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Systems genetics approaches model the heritable architecture of polyendocrine metabolic ovarian syndrome. J Clin Invest. 2026 Aug 06.
Nguyen CM, Velez LM, Cheon Y, Jackson CL, Johnson CD, Tamburini I, Zhou M, Alvstad E, Yoon I, Dustagheer F, Li M, Gujjarlapudi T, Ofilan K, Mishra N, Williams EG, Kwan D, Viesi CH, Ujagar N, Ashbrook DG, Senior A, Nelson ME, Pannunzio NR, Masri S, Kvon E, MacGregor G, Jang C, Sebastiano V, Byun M, Xiao C, Kauffman AS, Williams RW, James DE, Marazzi I, Nicholas D, Seldin M. PMID: 42560775.
View in:
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Variant-specific RNA testing resolves variants of uncertain significance in exome testing. BMC Genomics. 2026 Jul 01.
O'Neill AK, VanNoy GE, Gasser B, Gage J, Grzybowski J, Horton C, Holman M, Watson C, Ichikawa S, Xiao C, Mittag D, Ferren EC, Levine E, Barbosa M, Biddle J, Sadler L, Samons M, Zimmermann H, Richardson ME. PMID: 42380775.
View in:
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Applying natural language processing and large language models to clinical notes for phenotyping and diagnosing rare diseases: a systematic review. J Am Med Inform Assoc. 2026 Jun 01; 33(6):1225-1235.
Kim S, Zhou Y, Guo Y, Xiao C, Zheng K. PMID: 41990239; PMCID: PMC13197187.
View in:
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Humans
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Defining Features of Gabriele-de Vries Syndrome in Adults: A Case Report and Literature Review. Am J Med Genet A. 2026 May 04.
Hollingsworth EW, Xiao C. PMID: 42083052.
View in:
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MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred. Cerebellum. 2026 Apr 25; 25(3).
Xiao C, Zhu D, Pryor J, Frutiger SA, Clark HB, Casey HL, Bower M, Yu GY, Du X, Toro C, Gomez CM. PMID: 42033631; PMCID: PMC13110232.
View in:
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Humans
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Identification of de novo variants from parent-proband duos via long-read sequencing. Am J Hum Genet. 2026 Mar 05; 113(3):437-452.
Boukas L, Délot EC, Pitsava G, Lambert C, Fanslow C, Baybayan P, Belhadj S, Losic B, Harting J, Bluske K, LoTempio J, Al-Kouatly HB, Karam R, Rowell WJ, Xiao C, Vilain E, Berger SI. PMID: 41795468; PMCID: PMC12987547.
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Humans
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Kauro, a graph-based chatbot for high-fidelity information transmission conversations. medRxiv. 2026 Feb 02.
King CH, Barrick R, Almalvez M, Blanco K, De Dios I, Fusaro VA, Délot E, Donohue C, Berger S, Xiao C, UCI GREGoR Site, Vilain E, LoTempio J. PMID: 41674589; PMCID: PMC12889763.
View in:
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Response to Spurdle et al. Genet Med. 2026 Jan; 28(1):101637.
Berger SI, Pitsava G, Xiao C, Délot EC, Vilain E. PMID: 41511481.
View in:
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A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases. Mol Genet Genomic Med. 2025 Dec; 13(12):e70172.
Dutta R, Duong C, Kimonis V, Xiao C. PMID: 41431246; PMCID: PMC12723074.
View in:
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1 Fields:
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Humans
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Genome sequencing reveals the impact of pseudoexons in rare genetic disease. Genet Med. 2025 Nov; 27(11):101574.
Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Ah Mew N, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM, UCI-GREGoR Consortium, Xiao C, Délot EC, Berger SI, Vilain E. PMID: 40927908; PMCID: PMC12501780.
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Humans
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Selumetinib in Adult Neurofibromatosis 1 with Plexiform Neurofibroma. Pharmaceuticals (Basel). 2025 Jul 13; 18(7).
Yuen CA, Chu E, O'Connell R, Sun BK, Vyas R, Zheng M, Elliott E, Xiao C. PMID: 40732327; PMCID: PMC12298819.
View in:
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Genome sequencing reveals the impact of pseudoexons in rare genetic disease. medRxiv. 2025 Jun 18.
Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Mew NA, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, Bujakowska KM, UCI-GREGoR Consortium, Xiao C, Délot EC, Berger SI, Vilain E. PMID: 39763557; PMCID: PMC11703292.
View in:
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The importance of residual newborn screening dried blood spots, 2025 revision: A position statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025 Aug; 27(8):101433.
Rose NC, Caggana M, Dinulos MB, Francis L, Lloyd-Puryear MA, Matthews A, McClure ML, Powell CM, Xiao C, ACMG Advocacy and Government Affairs Committee. Electronic address: documents@acmg.net. PMID: 40498434.
