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Human Mutation|July 10, 2021
Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancerSharon E Johnatty, Tina Pesaran, Jill Dolinsky, et al.
Human Mutation|July 2, 2021
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsyAnna Marcé-Grau, Xabier Elorza-Vidal, Carla Pérez-Rius, et al.
Human Mutation|March 19, 2013
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domainPartha Sen, Yaping Yang, Colby Navarro, et al.
Human Mutation|November 20, 2012
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiencyMartin H Berryer, Fadi F Hamdan, Laura L Klitten, et al.
Human Mutation|April 5, 2013
RyR1 deficiency in congenital myopathies disrupts excitation-contraction couplingHaiyan Zhou, Ori Rokach, Lucy Feng, et al.
Human Mutation|April 5, 2013
Transduction-specific ATLAS reveals a cohort of highly active L1 retrotransposons in human populationsCatriona M Macfarlane, Pamela Collier, Raheleh Rahbari, et al.
Human Mutation|April 6, 2013
TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and updateSerena Lattante, Guy A Rouleau, Edor Kabashi
Human Mutation|May 8, 2013
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1bStéphanie Maupetit-Méhouas, Salah Azzi, Virginie Steunou, et al.
Human Mutation|May 11, 2013
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiencyXiaohui Tan, Sarah L Anzick, Sikandar G Khan, et al.
Human Mutation|May 23, 2013
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial diseaseEmma L Blakely, John W Yarham, Charlotte L Alston, et al.
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