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Human Mutation|January 1, 1993
Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis CenterM D Traystman, N Schulte, J L Colombo, et al.
Human Mutation|September 12, 2021
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert PanelPetros Kountouris, Coralea Stephanou, Carsten W Lederer, et al.
Human Mutation|August 23, 2022
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disordersJohann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, et al.
Human Mutation|August 23, 2022
A loss-of-function cysteine mutant in fibulin-3 (EFEMP1) forms aberrant extracellular disulfide-linked homodimers and alters extracellular matrix compositionDaNae R Woodard, Steffi Daniel, Emi Nakahara, et al.
Human Mutation|May 4, 2021
Exome sequencing as the first-tier test for pediatric respiratory diseases: A single-center studyChanjuan Hao, Ruolan Guo, Jun Liu, et al.
Human Mutation|May 4, 2021
Benchmarking deep learning splice prediction tools using functional splice assaysTabea V Riepe, Mubeen Khan, Susanne Roosing, et al.
Human Mutation|June 25, 2020
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disordersFatima Abdelfattah, Ariana Kariminejad, Anne-Karin Kahlert, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Human Mutation|May 23, 2020
Mutation prevalence tables for hereditary cancer derived from multigene panel testingSteven N Hart, Eric C Polley, Amal Yussuf, et al.
Human Mutation|May 26, 2020
Candidate genes for hereditary colorectal cancer: Mutational screening and systematic reviewSami Belhadj, Mariona Terradas, Pau M Munoz-Torres, et al.
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