken JB. PMID: 18333647.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    156. Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A. 2007 Dec 15; 143A(24):3204-15. Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Jehee FS, Bueno MR, Knightly C, McDonald-McGinn D, Zackai EH, Muenke M. PMID: 18000976.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    157. Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? Am J Med Genet A. 2007 Dec 15; 143A(24):2973-80. Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, Robson CD, Kimonis VE. PMID: 18000896.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    158. Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Am J Med Genet A. 2007 Nov 01; 143A(21):2523-33. Baris HN, Tan WH, Kimonis VE, Irons MB. PMID: 17910064.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    159. Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. Clin Genet. 2007 Nov; 72(5):420-6. Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE. PMID: 17935506.
      View in: PubMed   Mentions: 52     Fields:    Translation:Humans
    160. Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis. Muscle Nerve. 2007 Oct; 36(4):447-54. Greenberg SA, Watts GD, Kimonis VE, Amato AA, Pinkus JL. PMID: 17626287.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    161. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007 Sep; 14(3):150-61. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. PMID: 17980312.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    162. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet. 2007 Sep; 15(9):943-9. Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. PMID: 17522620.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansCells
    163. What syndrome is this? Laryngo-onycho-cutaneous syndrome. Pediatr Dermatol. 2007 May-Jun; 24(3):306-8. Kim CC, Liang MG, Pfendner E, Kimonis VE. PMID: 17542886.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    164. TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol. 2007 Feb; 66(2):152-7. Neumann M, Mackenzie IR, Cairns NJ, Boyer PJ, Markesbery WR, Smith CD, Taylor JP, Kretzschmar HA, Kimonis VE, Forman MS. PMID: 17279000.
      View in: PubMed   Mentions: 148     Fields:    Translation:HumansCells
    165. APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD). Genet Med. 2007 Jan; 9(1):9-13. Mehta SG, Watts GD, Adamson JL, Hutton M, Umberger G, Xiong S, Ramdeen S, Lovell MA, Kimonis VE, Smith CD. PMID: 17224685.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    166. Immunoglobulin deficiency in Stickler syndrome. Am J Med Genet A. 2006 Dec 15; 140(24):2824-7. Mikhak Z, Kelly P, Cohen TS, Cox JE, Kimonis VE. PMID: 17103448.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    167. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Nov 15; 140(22):2416-25. Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. PMID: 17036343.
      View in: PubMed   Mentions: 50     Fields:    Translation:HumansCells
    168. Atypical cases of Angelman syndrome. Am J Med Genet A. 2006 Nov 01; 140(21):2361-4. Lawson-Yuen A, Wu BL, Lip V, Sahoo T, Kimonis V. PMID: 17036311.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    169. Apert syndrome: what prenatal radiographic findings should prompt its consideration? Prenat Diagn. 2006 Oct; 26(10):966-72. Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson C, Mulliken JB, Kimonis VE. PMID: 16906598.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    170. Pathological consequences of VCP mutations on human striated muscle. Brain. 2007 Feb; 130(Pt 2):381-93. Hübbers CU, Clemen CS, Kesper K, Böddrich A, Hofmann A, Kämäräinen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BG, Noegel AA, Schröder R. PMID: 16984901.
      View in: PubMed   Mentions: 67     Fields:    Translation:HumansCells
    171. Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A. 2006 Sep 01; 140A(17):1876-9. Baris H, Bejjani BA, Tan WH, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis VE. PMID: 16892302.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    172. Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome. Am J Med Genet A. 2006 Jun 15; 140(12):1337-8. Quintero-Rivera F, Robson CD, Reiss RE, Levine D, Benson CB, Mulliken JB, Kimonis VE. PMID: 16691624.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    173. Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations. J Neuropathol Exp Neurol. 2006 Jun; 65(6):571-81. Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ, Drachman DA, Jhaveri BS, Karlawish JH, Pestronk A, Smith TW, Tu PH, Watts GD, Markesbery WR, Smith CD, Kimonis VE. PMID: 16783167.
