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Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.Gastroenterology|April 1, 2018
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 DeficiencyJorik M van Rijn, Rico Chandra Ardy, Zarife Kuloğlu, et al.Human Mutation|March 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsiaMaria Solaki, Britta Baumann, Peggy Reuter, et al.European Journal of Human Genetics : EJHG|August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathologyHenry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.NPJ Genomic Medicine|March 1, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomaliesJil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, et al.American Journal of Human Genetics|December 29, 2005
GJB2 mutations and degree of hearing loss: a multicenter studyRikkert L Snoeckx, Patrick L M Huygen, Delphine Feldmann, et al.Brain : a Journal of Neurology|May 10, 2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegiaManuela Wiessner, Reza Maroofian, Meng-Yuan Ni, et al.Pageof 13