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212 results

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Page 1
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G; Undiagnosed Diseases Network; Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A. Royer-Bertrand B, et al. Among authors: burrage lc. Mol Autism. 2021 Oct 26;12(1):69. doi: 10.1186/s13229-021-00473-3. Mol Autism. 2021. PMID: 34702355 Free PMC article.
De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations.
Probst FJ, James RA, Burrage LC, Rosenfeld JA, Bohan TP, Ward Melver CH, Magoulas P, Austin E, Franklin AI, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont JW, Ware SM, Shaw C, Cheung SW, Lalani SR. Probst FJ, et al. Among authors: burrage lc. Orphanet J Rare Dis. 2015 Jun 14;10:75. doi: 10.1186/s13023-015-0291-0. Orphanet J Rare Dis. 2015. PMID: 26070612 Free PMC article.
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. Bashamboo A, et al. Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4. Hum Mol Genet. 2016. PMID: 27378692 Free PMC article.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. Shashi V, et al. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693232 Free PMC article.
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC. Machol K, et al. Among authors: burrage lc. Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26. Am J Med Genet A. 2017. PMID: 27888646 Free PMC article.
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG; Undiagnosed Diseases Network; Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV. Chao HT, et al. Am J Hum Genet. 2017 Jan 5;100(1):128-137. doi: 10.1016/j.ajhg.2016.11.018. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017372 Free PMC article.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan; Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA. Santiago-Sim T, et al. Among authors: burrage lc. Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23. Am J Hum Genet. 2017. PMID: 28343629 Free PMC article.
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Marom R, Jain M, Burrage LC, Song IW, Graham BH, Brown CW, Stevens SJC, Stegmann APA, Gunter AT, Kaplan JD, Gavrilova RH, Shinawi M, Rosenfeld JA, Bae Y, Tran AA, Chen Y, Lu JT, Gibbs RA, Eng C, Yang Y, Rousseau J, de Vries BBA, Campeau PM, Lee B. Marom R, et al. Among authors: burrage lc. Hum Mutat. 2017 Oct;38(10):1365-1371. doi: 10.1002/humu.23282. Epub 2017 Jul 10. Hum Mutat. 2017. PMID: 28649782 Free PMC article.
212 results