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Human Mutation|May 22, 2019
Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortexIsabel A Hemming, Olivier Clément, Ivan E Gladwyn-Ng, et al.
Human Mutation|August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsiaNicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
Human Mutation|April 26, 2019
Mutation update for the SATB2 geneYuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, et al.
Human Mutation|October 18, 2018
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsyCheryl Shoubridge, Robert J Harvey, Tracy Dudding-Byth
Human Mutation|April 25, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, et al.
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Human Mutation|April 26, 2018
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12André B P van Kuilenburg, Maja Tarailo-Graovac, Judith Meijer, et al.
Human Mutation|April 27, 2018
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genesOzge Ceyhan-Birsoy, Maya M Miatkowski, Elizabeth Hynes, et al.
Human Mutation|August 12, 2018
Exploring genetic modifiers of Gaucher disease: The next horizonBrad A Davidson, Shahzeb Hassan, Eric Joshua Garcia, et al.
Human Mutation|October 7, 2021
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndromeKoki Nagai, Tetsuya Niihori, Nobuhiko Okamoto, et al.
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