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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039.
Brain. 2023.
PMID: 36757831
Free PMC article.
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E.
Berger SI, et al. Among authors: andrew eh.
Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17.
Clin Genet. 2023.
PMID: 37194472
Free PMC article.
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Using a chat-based informed consent tool in large-scale genomic research.
Savage SK, LoTempio J, Smith ED, Andrew EH, Mas G, Kahn-Kirby AH, Délot E, Cohen AJ, Pitsava G, Nussbaum R, Fusaro VA, Berger S, Vilain E.
Savage SK, et al. Among authors: andrew eh.
J Am Med Inform Assoc. 2024 Jan 18;31(2):472-478. doi: 10.1093/jamia/ocad181.
J Am Med Inform Assoc. 2024.
PMID: 37665746
Free PMC article.
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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: andrew eh.
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.
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"Development and Implementation of Novel Chatbot-based Genomic Research Consent".
Smith ED, Savage SK, Andrew EH, Martin GM, Kahn-Kirby AH, LoTempio J, Délot E, Cohen AJ, Pitsava G, Berger S, Fusaro VA, Vilain E.
Smith ED, et al. Among authors: andrew eh.
bioRxiv [Preprint]. 2023 Jan 24:2023.01.23.525221. doi: 10.1101/2023.01.23.525221.
bioRxiv. 2023.
PMID: 36747692
Free PMC article.
Preprint.
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