Nicole M. Roslin - Concepedia

Author

Nicole M. Roslin

Hospital for Sick Children ORCID

Also Known As

N M Roslin, N.M. Roslin, NICOLE M. ROSLIN, Nicole M Roslin, Nicole M. Roslin, Nicole Roslin, Roslin, Nicole M.

Publications

1.8K

Citations

H-Index

Concepts

All Affiliations

Hospital for Sick Children University of Toronto McGill University SickKids Foundation McGill University Health Centre

About

Nicole M. Roslin is an author at Hospital for Sick Children specializing in medicine, genetics, and public health.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	11	924
2	Public Health	5	5	93
3	Biostatistics	3	3	55
4	Epidemiology	2	2	37
5	Biology	1	1	25

Nicole M. Roslin

Publications

1.7K

Citations

H-Index

Page 1

	Year	Citations
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, The American Journal of Human Genetics Slc34a3 MutationsUrologyMolecular PhysiologySodium HomeostasisGenetic Disorder	2006	479
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease Young‐Hwan Hwang, John Conklin, Winnie Chan, Journal of the American Society of Nephrology	2015	153
Data Integration in Genetics and Genomics: Methods and Challenges Jemila S. Hamid, Pingzhao Hu, Nicole M. Roslin, Human Genomics and Proteomics	2009	149
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, The American Journal of Human Genetics ChromatinBone Marrow FailureGeneticsHematologyPathology	2001	142
Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) Martin Hřebı́ček, Lenka Mrázová, Volkan Seyrantepe, The American Journal of Human Genetics Sanfilippo C SyndromeAutoimmune DiseaseGenetic DisorderPathogenesisPathology	2006	95
<i>PMPCA</i>mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia Rebekah Jobling, Mirna Assoum, Oleksandr Gakh, Brain	2015	75
The most common mutation inFKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations Patrick Frosk, Cheryl R. Greenberg, Alysa A.P. Tennese, Human Mutation	2004	75
Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Not Caused by Mutations in the Na/Pi Cotransporter NPT2 Gene A Jones, Jordana Tzenova, Danielle Frappier, Journal of the American Society of Nephrology	2001	69
Reduced proportions of natural killer T cells are present in the relatives of lupus patients and are associated with autoimmunity Joan Wither, Yong-Chun Cai, Sooyeol Lim, Arthritis Research & Therapy	2008	46
<i>OTX2</i> mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium Ajoy Vincent, Nicole Forster, Jason T. Maynes, Journal of Medical Genetics	2014	44

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