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Neurology|February 11, 2021
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive VasculopathyAmélie Pinard, Maximillian D J Fiander, Alana C Cecchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2020
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfallsKevin M Bowling, Michelle L Thompson, David E Gray, et al.
Genome Research|September 19, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disordersSusan M Hiatt, James M J Lawlor, Lori H Handley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 10, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James M J Lawlor, Susan M Hiatt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
A state-based approach to genomics for rare disease and population screeningKelly M East, Whitley V Kelley, Ashley Cannon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2026
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disordersZain Awamleh, Anthony Chen, Sanaa Choufani, et al.
Brain : a Journal of Neurology|February 9, 2022
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphologySiddharth Banka, Abigail Bennington, Martin J Baker, et al.
International Journal of Molecular Sciences|July 27, 2022
DNA Methylation Signature for JARID2-Neurodevelopmental SyndromeEline A Verberne, Liselot van der Laan, Sadegheh Haghshenas, et al.
Human Molecular Genetics|June 2, 2019
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesLina Liang, Xia Li, Sébastien Moutton, et al.
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