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Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.Gastroenterology|November 1, 2023
An NFATc1/SMAD3/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational TherapiesMarie C Hasselluhn, Denise Schlösser, Lennart Versemann, et al.American Journal of Human Genetics|June 23, 2023
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humansLong Guo, Smrithi Salian, Jing-Yi Xue, et al.Nature Genetics|August 20, 2008
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasiaBirgit S Budde, Yasmin Namavar, Peter G Barth, et al.American Journal of Human Genetics|January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathiesNataliya Di Donato, , Andrew Thom, et al.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|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.Nature|January 29, 2025
Engineered heart muscle allografts for heart repair in primates and humansAhmad-Fawad Jebran, Tim Seidler, Malte Tiburcy, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.Pageof 17