Nicole M. Roslin

SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis

Clemens Bergwitz, Nicole M. Roslin, Martin Tieder et al. · The American Journal of Human Genetics · 2006 · 488 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease

Young‐Hwan Hwang, John Conklin, Winnie Chan et al. · Journal of the American Society of Nephrology · 2015 · 160 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Data Integration in Genetics and Genomics: Methods and Challenges

Jemila S. Hamid, Pingzhao Hu, Nicole M. Roslin et al. · Human Genomics and Proteomics · 2009 · 150 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7

Sharan Goobie, M. Popović, Jodi Morrison et al. · The American Journal of Human Genetics · 2001 · 144 citations · Full text

Medicine, Endocrinology, Genetics +16

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe et al. · The American Journal of Human Genetics · 2006 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5