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Human Mutation|January 4, 2020
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifidaXuanye Cao, Tian Tian, John W Steele, et al.
Human Mutation|January 4, 2020
Further delineation of putative ACTB loss-of-function variants: A 4-patient seriesMatthias Baumann, Erin M Beaver, María Palomares-Bralo, et al.
Human Mutation|January 4, 2020
A human minisatellite hosts an alternative transcription start site for NPRL3 driving its expression in a repeat number-dependent mannerMaria Bertuzzi, Dave Tang, Raffaella Calligaris, et al.
Human Mutation|April 6, 2020
Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicismLan Kluwe, Reinhard E Friedrich, Said C Farschtschi, et al.
Human Mutation|April 1, 2018
A PIGH mutation leading to GPI deficiency is associated with developmental delay and autismThi Tuyet Mai Nguyen, Sonal Mahida, Constance Smith-Hicks, et al.
Human Mutation|November 30, 2018
The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosisLuka A Clarke, Nikhil T Awatade, Veronica M Felício, et al.
Human Mutation|November 30, 2018
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial functionKatta M Girisha, Leonie von Elsner, Kausthubham Neethukrishna, et al.
Human Mutation|December 6, 2019
Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndromeYohan Bignon, Imene Sakhi, Sara Bitam, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Human Mutation|November 30, 2020
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short statureNoor U Ain, Niaz Muhammad, Mehdi Dianatpour, et al.
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