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kaitlyn e
(38 results)?
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005.
Am J Hum Genet. 2023.
PMID: 37541189
Free PMC article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F.
Scala M, et al.
Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21.
Am J Hum Genet. 2024.
PMID: 38387458
Free PMC article.
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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG.
Donkervoort S, et al.
Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4.
Ann Clin Transl Neurol. 2024.
PMID: 38311799
Free PMC article.
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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Ezell KM, Tinker RJ, Furuta Y, Gulsevin A, Bastarache L, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Kozuria M, Phillips JA 3rd; Undiagnosed Diseases Network.
Ezell KM, et al.
Am J Med Genet A. 2024 Mar 21:e63597. doi: 10.1002/ajmg.a.63597. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38511854
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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM.
Rael VE, et al.
J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23.
J Exp Med. 2024.
PMID: 38780621
Free PMC article.
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF; Undiagnosed Diseases Network; Tekin M, Züchner S.
Dohrn MF, et al.
Ann Clin Transl Neurol. 2024 Apr;11(4):1075-1079. doi: 10.1002/acn3.51963. Epub 2024 Mar 19.
Ann Clin Transl Neurol. 2024.
PMID: 38504481
Free PMC article.
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Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.
Pucel J, Briere LC, Reuter C, Gochyyev P; Undiagnosed Diseases Network; LeBlanc K.
Pucel J, et al.
Genet Med. 2024 Mar 1;26(6):101115. doi: 10.1016/j.gim.2024.101115. Online ahead of print.
Genet Med. 2024.
PMID: 38436216
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