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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
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
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Tinker RJ, Bastarache L, Ezell K, Kobren SN, Esteves C, Rosenfeld JA, Macnamara EF, Hamid R, Cogan JD, Rinker D, Mukharjee S, Glass I, Dipple K, Phillips JA 3rd; Undiagnosed Diseases Network.
Tinker RJ, et al.
Am J Med Genet A. 2023 Oct;191(10):2482-2492. doi: 10.1002/ajmg.a.63309. Epub 2023 May 29.
Am J Med Genet A. 2023.
PMID: 37246601
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Novel variant in CADM3 causes Charcot-Marie-Tooth disease.
Yalcouyé A, Rebelo AP, Cissé L, Rives L, Bamba S, Cogan J, Esoh K, Diarra S, Ezell KM, Taméga A, Guinto CO, Dohrn MF, Hamid R, Fischbeck KH, Zuchner S, Landouré G.
Yalcouyé A, et al. Among authors: ezell km.
Brain Commun. 2023 Sep 5;5(5):fcad227. doi: 10.1093/braincomms/fcad227. eCollection 2023.
Brain Commun. 2023.
PMID: 38074074
Free PMC article.
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Data from electronic healthcare records expand our understanding of X-linked genetic diseases.
Tinker RJ, Bastarache L, Ezell K, Neumann SM, Furuta Y, Morgan KA, Phillips JA 3rd.
Tinker RJ, et al.
Am J Med Genet A. 2024 May;194(5):e63527. doi: 10.1002/ajmg.a.63527. Epub 2024 Jan 16.
Am J Med Genet A. 2024.
PMID: 38229216
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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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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
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 E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT.
Kohler JN, et al.
Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print.
Genet Med. 2024.
PMID: 38767059
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
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.
Chen Y, et al.
medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438.
medRxiv. 2024.
PMID: 38645094
Free PMC article.
Preprint.
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