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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: morel c. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing.
Shickh S, Mighton C, Clausen M, Kodida R, Adi-Wauran E, Hirjikaka D, Krishnapillai S, Reble E, Sam J, Baxter NN, Laupacis A, Bombard Y; Incidental Genomics Study Team. Shickh S, et al. Genet Med. 2023 Dec;25(12):100960. doi: 10.1016/j.gim.2023.100960. Epub 2023 Aug 11. Genet Med. 2023. PMID: 37577963
A model for the return and referral of all clinically significant secondary findings of genomic sequencing.
Kodida R, Reble E, Clausen M, Shickh S, Mighton C, Sam J, Forster N, Panchal S, Aronson M, Semotiuk K, Graham T, Silberman Y, Randall Armel S, McCuaig JM, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Di Gioacchino V, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Kodida R, et al. Among authors: morel cf. J Med Genet. 2023 Aug;60(8):733-739. doi: 10.1136/jmg-2022-109091. Epub 2023 May 22. J Med Genet. 2023. PMID: 37217257 Review.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA 2nd, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M; Undiagnosed Diseases Network; Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. Guillen Sacoto MJ, et al. Among authors: morel cf. Am J Hum Genet. 2020 Aug 6;107(2):352-363. doi: 10.1016/j.ajhg.2020.06.013. Epub 2020 Jul 20. Am J Hum Genet. 2020. PMID: 32693025 Free PMC article.
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H; Care4Rare Canada; Chung WK, Zweier C. Schmid CM, et al. Among authors: morel cf. Genet Med. 2023 Jul;25(7):100839. doi: 10.1016/j.gim.2023.100839. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057675
Great expectations: patients' preferences for clinically significant results from genomic sequencing.
Shickh S, Sebastian A, Clausen M, Mighton C, Elser C, Eisen A, Waldman L, Panchal S, Ward T, Carroll JC, Glogowski E, Schrader KA, Lerner-Ellis J, Kim RH, Thorpe KE, Bombard Y; Incidental Genomics Team members to be indexed in PubMed. Shickh S, et al. Hum Genet. 2023 Apr;142(4):553-562. doi: 10.1007/s00439-023-02543-3. Epub 2023 Mar 21. Hum Genet. 2023. PMID: 36943453
628 results