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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet. 2015 Mar 05; 96(3):462-73.
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ. PMID: 25683120; PMCID: PMC4375444.
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75 Fields:
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Impact of Cell-Free Fetal DNA Screening on Patients' Choice of Invasive Procedures after a Positive California Prenatal Screen Result. J Clin Med. 2014 Jul 24; 3(3):849-64.
Shah FT, French KS, Osann KE, Bocian M, Jones MC, Korty L. PMID: 26237481; PMCID: PMC4449655.
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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.
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49 Fields:
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Humans
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Development and validation of a measure of dysmorphology: useful for autism subgroup classification. Am J Med Genet A. 2008 May 01; 146A(9):1101-16.
Miles JH, Takahashi TN, Hong J, Munden N, Flournoy N, Braddock SR, Martin RA, Bocian ME, Spence MA, Hillman RE, Farmer JE. PMID: 18383511.
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29 Fields:
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Humans
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Computed tomographic reconstruction of a fetus with the dysgnathia complex (agnathia-otocephaly). Prenat Diagn. 2007 Feb; 27(2):130-2.
Rajan PV, Wing DA, Bocian M, McKeown A. PMID: 17152114.
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1 Fields:
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Humans
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Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism. Am J Med Genet A. 2006 Nov 01; 140(21):2257-74.
Lainhart JE, Bigler ED, Bocian M, Coon H, Dinh E, Dawson G, Deutsch CK, Dunn M, Estes A, Tager-Flusberg H, Folstein S, Hepburn S, Hyman S, McMahon W, Minshew N, Munson J, Osann K, Ozonoff S, Rodier P, Rogers S, Sigman M, Spence MA, Stodgell CJ, Volkmar F. PMID: 17022081; PMCID: PMC4899843.
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184 Fields:
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Humans
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Preconception and prenatal testing of biologic fathers for carrier status. American College of Medical Genetics. Genet Med. 2006 Feb; 8(2):134-5.
Pletcher BA, Bocian M, American College of Medical Genetics. PMID: 16481898; PMCID: PMC3110958.
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5 Fields:
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Humans
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MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. Genet Couns. 2005; 16(2):117-28.
Garavelli L, Leask K, Zanacca C, Pedori S, Albertini G, Della Giustina E, Croci GF, Magnani C, Banchini G, Clayton-Smith J, Bocian M, Firth H, Gold JA, Hurst J. PMID: 16080291.
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9 Fields:
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Humans
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A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R. BMC Med Genet. 2004 Apr 16; 5:10.
Ramanathan S, Woodroffe A, Flodman PL, Mays LZ, Hanouni M, Modahl CB, Steinberg-Epstein R, Bocian ME, Spence MA, Smith M. PMID: 15090072; PMCID: PMC411038.
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34 Fields:
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HumansCells
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Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Ann Neurol. 2003 Jun; 53(6):801-4.
Filipek PA, Juranek J, Smith M, Mays LZ, Ramos ER, Bocian M, Masser-Frye D, Laulhere TM, Modahl C, Spence MA, Gargus JJ. PMID: 12783428.
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52 Fields:
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HumansCells
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Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation. J Inherit Metab Dis. 2003; 26(7):659-70.
Gargus JJ, Boyle K, Bocian M, Roe DS, Vianey-Saban C, Roe CR. PMID: 14707514.
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5 Fields:
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HumansCells
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Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits. Cytogenet Genome Res. 2002; 98(4):233-9.
Smith M, Woodroffe A, Smith R, Holguin S, Martinez J, Filipek PA, Modahl C, Moore B, Bocian ME, Mays L, Laulhere T, Flodman P, Spence MA. PMID: 12826745.
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23 Fields:
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HumansCells
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Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR. Cytogenet Cell Genet. 2001; 94(1-2):15-22.
Smith M, Escamilla JR, Filipek P, Bocian ME, Modahl C, Flodman P, Spence MA. PMID: 11701947.
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12 Fields:
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HumansCells
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Analysis of a 1-megabase deletion in 15q22-q23 in an autistic patient: identification of candidate genes for autism and of homologous DNA segments in 15q22-q23 and 15q11-q13. Am J Med Genet. 2000 Dec 04; 96(6):765-70.
Smith M, Filipek PA, Wu C, Bocian M, Hakim S, Modahl C, Spence MA. PMID: 11121177.
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12 Fields:
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HumansCells
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The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet. 1999 Dec; 8(13):2479-88.
Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M. PMID: 10556296.
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104 Fields:
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Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma. Am J Med Genet. 1999 Jan 01; 82(1):20-4.
