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Movement Disorders : Official Journal of the Movement Disorder Society|June 20, 2024
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement DisordersJuan Darío Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, et al.
American Journal of Human Genetics|March 7, 2020
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain CalcificationLucia V Schottlaender, Rosella Abeti, Zane Jaunmuktane, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Pathogenic variants in <i>BORCS5</i> Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal DysfunctionNiccolò E Mencacci, Georgia Minakaki, Reza Maroofian, et al.
American Journal of Human Genetics|October 29, 2024
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemiaScott Barish, Sheng-Jia Lin, Reza Maroofian, et al.
Investigative Ophthalmology & Visual Science|October 7, 2020
SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital GlaucomaTerri L Young, Kristina N Whisenhunt, Jing Jin, et al.
Human Genomics|July 14, 2021
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autismEvin M Padhi, Tristan J Hayeck, Zhang Cheng, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
American Journal of Human Genetics|February 24, 2026
Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalitiesDavut Pehlivan, Abigail Sandoval, Reza Maroofian, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.
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