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American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.American Journal of Human Genetics|March 21, 2017
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex CongenitaShifeng Xue, Jérôme Maluenda, Florent Marguet, et al.Clinical Genetics|January 24, 2017
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizuresD Stern, M T Cho, R Chikarmane, et al.Biological Psychiatry Global Open Science|July 31, 2023
Illness Phase as a Key Assessment and Intervention Window for PsychosisChristian G Kohler, Daniel H Wolf, Anissa Abi-Dargham, et al.American Journal of Human Genetics|December 26, 2017
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in DrosophilaJonas Straub, Enrico D H Konrad, Johanna Grüner, et al.Molecular Cell|October 12, 2021
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brainSanxiong Liu, Kimberly A Aldinger, Chi Vicky Cheng, et al.Human Molecular Genetics|October 17, 2017
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defectsAnne Slavotinek, Maurizio Risolino, Marta Losa, et al.Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.American Journal of Human Genetics|February 13, 2018
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris SyndromeGeorgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.Pageof 40