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Genetics

D-Index
73
Citations
22780
World Ranking
2029
National Ranking
928

Overview

Shalini N. Jhangiani is affiliated with Baylor College of Medicine in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, with additional focus on Medicine. Within these areas, their work covers key subfields including Molecular Biology, Genetics, Immunology, Cancer Research, and Cell Biology.

The scientist's main research topics include:

  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Cancer Genomics and Diagnostics
  • RNA Research and Splicing
  • RNA modifications and cancer
  • Immunodeficiency and Autoimmune Disorders

Recent significant papers authored or co-authored by Shalini N. Jhangiani include the following:

  • HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease, 2020, Science
  • High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population, 2021, The American Journal of Human Genetics
  • 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
  • Human NK cell deficiency as a result of biallelic mutations in MCM10, 2020, Journal of Clinical Investigation

The frequent co-authors collaborating with Jhangiani include:

  • James R. Lupski
  • Jennifer E. Posey
  • Richard A. Gibbs
  • Zeynep Coban-Akdemir
  • Haowei Du

Notable publication venues for Shalini N. Jhangiani encompass:

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

Best Publications

  • Comprehensive genomic characterization defines human glioblastoma genes and core pathways

    Roger McLendon;Allan Friedman;Darrell Bigner;Erwin G. Van Meir

  • Somatic mutations affect key pathways in lung adenocarcinoma

    Li Ding;Gad Getz;David A. Wheeler;Elaine R. Mardis

  • The Drosophila melanogaster Genetic Reference Panel

    Trudy F. C. Mackay;Stephen J. Richards;Eric A. Stone;Antonio Barbadilla

  • The genome of the model beetle and pest Tribolium castaneum.

    Stephen Richards;Richard A. Gibbs;George M. Weinstock;Susan J. Brown

  • Evolutionary and biomedical insights from the rhesus macaque genome

    Richard A. Gibbs;Jeffrey Rogers

  • The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution

    Christine G. Elsik;Christine G. Elsik;Christine G. Elsik;Ross L. Tellam;Kim C. Worley;Kim C. Worley;Richard A. Gibbs

  • The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    Jessica X. Chong;Kati J. Buckingham;Shalini N. Jhangiani;Corinne Boehm

  • The sheep genome illuminates biology of the rumen and lipid metabolism

    Yu Jiang;Yu Jiang;Yu Jiang;Min Xie;Wenbin Chen;Richard Talbot

  • Epistasis dominates the genetic architecture of Drosophila quantitative traits.

    Wen Huang;Stephen Richards;Mary Anna Carbone;Dianhui Zhu

  • A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

    Shinya Yamamoto;Manish Jaiswal;Wu Lin Charng;Tomasz Gambin

  • COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

    Levi B. Watkin;Birthe Jessen;Wojciech Wiszniewski;Timothy J. Vece

  • Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species

    S. L. Pearce;D. F. Clarke;D. F. Clarke;P. D. East;S. Elfekih

  • The common marmoset genome provides insight into primate biology and evolution

    Kim C. Worley;Wesley C. Warren;Jeffrey Rogers;Devin Locke

  • The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima

    Ariel D Chipman;David E. K. Ferrier;Carlo Brena;Jiaxin Qu

  • Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    Ender Karaca;Tamar Harel;Davut Pehlivan;Shalini N. Jhangiani

  • Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

    Ghayda M. Mirzaa;Ghayda M. Mirzaa;Catarina D. Campbell;Nadia Solovieff;Carleton P. Goold

  • Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

    Asbjørg Stray-Pedersen;Hanne Sørmo Sorte;Pubudu Samarakoon;Tomasz Gambin;Tomasz Gambin

  • Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

    Claudia Gonzaga-Jauregui;Claudia Gonzaga-Jauregui;Tamar Harel;Tomasz Gambin;Maria Kousi

  • Hemichordate genomes and deuterostome origins

    Oleg Simakov;Takeshi Kawashima;Ferdinand Marlétaz;Jerry Jenkins

  • Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

    G McMichael;M N Bainbridge;E Haan;E Haan;M Corbett

Frequent Co-Authors

James R. Lupski
James R. Lupski Baylor College of Medicine
Richard A. Gibbs
Richard A. Gibbs Baylor College of Medicine
Donna M. Muzny
Donna M. Muzny Baylor College of Medicine
Eric Boerwinkle
Eric Boerwinkle The University of Texas Health Science Center at Houston
Tomasz Gambin
Tomasz Gambin Warsaw University of Technology
Jennifer E. Posey
Jennifer E. Posey Baylor College of Medicine
Jordan S. Orange
Jordan S. Orange University of Pennsylvania
V. Reid Sutton
V. Reid Sutton Baylor College of Medicine
Zeynep Coban-Akdemir
Zeynep Coban-Akdemir The University of Texas Health Science Center at Houston
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine

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