Limwongse C, Schwartz S, Bocian M, Robin NH. PMID: 9916837.
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11 Fields:
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Humans
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A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p. Genome Res. 1997 Aug; 7(8):787-801.
Church DM, Yang J, Bocian M, Shiang R, Wasmuth JJ. PMID: 9267803.
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12 Fields:
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HumansCells
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Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet. 1996 Feb 02; 61(4):310-9.
Mortier GR, Lachman RS, Bocian M, Rimoin DL. PMID: 8834041.
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18 Fields:
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HumansAnimals
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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994 Jul 29; 78(2):335-42.
Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ. PMID: 7913883.
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292 Fields:
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Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization. Am J Med Genet. 1993 Apr 01; 46(1):77-82.
Bernstein R, Bocian ME, Cain MJ, Bengtsson U, Wasmuth JJ. PMID: 8494035.
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3 Fields:
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Hydrops fetalis in the McKusick-Kaufman syndrome: a case report. Am J Obstet Gynecol. 1991 Jul; 165(1):102-3.
Rosen RS, Bocian ME. PMID: 1853883.
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1 Fields:
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Importance of accurate diagnosis in counseling for neural tube defects diagnosed prenatally. Clin Genet. 1991 May; 39(5):355-61.
Steinhaus KA, Bernstein R, Bocian ME. PMID: 1713538.
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Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. Am J Med Genet. 1990 Jun; 36(2):183-95.
Stern HJ, Graham JM, Lachman RS, Horton W, Bernini PM, Spiegel PK, Bodurtha J, Ives EJ, Bocian M, Rimoin DL. PMID: 2368807.
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9 Fields:
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Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype. Am J Med Genet. 1987 Aug; 27(4):781-6.
Alvarado M, Bocian M, Walker AP. PMID: 3122568.
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12 Fields:
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Partial duplication 8q12----q21.2 in two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8. Am J Med Genet. 1987 May; 27(1):3-22.
Walker AP, Bocian M. PMID: 3300332.
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4 Fields:
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Lip pits and deletion 1q32----41. Am J Med Genet. 1987 Feb; 26(2):437-43.
Bocian M, Walker AP. PMID: 3812594.
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19 Fields:
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Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk. Am J Med Genet. 1986 Aug; 24(4):701-10.
Reid CO, Hall JG, Anderson C, Bocian M, Carey J, Costa T, Curry C, Greenberg F, Horton W, Jones M, et al. PMID: 2943157.
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7 Fields:
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HumansCells
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Familial diaphragmatic defects: early prenatal diagnosis and evidence for major gene inheritance. Am J Med Genet Suppl. 1986; 2:163-76.
Bocian M, Spence MA, Marazita ML, Walker AP, Weissberg DL. PMID: 3146286.
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2 Fields:
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Humans
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Genetic linkage analysis of neurofibromatosis. Ann N Y Acad Sci. 1986; 486:287-92.
Spence MA, Parry DM, Bader JL, Marazita ML, Bocian M, Funderburk SJ, Mulvihill JJ, Sparkes RS. PMID: 3105393.
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2 Fields:
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The spirit of dysmorphology future (or: Hoyle foiled) Am J Med Genet. 1984 Feb; 17(2):395-8.
Karp LE, Bocian M. PMID: 6702892.
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A syndrome of short stature, joint laxity and developmental delay. Clin Genet. 1982 Jul; 22(1):40-6.
Anderson CE, Bocian ME, Walker AP, Lachman R, Rimoin DL. PMID: 7172474.
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3 Fields:
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Ultrasonographic detection of fetal soft tissue swelling in the midtrimester: correlation with trisomy 18. Birth Defects Orig Artic Ser. 1982; 18(3 Pt A):165-71.
Bocian M, Patel J. PMID: 7126790.
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Recent cytogenetic advances and implications for pediatric practice. Pediatr Clin North Am. 1978 Aug; 25(3):517-38.
Bocian M, Mohandas T. PMID: 567777.
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Intrauterine diagnosis of triploidy: the use of radiologic and ultrasonographic techniques in conjunction with amniocentesis. Am J Med Genet. 1978; 1(3):323-32.
Bocian M, Karp LE, Mohandas T, Sarti D, Lachman R, Wisot A. PMID: 677172.
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Trisomy of the short arm of chromosome 8: association with translocation between chromosomes 8 and 22 46,XY,22-,t(8p22q) plus. Clin Genet. 1973 Jun; 4(6):507-16.
Rosenthal IM, Krmpotic E, Bocian M, Szego K. PMID: 4787842.
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12 Fields:
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HumansCells