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Epilepsia|March 21, 2025
MBOAT7 encephalopathy: Characterizing the neurology and epileptologySebastian Ortiz De la Rosa, Valentina Rizzo, Robin-Tobias Jauss, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
American Journal of Human Genetics|August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
American Journal of Human Genetics|February 1, 2023
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephalyMargaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease RelationshipsEleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort studyTaila Hartley, Deborah Marshall, Meryl Acker, et al.
Journal of Medical Genetics|August 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literatureFrancesca Peluso, Stefano G Caraffi, Gianluca Contrò, et al.
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