World's Best Scientists 2026 revealed!

D-Index & Metrics

Biology and Biochemistry

D-Index
55
Citations
15978
World Ranking
14811
National Ranking
6196

Overview

Birgit Funke is affiliated with Harvard University in the United States and has contributed extensively to research in biochemistry, genetics, and molecular biology, with significant focus on medicine.

The main fields of study represented in their work include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Their research spans several subfields such as:

  • Genetics
  • Cardiology and Cardiovascular Medicine
  • Molecular Biology
  • Cancer Research
  • Developmental Neuroscience

The main topics covered by their publications are:

  • Genomics and Rare Diseases
  • Cardiomyopathy and Myosin Studies
  • Genomic variations and chromosomal abnormalities
  • Cancer Genomics and Diagnostics
  • Genetic Associations and Epidemiology
  • BRCA gene mutations in cancer
  • Congenital heart defects research

Birgit Funke has published articles in several venues, most frequently in:

  • Journal of Molecular Diagnostics
  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Circulation
  • Genetics in Medicine Open

Some of their recent papers include:

  • Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy, 2020, Circulation
  • Frequency of genomic secondary findings among 21,915 eMERGE network participants, 2020, Genetics in Medicine
  • Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies, 2021, Genetics in Medicine
  • The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings, 2023, The American Journal of Human Genetics
  • Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG), 2023, Genetics in Medicine

Collaborations have been a notable aspect of their research, with frequent coauthors including:

  • James S. Ware
  • Megan Hawley
  • Kate Thomson
  • Paul J.R. Barton
  • Stuart A. Cook

Best Publications

  • TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome

    Sandra Merscher;Birgit Funke;Jonathan A. Epstein;Joerg Heyer

  • ACMG clinical laboratory standards for next-generation sequencing.

    Heidi L. Rehm;Sherri J. Bale;Pinar Bayrak-Toydemir;Jonathan S. Berg

  • Genetic Misdiagnoses and the Potential for Health Disparities

    Arjun K. Manrai;Birgit H. Funke;Heidi L. Rehm;Morten S. Olesen

  • Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

    Roddy Walsh;Kate L. Thomson;James S. Ware;James S. Ware;Birgit H. Funke

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

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

  • Assuring the quality of next-generation sequencing in clinical laboratory practice

    Amy S Gargis;Lisa Kalman;Meredith W Berry;David P Bick

  • Best practices for benchmarking germline small-variant calls in human genomes.

    Peter Krusche;Len Trigg;Paul C Boutros;Christopher E Mason

  • Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging

    Michelle Olive;Ingrid Harten;Richard Mitchell;Jeanette K. Beers

  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

    Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  • Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

    Ahmed A. Alfares;Ahmed A. Alfares;Melissa A. Kelly;Gregory McDermott;Birgit H. Funke;Birgit H. Funke;Birgit H. Funke

  • Using high-resolution variant frequencies to empower clinical genome interpretation

    Nicola Whiffin;Nicola Whiffin;Eric Minikel;Eric Minikel;Roddy Walsh;Roddy Walsh;Anne H O’Donnell-Luria;Anne H O’Donnell-Luria

  • Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

    Melissa A Kelly;Colleen Caleshu;Ana Morales;Jillian Buchan

  • The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

    Trevor J. Pugh;Melissa A. Kelly;Sivakumar Gowrisankar;Elizabeth Hynes

  • College of American pathologists' laboratory standards for next-generation sequencing clinical tests

    Nazneen Aziz;Qin Zhao;Lynn Bry;Denise K. Driscoll

  • Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

    Jodie Ingles;Jodie Ingles;Jennifer Goldstein;Courtney Thaxton;Colleen Caleshu

  • Inherited Cardiomyopathies Molecular Genetics and Clinical Genetic Testing in the Postgenomic Era

    Polakit Teekakirikul;Polakit Teekakirikul;Melissa A. Kelly;Heidi L. Rehm;Heidi L. Rehm;Neal K. Lakdawala

  • Genetic variation in DTNBP1 influences general cognitive ability

    Katherine E. Burdick;Todd Lencz;Birgit Funke;Christine T. Finn

  • Association of the DTNBP1 locus with schizophrenia in a U.S. population.

    Birgit Funke;Christine T. Finn;Alex M. Plocik;Stephen Lake

  • Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.

    Diana Mandelker;Diana Mandelker;Ryan J. Schmidt;Arunkanth Ankala;Kristin McDonald Gibson;Kristin McDonald Gibson

  • Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

    Roddy Walsh;Roddy Walsh;Rachel Buchan;Rachel Buchan;Alicja Wilk;Alicja Wilk;Shibu John;Shibu John

Frequent Co-Authors

Heidi L. Rehm
Heidi L. Rehm Brigham and Women's Hospital
Raju Kucherlapati
Raju Kucherlapati Harvard University
Bernice E. Morrow
Bernice E. Morrow Albert Einstein College of Medicine
Christine E. Seidman
Christine E. Seidman Harvard University
Stuart A. Cook
Stuart A. Cook Duke NUS Graduate Medical School
Paul J.R. Barton
Paul J.R. Barton Imperial College London
Anil K. Malhotra
Anil K. Malhotra Hofstra University
Raj K. Pandita
Raj K. Pandita Houston Methodist
Ray E. Hershberger
Ray E. Hershberger The Ohio State University
Hugh Watkins
Hugh Watkins University of Oxford

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