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Human Molecular Genetics|June 29, 2022
Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence dataWonji Kim, Julian Hecker, R Graham Barr, et al.Human Molecular Genetics|July 7, 2022
Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiologyG C Murray, P Bais, C L Hatton, et al.Human Molecular Genetics|July 1, 2022
Developmental genome-wide occupancy analysis of bZIP transcription factor NRL uncovers the role of c-Jun in early differentiation of rod photoreceptors in the mammalian retinaXulong Liang, Matthew J Brooks, Anand SwaroopHuman Molecular Genetics|November 28, 2022
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosisIrma van de Beek, Iris E Glykofridis, Jan C Oosterwijk, et al.Human Molecular Genetics|November 29, 2022
Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney diseaseYang Pan, Xiao Sun, Xuenan Mi, et al.Human Molecular Genetics|November 25, 2022
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variantSarantuya Enkhjargal, Kana Sugahara, Behnoush Khaledian, et al.Human Molecular Genetics|June 19, 2022
Rare germline deleterious variants increase susceptibility for lung cancerJian Sang, Tongwu Zhang, Jung Kim, et al.Human Molecular Genetics|May 5, 2022
Exome risk score for predicting susceptibility to and severity of isolated thoracic aortic aneurysmYang Li, Li Song, Wei Rong, et al.Human Molecular Genetics|May 21, 2019
A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesiaAgnes Cheong, Rinat Degani, Kimberly D Tremblay, et al.Human Molecular Genetics|May 26, 2019
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressureYun Ju Sung, Lisa de las Fuentes, Thomas W Winkler, et al.Pageof 1,195