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Human Mutation|November 30, 2020
Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs modelPooja Biswas, Shyamanga Borooah, Hiroko Matsui, et al.
Human Mutation|February 21, 2018
Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patientsJake R Saklatvala, Nick Dand, Michael A Simpson
Human Mutation|February 21, 2018
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicityMara Colombo, Irene Lòpez-Perolio, Huong D Meeks, et al.
Human Mutation|November 4, 2017
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndromeSimona Di Lascio, Roberta Benfante, Eleonora Di Zanni, et al.
Human Mutation|March 1, 2020
TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scramblingEleonora Di Zanni, Antonella Gradogna, Cristiana Picco, et al.
Human Mutation|June 22, 2016
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome SequencingChristopher P Barnett, Nathalie J Nataren, Manuela Klingler-Hoffmann, et al.
Human Mutation|November 10, 2020
Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertilityTong-Yao Hu, Huan Zhang, Lan-Lan Meng, et al.
Human Mutation|November 10, 2020
A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genesMourad Wagdy Ali, C Pawan K Patro, Jacqueline Jufen Zhu, et al.
Human Mutation|November 1, 2020
Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndromeCharles M Pearman, Nathan C Denham, Robert W Mills, et al.
Human Mutation|July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.
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