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Human Mutation|November 15, 2013
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrumKarim Bouchireb, Olivia Boyer, Olivier Gribouval, et al.
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
Human Mutation|February 7, 2018
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassemblyZuzana Slamova, Lusine Nazaryan-Petersen, Mana M Mehrjouy, et al.
Human Mutation|November 22, 2017
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosaMuriël Messchaert, Lonneke Haer-Wigman, Muhammad I Khan, et al.
Human Mutation|December 9, 2017
Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancerMarialuisa Sponziello, Silvia Benvenuti, Alessandra Gentile, et al.
Human Mutation|December 16, 2017
A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large familyWhitney Besse, Jungmin Choi, Dina Ahram, et al.
Human Mutation|December 16, 2017
Autosomal recessive primary microcephaly due to ASPM mutations: An updatePascaline Létard, Séverine Drunat, Yoann Vial, et al.
Human Mutation|December 31, 2017
Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patientsHarry Lesmana, Lisa Dyer, Xia Li, et al.
Human Mutation|December 22, 2017
Exonic mutations and exon skipping: Lessons learned from DFNA5Kevin T Booth, Hela Azaiez, Kimia Kahrizi, et al.
Human Mutation|December 30, 2017
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafishWolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, et al.
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