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Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|December 6, 2006
A study to determine the effects of food and multiple dosing on the pharmacokinetics of vorinostat given orally to patients with advanced cancerEric H Rubin, Nancy G B Agrawal, Evan J Friedman, et al.
Annals of Neurology|July 6, 2004
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutationsPankaj B Agrawal, Corinne D Strickland, Charles Midgett, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial diseaseMugdha Joshi, Irina Anselm, Jiahai Shi, et al.
European Journal of Medical Genetics|November 2, 2013
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this conditionCatherine A Brownstein, Meghan C Towne, Lovelace J Luquette, et al.
Journal of the American College of Cardiology|March 28, 2015
Cofilin-2 phosphorylation and sequestration in myocardial aggregates: novel pathogenetic mechanisms for idiopathic dilated cardiomyopathyKhaushik Subramanian, Davide Gianni, Cristina Balla, et al.
Muscle & Nerve|November 10, 2018
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlationsAnita E Qualls, Sandra Donkervoort, Johanna C Herkert, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndromePhilip M Boone, Scott Paterson, Kiana Mohajeri, et al.
European Journal of Human Genetics : EJHG|February 2, 2021
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesisYanjia Jason Zhang, Lissette Jimenez, Svetlana Azova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 27, 2021
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq ProjectMonica H Wojcik, Tian Zhang, Ozge Ceyhan-Birsoy, et al.
European Journal of Human Genetics : EJHG|February 20, 2014
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemiaMugdha Joshi, Jacqueline Eagan, Nirav K Desai, et al.
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