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Medrxiv : the Preprint Server for Health Sciences|May 4, 2026
Determinants of DNA-sequence-based Diagnostic Yield in the CSER ConsortiumYusuph Mavura, David Crosslin, Kathleen Ferar, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 10, 2025
Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1BTomer Poleg, Noam Hadar, Eyal Kristal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2023
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsyLydia von Wintzingerode, Bruria Ben-Zeev, Claudia Cesario, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Biorxiv : the Preprint Server for Biology|January 30, 2023
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingStephanie A Felker, James Mj Lawlor, Susan M Hiatt, et al.
American Journal of Human Genetics|March 19, 2019
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderSusan M Hiatt, Michelle L Thompson, Jeremy W Prokop, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, 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.
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