Kaitlin E. Samocha - Concepedia

Author

Kaitlin E. Samocha

Also Known As

Andrea Saltzman, Arthur P. Goldberg, Calero, Miguel, Caroline F. Wright, Danish Saleheen, FinnGen, Hall, Janet E., Heidi L. Rehm, Jakob Grove, Josh Smith

129

Publications

45.2K

Citations

H-Index

Concepts

All Affiliations

Massachusetts General Hospital Broad Institute Harvard University Icahn School of Medicine at Mount Sinai Wellcome Sanger Institute

About

Kaitlin E. Samocha is an author at Massachusetts General Hospital specializing in medicine, genetics, and genomics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	30	34	23.6K
2	Public Health	13	14	5K
3	Social Sciences	3	3	476
4	Engineering	2	2	1.2K
5	Natural Sciences	2	2	1.2K

Kaitlin E. Samocha

Publications

36.6K

Citations

H-Index

Page 1

	Year	Citations
Analysis of protein-coding genetic variation in 60,706 humans Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel, Nature Phenotypic VariationProtein-coding Genetic VariationGeneticsHuman PolymorphismGenomics	2016	10.1K
The mutational constraint spectrum quantified from variation in 141,456 humans Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Nature	2020	9.6K
Patterns and rates of exonic de novo mutations in autism spectrum disorders Benjamin M. Neale, Yan Kou, Li Liu, Nature Neurodevelopmental DisordersAutism Spectrum DisordersSyndromic AutismGeneticsGenetic Disorder	2012	1.8K
The mutational constraint spectrum quantified from variation in 141,456 humans Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, GeneticsGenomicsClinical GeneticsHuman PhenotypesHuman Variation	2019	1.8K
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci Stephan Sanders, Xin He, A. Jeremy Willsey, Neuron Genome-wide Association StudySyndromic AutismGeneticsRisk LociMolecular Biology	2015	1.5K
High-throughput discovery of novel developmental phenotypes Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Nature Genetic AnalysisHigh-throughput DiscoveryFunctional GenomicsDevelopmental BiologyGenetics	2016	1.3K
A genomic mutational constraint map using variation in 76,156 human genomes Siwei Chen, Laurent C. Francioli, Julia K. Goodrich, Nature MedicineGeneticsEvolutionary BiologyNatural SciencesGenome Analysis	2023	1.1K
A framework for the interpretation of de novo mutation in human disease Kaitlin E. Samocha, Elise Robinson, Stephan Sanders, Nature Genetics Somatic VariantGenetic DisorderMedicineGeneticsHuman Disease	2014	1.1K
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies Jason Homsy, Samir Zaidi, Yufeng Shen, Science	2015	859
The ExAC browser: displaying reference data information from over 60 000 exomes Konrad J. Karczewski, Ben Weisburd, Brett Thomas, Nucleic Acids Research EngineeringGeneticsInteractive Data ExplorationGenetic EpidemiologyData Exploration	2016	797

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