      View in: PubMed   Mentions: 96     Fields:    Translation:Humans
    174. Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion. Ophthalmic Genet. 2006 Jun; 27(2):63-5. Neilan E, Pikman Y, Kimonis VE. PMID: 16754208.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    175. Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain. 2006 Sep; 129(Pt 9):2318-31. Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB, Dagvadorj A, Ji J, Zhang Y, Kimonis VE, Hardy J, Hallett M, Goldfarb LG. PMID: 16702189.
      View in: PubMed   Mentions: 58     Fields:    Translation:HumansCells
    176. Duplication of 5q15-q23.2: case report and literature review. Birth Defects Res A Clin Mol Teratol. 2006 Apr; 76(4):272-6. Douyard J, Hawley P, Shaham M, Kimonis V. PMID: 16602097.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    177. Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing? Prenat Diagn. 2006 Mar; 26(3):291-3. Alkuraya FS, Martin CL, Kimonis VE. PMID: 16506278.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    178. Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy. Am J Med Genet A. 2006 Feb 15; 140(4):322-30. Mehta SG, Watts GD, McGillivray B, Mumm S, Hamilton SJ, Ramdeen S, Novack D, Briggs C, Whyte MP, Kimonis VE. PMID: 16419137.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    179. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. Am J Med Genet A. 2006 Jan 01; 140(1):17-23. Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR. PMID: 16333846; PMCID: PMC2891730.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    180. Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene. Genet Med. 2006 Jan; 8(1):59. Huang T, Whang JD, Kimonis V. PMID: 16418602.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    181. Progressive cavitating leukoencephalopathy: a novel childhood disease. Ann Neurol. 2005 Dec; 58(6):929-38. Naidu S, Bibat G, Lin D, Burger P, Barker P, Rosemberg S, Braverman N, Arroyo H, Dowling M, Hamosh A, Kimonis V, Blank C, Fiumara A, Facchini S, Singhal B, Moser H, Kelley R, DiMauro S. PMID: 16315274.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    182. Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome. Hum Genet. 2005 Dec; 118(3-4):508-14. Watts GD, Mehta SG, Zhao C, Ramdeen S, Hamilton SJ, Novack DV, Mumm S, Whyte MP, Mc Gillivray B, Kimonis VE. PMID: 16244874.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    183. Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. J Child Neurol. 2005 Oct; 20(10):826-8. Sahai I, Baris H, Kimonis V, Levy HL. PMID: 16417879.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    184. Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Alzheimer Dis Assoc Disord. 2005 Oct-Dec; 19 Suppl 1:S44-7. Kimonis VE, Watts GD. PMID: 16317258.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCells
    185. Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone. Bone. 2006 Feb; 38(2):280-5. Lucas GJ, Mehta SG, Hocking LJ, Stewart TL, Cundy T, Nicholson GC, Walsh JP, Fraser WD, Watts GD, Ralston SH, Kimonis VE. PMID: 16199218.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    186. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):569-71. Alkuraya FS, Picker J, Irons MB, Kimonis VE. PMID: 15965973.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    187. Cockayne syndrome: the developing phenotype. Am J Med Genet A. 2005 Jun 01; 135(2):214-6. Tan WH, Baris H, Robson CD, Kimonis VE. PMID: 15887300.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    188. Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. Am J Med Genet A. 2005 Apr 15; 134A(2):220-2. Baris H, Tan WH, Kimonis VE. PMID: 15712197.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    189. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat. 2005 Mar; 25(3):285-92. Caciotti A, Donati MA, Boneh A, d'Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. PMID: 15714521.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    190. Mutant valosin-containing protein causes a novel type of frontotemporal dementia. Ann Neurol. 2005 Mar; 57(3):457-61. Schröder R, Watts GD, Mehta SG, Evert BO, Broich P, Fliessbach K, Pauls K, Hans VH, Kimonis V, Thal DR. PMID: 15732117.
