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Page 1
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschütter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ; Care4Rare Consortium; van der Knaap MS, Wolf NI. Simons C, et al. Among authors: kernohan k. Brain. 2017 Dec 1;140(12):3105-3111. doi: 10.1093/brain/awx314. Brain. 2017. PMID: 29186371 Free PMC article.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics; Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Dyment DA, et al. Among authors: kernohan k. Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098347 Free PMC article.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN; Care4Rare Canada Consortium; Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. Whalen S, et al. Eur J Hum Genet. 2021 Sep;29(9):1405-1417. doi: 10.1038/s41431-021-00821-0. Epub 2021 Feb 18. Eur J Hum Genet. 2021. PMID: 33603160 Free PMC article.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. Snijders Blok L, et al. Among authors: kernohan kd. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36408368 Free PMC article.
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL; Care4Rare Canada Consortium; Dudding-Byth T, Boycott KM. Zambonin JL, et al. Among authors: kernohan k. Orphanet J Rare Dis. 2017 Jun 28;12(1):121. doi: 10.1186/s13023-017-0672-7. Orphanet J Rare Dis. 2017. PMID: 28659154 Free PMC article. Review.
86 results