M. Tuchman

Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

Meral Gunay‐Aygun, Esperanza Font–Montgomery, Linda Lukose et al. · Clinical Journal of the American Society of Nephrology · 2010 · 127 citations · Full text

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

Meral Gunay‐Aygun, M. Tuchman, Esperanza Font–Montgomery et al. · Molecular Genetics and Metabolism · 2009 · 98 citations · Full text

Pkhd1 Sequence Variations, Hepatology, Mendelian Disorder +9

MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome

Meral Gunay‐Aygun, Melissa A. Parisi, Dan Doherty et al. · The Journal of Pediatrics · 2009 · 37 citations · Full text

Urology, Mendelian Disorder, Joubert Syndrome +9

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

Wendy Westbroek, M. Tuchman, Bradford Tinloy et al. · Molecular Genetics and Metabolism · 2008 · 35 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35

Marshall Summar, M.J. Dasouki, PR Schofield et al. · Cytogenetic and Genome Research · 1995 · 31 citations