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Human Molecular Genetics|July 13, 2014
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stabilityAnne Raimondo, Ali J Chakera, Soren K Thomsen, et al.Human Molecular Genetics|September 5, 2014
Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cellsMinoru Okada, Shiro Ikegawa, Miho Morioka, et al.Human Molecular Genetics|August 30, 2014
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth diseaseDavid Pla-Martín, Eduardo Calpena, Vincenzo Lupo, et al.Human Molecular Genetics|August 30, 2014
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndromeHuijun Wang, Xu Cao, Zhimiao Lin, et al.Human Molecular Genetics|March 3, 2016
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndromeSungkook Hong, Ping Hu, Juliana Marino, et al.Human Molecular Genetics|March 13, 2016
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiencyAvnika A Ruparelia, Viola Oorschot, Georg Ramm, et al.Human Molecular Genetics|March 16, 2016
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiationAtsushi Intoh, Naoki Suzuki, Kathryn Koszka, et al.Human Molecular Genetics|June 28, 2016
Modeling craniofacial and skeletal congenital birth defects to advance therapiesCynthia L Neben, Ryan R Roberts, Katrina M Dipple, et al.Human Molecular Genetics|June 23, 2016
MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female ratsKelsey C Patterson, Virginia E Hawkins, Kara M Arps, et al.Human Molecular Genetics|October 30, 2015
Reduced PLP2 expression increases ER-stress-induced neuronal apoptosis and risk for adverse neurological outcomes after hypoxia ischemia injuryLilei Zhang, Tao Wang, David VallePageof 1,195