2026 Jennifer E. Posey: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Genetics	46	4171	3937	1795	1683	231	7448

Overview

Jennifer E. Posey is affiliated with Columbia University in the United States and has contributed extensively to research in the fields of biochemistry, genetics, and molecular biology. Their work spans multiple subfields including genetics, molecular biology, cell biology, cellular and molecular neuroscience, and immunology.

The scientist's publication record encompasses a range of topics related to genomics and rare diseases, genomic variations and chromosomal abnormalities, genetics and neurodevelopmental disorders, RNA modifications and cancer, congenital heart defects research, RNA research and splicing, and neurogenetic and muscular disorders research.

Their recent notable papers include:

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population (2021), The American Journal of Human Genetics
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease (2020), Nature Communications
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome (2021), The American Journal of Human Genetics
Centers for Mendelian Genomics: A decade of facilitating gene discovery (2022), Genetics in Medicine
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021), Genetics in Medicine

Frequent co-authors collaborating with Jennifer E. Posey include:

James R. Lupski
Shalini N. Jhangiani
Zeynep Coban-Akdemir
Davut Pehli̇van
Richard A. Gibbs

Posey has a consistent record of publishing in several scientific journals, with frequent contributions to:

Genetics in Medicine
The American Journal of Human Genetics
bioRxiv (Cold Spring Harbor Laboratory)
American Journal of Medical Genetics Part A
Genetics in Medicine Open

Their scholarly efforts primarily focus on understanding the genetic and molecular bases of rare diseases and developmental disorders, with an emphasis on identifying pathogenic genetic variations and exploring the genetic factors underlying neurodevelopmental and neuromuscular conditions. The integration of genomic data in clinical genetics and the study of transcription factor disruptions linked to behavioral and intellectual disabilities are also notable aspects of their research.

Best Publications

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Jennifer E. Posey;Tamar Harel;Pengfei Liu;Jill A. Rosenfeld

660
Citations
Reanalysis of Clinical Exome Sequencing Data

Pengfei Liu;Linyan Meng;Elizabeth A. Normand;Fan Xia

245
Citations
Molecular diagnostic experience of whole-exome sequencing in adult patients

Jennifer E. Posey;Jill A. Rosenfeld;Regis A. James;Matthew Bainbridge

218
Citations
Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery;Mohammad K. Eldomery;Zeynep Coban-Akdemir;Tamar Harel;Jill A. Rosenfeld

217
Citations
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Julia Wang;Rami Al-Ouran;Yanhui Hu;Seon-Young Kim

189
Citations
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

Michael F. Wangler;Shinya Yamamoto;Hsiao-Tuan Chao;Hsiao-Tuan Chao;Jennifer E. Posey

182
Citations
Insights into genetics, human biology and disease gleaned from family based genomic studies.

Jennifer E. Posey;Anne H. O’Donnell-Luria;Anne H. O’Donnell-Luria;Anne H. O’Donnell-Luria;Jessica X. Chong;Tamar Harel

177
Citations
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Tamar Harel;Wan Hee Yoon;Caterina Garone;Shen Gu

174
Citations
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel B. Ramoni;Rachel B. Ramoni;John J. Mulvihill;David R. Adams;Patrick Allard

160
Citations
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

Hsiao-Tuan Chao;Hsiao-Tuan Chao;Mariska Davids;Elizabeth Burke;John G. Pappas

113
Citations
Phenotypic expansion illuminates multilocus pathogenic variation.

Ender Karaca;Jennifer E Posey;Zeynep Coban Akdemir;Davut Pehlivan

112
Citations
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Wu Lin Charng;Wu Lin Charng;Ender Karaca;Ender Karaca;Zeynep Coban Akdemir;Zeynep Coban Akdemir;Tomasz Gambin;Tomasz Gambin

106
Citations
POGZ truncating alleles cause syndromic intellectual disability.

Janson White;Christine R. Beck;Tamar Harel;Jennifer E. Posey

104
Citations
IRF2BPL Is Associated with Neurological Phenotypes.

Paul C. Marcogliese;Vandana Shashi;Rebecca C. Spillmann;Nicholas Stong

92
Citations
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Bret L. Bostwick;Scott McLean;Jennifer E. Posey;Haley E. Streff

91
Citations
Genome sequencing and implications for rare disorders

Jennifer E. Posey

85
Citations
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Davut Pehlivan;Yavuz Bayram;Yavuz Bayram;Nilay Gunes;Zeynep Coban Akdemir

83
Citations
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel;Claudia Schob;Sébastien Küry;Margot R.F. Reijnders

81
Citations
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Hanyin Cheng;Avinash V. Dharmadhikari;Sylvia Varland;Ning Ma

78
Citations
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi;Loren D M Pena;Katherine Kim;Barbara Burton

76
Citations

Frequent Co-Authors

James R. Lupski Baylor College of Medicine

Richard A. Gibbs Baylor College of Medicine

Jill A. Rosenfeld Baylor College of Medicine

Shalini N. Jhangiani Baylor College of Medicine

Donna M. Muzny Baylor College of Medicine

Christine M. Eng Baylor College of Medicine

Eric Boerwinkle The University of Texas Health Science Center at Houston

Michael F. Wangler Baylor College of Medicine

Seema R. Lalani Baylor College of Medicine

Fan Xia Baylor College of Medicine

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