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Identification of de novo variants from parent-proband duos via long-read sequencing. medRxiv. 2025 Feb 26.
Boukas L, Délot EC, Pitsava G, Lambert C, Fanslow C, Baybayan P, Belhadj S, Losic B, Harting J, Bluske K, LoTempio J, Al-Kouatly H, Karam R, Rowell W, Xiao C, Vilain E, Berger SI. PMID: 40061346; PMCID: PMC11888490.
View in:
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Cutaneous manifestations in D-2-hydroxyglutaric aciduria type 2 and response to enasidenib therapy. JAAD Case Rep. 2025 Feb; 56:11-13.
Roux J, Brody G, Metz B, Gao J, Xiao C, Chang RC. PMID: 39839460; PMCID: PMC11750430.
View in:
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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Undiagnosed Diseases Network, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. PMID: 39181022.
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1 Fields:
Translation:
Humans
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Undiagnosed Diseases Network, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. PMID: 39036895; PMCID: PMC11648989.
View in:
PubMed Mentions:
3 Fields:
Translation:
HumansAnimals
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 08; 632(8026):832-840.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin N. PMID: 38991538; PMCID: PMC11338827.
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54 Fields:
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HumansCells
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. Genet Med. 2024 10; 26(10):101199.
Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, Bamshad MJ, Rehm HL. PMID: 38944749; PMCID: PMC11456385.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. bioRxiv. 2024 Jun 21.
Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, Bamshad MJ, Rehm HL. PMID: 38370830; PMCID: PMC10871197.
View in:
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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. Genet Med. 2024 09; 26(9):101166.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM, Undiagnosed Diseases Network, Worthey EA, Ashley EA, Montgomery SB, Fisher PG, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. PMID: 38767059; PMCID: PMC11451386.
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PubMed Mentions:
7 Fields:
Translation:
HumansAnimalsCells
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv. 2024 Apr 09.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N. PMID: 38645094; PMCID: PMC11030480.
View in:
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1
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Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Genet Med. 2024 06; 26(6):101115.
Pucel J, Briere LC, Reuter C, Gochyyev P, Undiagnosed Diseases Network, LeBlanc K. PMID: 38436216; PMCID: PMC11161308.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Genomic Diagnoses for Ectopic Intracerebral Calcifications. Neurol Genet. 2023 Oct; 9(5):e200083.
Xiao C, Cassini T, Benavides D, Ebrahim A, Adams D, Toro C. PMID: 37547187; PMCID: PMC10399077.
View in:
PubMed Mentions:
1
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Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1. Genet Med. 2023 03; 25(3):100349.
Agrawal N, Farhat NY, Sinaii N, Do AD, Xiao C, Berry-Kravis E, Bianconi S, Masvekar R, Bielekova B, Solomon B, Porter FD. PMID: 36470574; PMCID: PMC9992339.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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Adults with lysosomal storage diseases in the undiagnosed diseases network. Mol Genet Genomic Med. 2022 09; 10(9):e2013.
Xiao C, Koziura M, Cope H, Spillman R, Tan K, Hisama FM, Tifft CJ, Toro C. PMID: 35848209; PMCID: PMC9482386.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1. Neurol Genet. 2021 Aug; 7(4):e606.
Xiao C, Markello T, Zein WM, Bishop R, Groden C, Gahl W, Toro C. PMID: 34277935; PMCID: PMC8284080.
View in:
PubMed Mentions:
1
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Inherited disorders of complex lipid metabolism: A clinical review. J Inherit Metab Dis. 2021 07; 44(4):809-825.
Xiao C, Rossignol F, Vaz FM, Ferreira CR. PMID: 33594685.
View in:
PubMed Mentions:
13 Fields:
Translation:
HumansCells
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Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. Am J Med Genet A. 2020 10; 182(10):2426-2431.
Xiao C, Astiazaran-Symonds E, Basu S, Kisling M, Scaglia F, Chapman KA, Wang Y, Vockley J, Ferreira CR. PMID: 32804429; PMCID: PMC8543298.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation. Neurol Genet. 2019 10; 5(5):e357.
Xiao C, Binkley EM, Rexach J, Knight-Johnson A, Khemani P, Fogel BL, Das S, Stone EM, Gomez CM. PMID: 31750392; PMCID: PMC6812731.
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PubMed Mentions:
21
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Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia. Neuron. 2016 Dec 21; 92(6):1238-1251.
Rittiner JE, Caffall ZF, Hernández-Martinez R, Sanderson SM, Pearson JL, Tsukayama KK, Liu AY, Xiao C, Tracy S, Shipman MK, Hickey P, Johnson J, Scott B, Stacy M, Saunders-Pullman R, Bressman S, Simonyan K, Sharma N, Ozelius LJ, Cirulli ET, Calakos N. PMID: 27939583; PMCID: PMC5320521.
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PubMed Mentions:
49 Fields:
Translation:
HumansAnimalsCells