Nara Sobreira - Concepedia

Author

Nara Sobreira

Also Known As

Jaime Brum, Lee, Kristy, Monte Westerfield, N Sobreira, N. Sobreira, Nara L. Sobreira, Nara L. de Macena Sobreira, Nara Lygia D. Sobreira, Nara Lygia De Macena Sobreira, Nara Lygia Sobreira

106

Publications

4.6K

Citations

H-Index

Concepts

All Affiliations

Johns Hopkins University Johns Hopkins Medicine Baylor College of Medicine Universidade Federal de São Paulo National Human Genome Research Institute

About

Nara Sobreira is an author at Johns Hopkins University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	23	30	3.5K
2	Public Health	6	6	2.3K
3	Engineering	2	2	52
4	Natural Sciences	1	1	71
5	Allergy	1	1	31

Nara Sobreira

Publications

4.4K

Citations

H-Index

Page 1

	Year	Citations
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene Nara Sobreira, François Schiettecatte, David Valle, Human Mutation GeneticsGenetic EpidemiologyGenomicsGene RecognitionBioinformatics Database	2015	1.5K
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán, Human Mutation GeneticsGenetic EpidemiologyDatabasesGenomicsBioinformatics Database	2015	468
New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene Nara Sobreira, François Schiettecatte, Corinne D. Boehm, Human Mutation GeneticsGenetic EpidemiologyDisease Gene IdentificationGenomicsBioinformatics Database	2015	177
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis Anneline S.J.M. te Riele, Esperanza Agulló-Pascual, Cynthia A. James, Cardiovascular Research	2016	169
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss Akemi Tanaka, Megan T. Cho, Francisca Millan, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologySpata5 Are AssociatedGenetic DisorderGenetics	2015	158
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm Russell A. Gould, Hamza Aziz, Courtney E. Woods, Nature Genetics	2018	148
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Nature Communications	2017	106
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy Devesh C. Pant, Imen Dorboz, Agatha Schlüter, Journal of Clinical Investigation Myelin DevelopmentMyelin SheathNeurodegenerative DiseasesAmyotrophic Lateral SclerosisNeurological Disease	2019	101
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model Jiaqi Liu, Nan Wu, Nan Yang, Genetics in Medicine Compound InheritanceSpinal Cord InjuryCongenital ScoliosisSpine DeformityThoracic Spine	2019	89
Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature Jad M. El Abiad, Sarah M. Robbins, Bernard A. Cohen, American Journal of Medical Genetics Part A	2020	87

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