World's Best Scientists 2026 revealed!

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Genetics

D-Index
94
Citations
30466
World Ranking
936
National Ranking
462

Medicine

D-Index
94
Citations
30734
World Ranking
10525
National Ranking
5416

Overview

Jill A. Rosenfeld is affiliated with Baylor College of Medicine in the United States and has an extensive publication record primarily in the field of Biochemistry, Genetics and Molecular Biology. Their work spans multiple subfields, including Molecular Biology, Genetics, Cell Biology, Cardiology and Cardiovascular Medicine, and Physiology. The scientist's research topics focus on Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Congenital heart defects research, RNA Research and Splicing, and RNA regulation and disease.

Among recent papers authored or co-authored by Jill A. Rosenfeld are:

  • Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders, 2020, Nature Communications
  • Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing, 2020, Journal of Clinical Investigation
  • Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms, 2020, Neuron
  • Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome, 2020, The Journal of Experimental Medicine
  • Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders, 2021, Genome Medicine

Jill A. Rosenfeld frequently collaborates with several other researchers, including Lindsay C. Burrage, Pengfei Liu, Daryl A. Scott, Brendan Lee, and Jennifer E. Posey. These collaborations contribute to a diverse and robust body of work in genetics and molecular biology.

The scientist has a significant presence in several publication venues, with many papers appearing in:

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

Jill A. Rosenfeld's research covers crucial areas such as genetic and neurodevelopmental disorders and the molecular mechanisms underlying disease, contributing to broader knowledge in the field of genetics and genomics. Their work also extends into RNA biology and congenital defects, supporting a multidisciplinary approach to understanding complex biological systems and diseases.

Best Publications

  • A copy number variation morbidity map of developmental delay

    Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld

  • Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

    Raphael Bernier;Christelle Golzio;Bo Xiong;Holly A. Stessman

  • Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon

  • A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

    Sébastien Jacquemont;Bradley P. Coe;Micha Hersch;Michael H. Duyzend

  • Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

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

  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

  • Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

    Michael E. Talkowski;Jill A. Rosenfeld;Ian Blumenthal;Vamsee Pillalamarri

  • Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

    Santhosh Girirajan;Jill A. Rosenfeld;Bradley P. Coe;Sumit Parikh

  • Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

    Megan Y. Dennis;Xander Nuttle;Peter H. Sudmant;Francesca Antonacci

  • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  • Estimates of penetrance for recurrent pathogenic copy-number variations.

    Jill A. Rosenfeld;Bradley P. Coe;Evan E. Eichler;Howard Cuckle

  • Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

    Angela L Duker;Blake C Ballif;Erawati V Bawle;Richard E Person

  • De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

    Jean-Baptiste Rivière;Bregje W. M. van Bon;Alexander Hoischen;Stanislav S. Kholmanskikh

  • Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.

    Lisa G. Shaffer;Jill A. Rosenfeld;Mindy P. Dabell;Justine Coppinger

  • Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

    Jan Kazenwadel;Genevieve A. Secker;Yajuan J. Liu;Jill A. Rosenfeld

  • Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

    Debra D'Angelo;Sébastien Lebon;Qixuan Chen;Sandra Martin-Brevet

  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    Laure Frésard;Craig Smail;Nicole M. Ferraro;Nicole A. Teran

  • Experience With Microarray-Based Comparative Genomic Hybridization for Prenatal Diagnosis in Over 5000 Pregnancies

    Lisa G. Shaffer;Mindy P. Dabell;Allan J. Fisher;Justine Coppinger

  • Reanalysis of Clinical Exome Sequencing Data

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

  • Corrigendum: A copy number variation morbidity map of developmental delay

    Gregory M Cooper;Bradley P Coe;Santhosh Girirajan;Jill A Rosenfeld

Frequent Co-Authors

Lisa G. Shaffer
Lisa G. Shaffer Paw Print Genetics
Christine M. Eng
Christine M. Eng Baylor College of Medicine
Fan Xia
Fan Xia Baylor College of Medicine
Seema R. Lalani
Seema R. Lalani Baylor College of Medicine
James R. Lupski
James R. Lupski Baylor College of Medicine
Jennifer E. Posey
Jennifer E. Posey Baylor College of Medicine
Brendan Lee
Brendan Lee Baylor College of Medicine
Yaping Yang
Yaping Yang AiLife Diagnostics, Inc.
Carlos A. Bacino
Carlos A. Bacino Baylor College of Medicine
Daryl A. Scott
Daryl A. Scott Baylor College of Medicine

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