World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
50
Citations
11599
World Ranking
3913
National Ranking
1686

Overview

Lisa Edelmann is affiliated with the Icahn School of Medicine at Mount Sinai in the United States. Their research primarily focuses on the fields of Biochemistry, Genetics, and Molecular Biology, with a particular emphasis on Genetics and Molecular Biology.

The scientist's work covers numerous subfields including:

  • Genetics
  • Molecular Biology
  • Pharmacology
  • Pulmonary and Respiratory Medicine
  • Physiology

Key topics addressed in their research include:

  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • BRCA gene mutations in cancer
  • Genetics and Neurodevelopmental Disorders
  • Congenital heart defects research
  • Pharmacogenetics and Drug Metabolism
  • RNA modifications and cancer

Lisa Edelmann has contributed to several recent scientific papers, for example:

  • "Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients," 2023, published in Genetics in Medicine
  • "Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection," 2020, published in Clinical and Translational Science
  • "Characterization of Reference Materials for TPMT and NUDT15," 2022, published in Journal of Molecular Diagnostics
  • "Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects," 2020, published in American Journal of Medical Genetics Part A
  • "Detection of mosaic variants using genome sequencing in a large pediatric cohort," 2022, published in American Journal of Medical Genetics Part A

The researcher frequently publishes in the following venues:

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

Collaborations have been established with several frequent co-authors, including:

  • Ruth Kornreich
  • Neal Cody
  • Lisong Shi
  • Bryn D. Webb
  • Stuart A. Scott

Best Publications

  • The DNA sequence of human chromosome 22

    I. Dunham;N. Shimizu;B. A. Roe;S. Chissoe

  • Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

    Xonia Carvajal-Vergara;Ana Sevilla;Sunita L. Dsouza;Yen Sin Ang

  • Cellubrevin is a ubiquitous tetanus-toxin substrate homologous to a putative synaptic vesicle fusion protein

    Harvey T. McMahon;Yuri A. Ushkaryov;Lambert Edelmann;Egenhard Link

  • Synaptobrevin binding to synaptophysin: a potential mechanism for controlling the exocytotic fusion machine.

    L Edelmann;P I Hanson;E R Chapman;R Jahn

  • A Common Molecular Basis for Rearrangement Disorders on Chromosome 22q11

    Lisa Edelmann;Raj K. Pandita;Elizabeth Spiteri;Birgit Funke

  • Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

    Lisa Edelmann;Raj K. Pandita;Bernice E. Morrow

  • Tetanus toxin action: Inhibition of neurotransmitter release linked to synaptobrevin proteolysis

    Egenhard Link;Lambert Edelmann;Judy H. Chou;Thomas Binz

  • The t-SNAREs syntaxin 1 and SNAP-25 are present on organelles that participate in synaptic vesicle recycling.

    C Walch-Solimena;J Blasi;L Edelmann;E R Chapman

  • CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

    J.I. Friedman;T. Vrijenhoek;S. Markx;I.M. Janssen

  • Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

    Rong Chen;Lisong Shi;Jörg Hakenberg;Brian Naughton

  • Cdk5 Regulates the Phosphorylation of Tyrosine 1472 NR2B and the Surface Expression of NMDA Receptors

    Shuo Zhang;Lambert Edelmann;June Liu;James E. Crandall

  • AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation

    L. Edelmann;L. Edelmann;E. Spiteri;K. Koren;V. Pulijaal

  • Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in mice

    Yuxun Wang;Christopher D. Putnam;Michael F. Kane;Weijia Zhang

  • Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

    Stuart A. Scott;Lisa Edelmann;Liu Liu;Minjie Luo

  • Cellubrevin and synaptobrevins: similar subcellular localization and biochemical properties in PC12 cells.

    T J Chilcote;T Galli;O Mundigl;L Edelmann

  • Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

    Alexander Kolevzon;Benjamin Angarita;Lauren Bush;A Ting Wang

  • Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish Populations

    Stuart A. Scott;Lisa Edelmann;Ruth Kornreich;Robert J. Desnick

  • An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

    Lisa Edelmann;Aaron Prosnitz;Sherly Pardo;Jahnavi Bhatt

  • Clinical Utility of Array CGH for the Detection of Chromosomal Imbalances Associated with Mental Retardation and Multiple Congenital Anomalies

    Lisa Edelmann;Kurt Hirschhorn

  • The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

    Melissa P. Wasserstein;Michele Caggana;Sean M. Bailey;Robert J. Desnick

Frequent Co-Authors

Robert J. Desnick
Robert J. Desnick Icahn School of Medicine at Mount Sinai
Reinhard Jahn
Reinhard Jahn Max Planck Society
Bernice E. Morrow
Bernice E. Morrow Albert Einstein College of Medicine
Raj K. Pandita
Raj K. Pandita Houston Methodist
Bruce D. Gelb
Bruce D. Gelb Icahn School of Medicine at Mount Sinai
Douglas M. Ruderfer
Douglas M. Ruderfer Vanderbilt University Medical Center
Erwin P. Bottinger
Erwin P. Bottinger Hasso Plattner Institute
Joseph D. Buxbaum
Joseph D. Buxbaum Icahn School of Medicine at Mount Sinai
Eimear E. Kenny
Eimear E. Kenny Icahn School of Medicine at Mount Sinai
Judy H. Cho
Judy H. Cho Icahn School of Medicine at Mount Sinai

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Studying Genetics in the USA opens doors to various career pathways and online degree options. For those interested in health information fields, consider medical billing and coding programs. These are ideal for students who want to work in healthcare settings without a clinical role and can be completed entirely online.

If your goal is to earn your degree more quickly, look into a fast track bachelor's degree. These accelerated options let you move into the workforce or further studies in less time. Flexibility is also key for many students; choosing self paced degrees allows you to complete coursework on your own schedule, balancing studies with work or personal commitments.

For prospective students worried about application expenses, there are many online colleges with free applications. This can help lower the financial barriers to starting your genetics education. Exploring these related online options can provide valuable pathways into science, healthcare, and other dynamic fields.

Best Scientists Citing Lisa Edelmann

Trending Scientists

Recently Published Articles