Avni Santani - Concepedia

Author

Avni Santani

Children's Hospital of Philadelphia ORCID

Also Known As

A Santani, A. Santani, Avni B. Santani, Avni Santani, C Ravishankar, Chelsea M Pagan, Mao, Rong, Santani, A., Santani, Avni, Santani, Avni B.

Publications

3.8K

Citations

H-Index

Concepts

All Affiliations

Children's Hospital of Philadelphia University of Pennsylvania Harvard University University of Washington Baylor College of Medicine

About

Avni Santani is an author at Children's Hospital of Philadelphia specializing in medicine, genetics, and molecular diagnostics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	23	26	3K
2	Public Health	5	5	1.4K
3	Engineering	3	3	370
4	Arts	1	1	39
5	Natural Sciences	1	1	19

Avni Santani

Publications

3.5K

Citations

H-Index

Page 1

	Year	Citations
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource Natasha T. Strande, Erin Rooney Riggs, Adam H. Buchanan, The American Journal of Human Genetics Clinical Genome ResourceGene-disease AssociationsGenome-wide Association StudyClinical ValidityMedicine	2017	536
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between Gail P. Jarvik, Laura M. Amendola, Jonathan S. Berg, The American Journal of Human Genetics Genomic ResultsGenetic TestingResearch ParticipantsGeneticsStatistical Genetics	2014	368
Actionable exomic incidental findings in 6503 participants: challenges of variant classification Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson, Genome Research Genome-wide Association StudyEpidemiologySequencingExome SequencingGenetics	2015	356
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing Diana Mandelker, Ryan J. Schmidt, Arunkanth Ankala, Genetics in Medicine EngineeringGeneticsMolecular BiologyMolecular GeneticsGenomics	2016	237
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification	2017	193
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features Emma Tham, Anna Lindstrand, Avni Santani, The American Journal of Human Genetics Recognizable Syndromic FeaturesDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2015	140
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network Hana Zouk, Eric Venner, Niall J. Lennon, The American Journal of Human Genetics BioinformaticsFunctional GenomicsEngineeringClinical SequencingTranslational Bioinformatics	2019	114
A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia Éric Deutsch, Avni Santani, Susan Perlman, Molecular Genetics and Metabolism AllergyPathogenesisImmunologyPathologyAutoimmunity	2010	102
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis Karin Weiss, Hayley P. Lazar, Alina Kurolap, Genetics in Medicine Mendelian DisorderGenetic DisorderGeneticsGenotype–phenotype CorrelationsGenetic Epidemiology	2019	97
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features Cara Skraban, Constance Wells, Preetha Markose, The American Journal of Human Genetics Intellectual ImpairmentCorticobasal DegenerationNeurological DisorderDisabilityRecognizable Syndrome	2017	90

Page 1