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American Journal of Medical Genetics. Part A|January 4, 2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephalyMoez Dawood, Gulsen Akay, Tadahiro Mitani, et al.Neurology. Genetics|June 24, 2022
Genome Sequencing in the Parkinson Disease ClinicEmily J Hill, Laurie A Robak, Rami Al-Ouran, et al.Journal of the National Cancer Institute|December 29, 2020
Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology GroupHe Li, Saumya D Sisoudiya, Bailey A Martin-Giacalone, et al.Genetics in Medicine Open|December 13, 2024
The impact of the Turkish population variome on the genomic architecture of rare disease traitsZeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, et al.Proceedings of the National Academy of Sciences of the United States of America|October 9, 2019
Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumorsAkash J Patel, Ying-Wooi Wan, Rami Al-Ouran, et al.Journal of Bacteriology|August 20, 2004
Complete genome sequence of Rickettsia typhi and comparison with sequences of other rickettsiaeMichael P McLeod, Xiang Qin, Sandor E Karpathy, et al.The New England Journal of Medicine|March 12, 2010
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathyJames R Lupski, Jeffrey G Reid, Claudia Gonzaga-Jauregui, et al.Journal of Clinical Immunology|July 31, 2014
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosyAsbjorg Stray-Pedersen, Emmanuelle Jouanguy, Amandine Crequer, et al.Nature|June 5, 2014
Novel somatic and germline mutations in intracranial germ cell tumoursLinghua Wang, Shigeru Yamaguchi, Matthew D Burstein, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.Pageof 65