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Molecular Genetics & Genomic Medicine|May 27, 2017
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasiaAnna E von Bohlen, Johann Böhm, Ramona Pop, et al.Molecular Genetics & Genomic Medicine|May 27, 2017
Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patientsMargot A Cousin, Eric T Matey, Patrick R Blackburn, et al.Molecular Genetics & Genomic Medicine|May 27, 2017
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1Patrick R Blackburn, Duygu Selcen, Jennifer M Gass, et al.Molecular Genetics & Genomic Medicine|February 5, 2022
Multiregion sequencing of sarcomatoid renal cell carcinoma arising from autosomal dominant polycystic kidney diseaseElizabeth Lee, Peiyong Guan, Abner Herbert Lim, et al.Molecular Genetics & Genomic Medicine|October 20, 2021
Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testingIskra Peltekova, Afiqah Yusuf, Jennifer Frei, et al.Molecular Genetics & Genomic Medicine|February 22, 2022
Adult-onset Niemann-Pick disease type C masquerading as spinocerebellar ataxiaMary L Vo, Tess Levy, Shenela Lakhani, et al.Molecular Genetics & Genomic Medicine|February 21, 2022
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delayGiavanna Verdi, Dong Li, Sarah H Elsea, et al.Molecular Genetics & Genomic Medicine|February 21, 2022
PMS2 variant results in loss of ATPase activity without compromising mismatch repairBrandon M D'Arcy, Jennifer Arrington, Justin Weisman, et al.Molecular Genetics & Genomic Medicine|September 22, 2021
Alteration of PPAR-GAMMA (PPARG; PPARγ) and PTEN gene expression in acute myeloid leukemia patients and the promising anticancer effects of PPARγ stimulation using pioglitazone on AML cellsShadi Esmaeili, Sina Salari, Vahid Kaveh, et al.Molecular Genetics & Genomic Medicine|October 28, 2021
A spotter's guide to SNPtic exons: The common splice variants underlying some SNP-phenotype correlationsNiall Patrick Keegan, Sue FletcherPageof 253