      View in: PubMed   Mentions: 62     Fields:    Translation:Humans
    191. A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome". Am J Med Genet A. 2005 Feb 01; 132A(4):447-9. Alkuraya FS, Kimonis VE, Holt L, Murata-Collins JL. PMID: 15580637.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    192. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A. 2005 Jan 15; 132A(2):226-30. Alkuraya FS, Lin AE, Irons MB, Kimonis VE. PMID: 15580636.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    193. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med. 2004 Nov-Dec; 6(6):495-502. Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. PMID: 15545745.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    194. Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am J Med Genet A. 2004 Oct 01; 130A(2):204-7. Roberts AE, Irons MB, Kimonis VE, Mulliken JB, Morton CC, Lee C, Listewnik M. PMID: 15372522.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    195. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A. 2004 Aug 01; 128A(4):352-63. Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. PMID: 15264280.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    196. A further case of coincidental Prader-Willi and Klinefelter syndromes. Am J Med Genet A. 2004 Apr 15; 126A(2):213-4. Schneider M, Forrester S, Crain V, Kimonis V. PMID: 15057989.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    197. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet. 2004 Apr; 36(4):377-81. Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE. PMID: 15034582.
      View in: PubMed   Mentions: 600     Fields:    Translation:HumansCells
    198. Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes. Neuromuscul Disord. 2003 Sep; 13(7-8):559-67. Watts GD, Thorne M, Kovach MJ, Pestronk A, Kimonis VE. PMID: 12921793.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    199. Temtamy-like syndrome associated with translocation of 2p24 and 9q32. Clin Dysmorphol. 2003 Jul; 12(3):175-7. Talisetti A, Forrester SR, Gregory D, Johnson L, Schneider MC, Kimonis VE. PMID: 14564155.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    200. Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. Eur J Hum Genet. 2003 Jul; 11(7):527-34. Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. PMID: 12825074.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    201. Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature. Am J Med Genet. 2002 Apr 01; 108(4):295-303. Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE. PMID: 11920834.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    202. Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. Am J Med Genet. 2002 Mar 15; 108(3):187-91. Waggoner B, Kovach MJ, Winkelman M, Cai D, Khardori R, Gelber D, Kimonis VE. PMID: 11891683.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    203. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab. 2001 Dec; 74(4):458-75. Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE. PMID: 11749051; PMCID: PMC6277059.
      View in: PubMed   Mentions: 68     Fields:    
    204. Increased fertility in a woman with classic galactosaemia. J Inherit Metab Dis. 2001 Oct; 24(5):607-8. Kimonis V. PMID: 11757592.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    205. Chest wall hamartoma with Wiedemann-Beckwith syndrome: clinical report and brief review of chromosome 11p15.5-related tumors. Am J Med Genet. 2001 Jul 01; 101(3):221-5. Jonas RE, Kimonis VE. PMID: 11424137.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    206. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. Am J Med Genet. 2001 Jan 01; 98(1):92-100. Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V. PMID: 11426460.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    207. Mild phenotype due to tandem duplication of l7p11.2. Am J Med Genet. 2000 Oct 02; 94(4):296-9. Schneider MC, Hughes CR, Forrester S, Kimonis V. PMID: 11038442.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    208. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med. 2000 Jul-Aug; 2(4):232-41. Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khardori R, Gelber D. PMID: 11252708; PMCID: PMC6173187.
      View in: PubMed   Mentions: 59     Fields:    Translation:Humans
    209. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet. 2000 Jan; 24(1):84-7. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. PMID: 10615134.
      View in: PubMed   Mentions: 120     Fields:    Translation:HumansCells
    210. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet. 1999 Jun; 64(6):1580-93. Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE. PMID: 10330345; PMCID: PMC1377901.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    211. Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies. Am J Med Genet. 1997 Dec 12; 73(2):184-8. Jonas RE, Kimonis VE, Morales A. PMID: 9409870.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    212. Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 1997 May; 6(5):669-74. Pulkkinen L, Kimonis VE, Xu Y, Spanou EN, McLean WH, Uitto J. PMID: 9158140.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    213. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. 1997 Mar 31; 69(3):299-308. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ. PMID: 9096761.
      View in: PubMed   Mentions: 214     Fields:    Translation:HumansCells
    214. Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. J Clin Endocrinol Metab. 1995 Nov; 80(11):3257-61. Kimonis VE, Troendle J, Rose SR, Yang ML, Markello TC, Gahl WA. PMID: 7593434.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansCTClinical Trials
    215. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J Invest Dermatol. 1994 Dec; 103(6):764-9. Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG. PMID: 7528239.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
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