Andrew R. Cullinane - Concepedia

Author

Andrew R. Cullinane

National Human Genome Research Institute

Also Known As

Andrew Cullinane, Andrew R Cullinane, Andrew R. Cullinane, Andrew Robert Cullinane, Andrew R. Cullinane, NISC Comparative Sequencing Program

Publications

2.2K

Citations

H-Index

Concepts

All Affiliations

National Human Genome Research Institute National Institutes of Health University of Birmingham Office of the Director Birmingham Women's Hospital

About

Andrew R. Cullinane is an author at National Human Genome Research Institute specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	16	18	1.2K
2	Cell Biology	8	8	479
3	Engineering	1	1	40
4	Health Sciences	1	1	10
5	Public Health	1	1	129

Andrew R. Cullinane

Publications

1.9K

Citations

H-Index

Page 1

	Year	Citations
The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation Helen R. Dawe, Ursula M. Smith, Andrew R. Cullinane, Human Molecular Genetics	2006	273
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization Andrew R. Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Nature Genetics UrologyAutoimmune DiseaseCholestasis Syndrome PhenotypeGenetic DisorderMedicine	2010	178
Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderMedicinePathogenesisPathology	2011	168
A Congenital Neutrophil Defect Syndrome Associated with Mutations in<i>VPS45</i> Thierry Vilboux, Atar Lev, May Christine V. Malicdan, New England Journal of Medicine	2013	142
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center Thierry Vilboux, Dan Doherty, Ian A. Glass, Genetics in Medicine Mendelian DisorderJoubert SyndromeGenetic DisorderGeneticsMolecular Genetic Findings	2017	129
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1 Thomas C. Markello, Dong Chen, Justin Kwan, Molecular Genetics and Metabolism York Platelet SyndromeMendelian DisorderBlood PlateletGenetic DisorderGenetics	2014	106
RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9 Andrew R. Cullinane, James A. Curry, Carmelo Carmona‐Rivera, The American Journal of Human Genetics Pldn IsGenetic DisorderGeneticsMolecular GeneticsMutagenesis	2011	105
Spectrum of<i>MKS1</i>and<i>MKS3</i>mutations in Meckel syndrome: a genotype-phenotype correlation Rana Khaddour, Ursula M. Smith, Lekbir Baala, Human Mutation	2007	100
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome Holly Smith, Romain Galmes, Ekaterina Gogolina, Human Mutation GeneticsRenal PathologyPathologyDisease Gene IdentificationGlomerulonephritis	2012	88
Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia Andrew R. Cullinane, Thierry Vilboux, Kevin O’Brien, Journal of Investigative Dermatology Homozygosity MappingGenetic DisorderWhole-exome SequencingGeneticsMedicine	2011	73

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