World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
80
Citations
43885
World Ranking
1551
National Ranking
723

Medicine

D-Index
80
Citations
43990
World Ranking
16871
National Ranking
8459

Overview

Suzanne M. Leal is affiliated with Columbia University Medical Center in the United States. Their research primarily focuses on Biochemistry, Genetics, and Molecular Biology, with specific emphasis on Molecular Biology, Genetics, Sensory Systems, Cell Biology, and Surgery.

Their recent publications cover a range of topics in human genetics and genomic medicine. Notable papers include:

  • "Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency" (2020, The American Journal of Human Genetics)
  • "Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm" (2021, The American Journal of Human Genetics)
  • "Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland" (2021, Human Genetics)
  • "Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies" (2020, Annals of Clinical and Translational Neurology)
  • "Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss" (2021, Genetics in Medicine)

The scientist collaborates frequently with several researchers. Their top coauthors include:

  • Isabelle Schrauwen
  • Anushree Acharya
  • Thashi Bharadwaj
  • Wasim Ahmad
  • Liz M. Nouel-Saied

Their body of work has been published extensively in various venues, predominately in:

  • Genes
  • European Journal of Human Genetics
  • UNC Libraries
  • The American Journal of Human Genetics
  • Clinical Genetics

Main research topics explored include:

  • Hearing, Cochlea, Tinnitus, Genetics
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Congenital heart defects research
  • RNA regulation and disease
  • Genetic Associations and Epidemiology

Suzanne M. Leal's work involves investigating genetic bases of sensory and developmental disorders as well as complex genetic conditions such as thoracic aortic aneurysm. The breadth of their research spans molecular mechanisms and clinical genetic interpretations across various human diseases and conditions.

Best Publications

  • A haplotype map of the human genome

    John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol

  • A second generation human haplotype map of over 3.1 million SNPs

    Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds

  • Genome-wide detection and characterization of positive selection in human populations

    Pardis C. Sabeti;Pardis C. Sabeti;Patrick Varilly;Patrick Varilly;Ben Fry;Jason Lohmueller

  • Missing heritability and strategies for finding the underlying causes of complex disease

    Evan E. Eichler;Jonathan Flint;Greg Gibson;Augustine Kong

  • Evolution and functional impact of rare coding variation from deep sequencing of human exomes

    Jacob A. Tennessen;Abigail W. Bigham;Timothy D. O'Connor;Wenqing Fu

  • Methods for Detecting Associations with Rare Variants for Common Diseases : Application to Analysis of Sequence Data

    Bingshan Li;Suzanne M. Leal

  • Guidelines for investigating causality of sequence variants in human disease

    D G MacArthur;T A Manolio;D P Dimmock;H L Rehm

  • Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity : possible implications for opiate addiction

    Cherie Bond;K. Steven LaForge;Mingting Tian;Dorothy Melia

  • Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

    Wenqing Fu;Timothy D. O’Connor;Goo Jun;Hyun Min Kang

  • Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene

    Rossella Medori;Hans Juergen Tritschler;Andréa Leblanc;Federico Villare

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

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

  • Excess of rare, inherited truncating mutations in autism.

    Niklas Krumm;Tychele N. Turner;Carl Baker;Laura Vives

  • Discovery of common and rare genetic risk variants for colorectal cancer

    Jeroen R. Huyghe;Stephanie A. Bien;Tabitha A. Harrison;Hyun Min Kang

  • Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

    P. J. Ferguson;S. Chen;M. K. Tayeh;L. Ochoa

  • 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

  • TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

    Catherine Boileau;Dong Chuan Guo;Nadine Hanna;Ellen S. Regalado

  • Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity.

    Srikanth Nagalla;Chad Shaw;Chad Shaw;Xianguo Kong;Altaf A. Kondkar

  • Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

    Vladimir Vacic;Vladimir Vacic;Shane McCarthy;Dheeraj Malhotra;Dheeraj Malhotra;Fiona Murray

  • Genetics and Analysis of Quantitative Traits

    Suzanne M. Leal

  • Discovery of common and rare genetic risk variants for colorectal cancer

    Jeroen R. Huyghe;Stephanie A. Bien;Tabitha A. Harrison;Hyun Min Kang

Frequent Co-Authors

Wasim Ahmad
Wasim Ahmad Quaid-i-Azam University
Deborah A. Nickerson
Deborah A. Nickerson University of Washington
Michael J. Bamshad
Michael J. Bamshad University of Washington
Dianna M. Milewicz
Dianna M. Milewicz The University of Texas Health Science Center at Houston
Jay Shendure
Jay Shendure University of Washington
Saima Riazuddin
Saima Riazuddin University of Maryland, Baltimore
Joshua D. Smith
Joshua D. Smith University of Washington
Zubair M. Ahmed
Zubair M. Ahmed University of Maryland, Baltimore
Jurg Ott
Jurg Ott Rockefeller University
John W. Belmont
John W. Belmont Baylor College of Medicine

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 can open the door to a wide spectrum of healthcare and research careers. Many students choose to expand their skills and boost their career prospects with additional online degrees. For those with a nursing background, upgrading to a bachelor’s degree is now more accessible—explore options such as the online rn to bsn no clinicals programs, which allow registered nurses to earn their BSN without in-person clinical hours.

If you are interested in advancing directly from a BSN to a doctoral level, consider enrolling in the fastest bsn to dnp program options available online. For those seeking entry-level opportunities, you can become a medical assistant in a matter of weeks by enrolling in an accelerated cma program.

Many students also consider the dnp degree to further specialize and enhance their qualifications. All of these programs can complement a genetics background, expanding your career options in healthcare, research, and related fields.

Best Scientists Citing Suzanne M. Leal

Trending Scientists

Recently Published Articles