2026 Stephen W. Scherer: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Genetics	162	91	87	2	2	768	127513
Medicine	162	698	639	22	22	792	128019

Research.com Recognitions

2026 - Research.com Genetics in Canada Leader Award
2025 - Research.com Genetics in Canada Leader Award
2024 - Research.com Genetics in Canada Leader Award
2024 - Research.com Genetics and Molecular Biology in Canada Leader Award
2023 - Research.com Genetics in Canada Leader Award
2023 - Research.com Genetics and Molecular Biology in Canada Leader Award
2022 - Research.com Genetics and Molecular Biology in Canada Leader Award
2011 - Fellow of the American Association for the Advancement of Science (AAAS)
2006 - Fellow of the Royal Society of Canada Academy of Science

Overview

Stephen W. Scherer is affiliated with the University of Toronto in Canada. Their research primarily spans the fields of biochemistry, genetics, and molecular biology, with a significant focus on genetics and molecular biology subfields including cognitive neuroscience, cancer research, and cellular and molecular neuroscience.

Their work addresses a variety of main topics, notably genomics and rare diseases, autism spectrum disorder research, genetics and neurodevelopmental disorders, genomic variations and chromosomal abnormalities, congenital heart defects research, genetic associations and epidemiology, and RNA modifications and cancer.

Selected recent papers authored by Stephen W. Scherer include:

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism, 2022, Nature Genetics
Phase Separation as a Missing Mechanism for Interpretation of Disease Mutations, 2020, Cell
Genome-wide detection of tandem DNA repeats that are expanded in autism, 2020, Nature
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors, 2021, Biological Psychiatry
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data, 2020, Genome Biology

Frequent co-authors include Bhooma Thiruvahindrapuram, Jennifer Howe, Brett Trost, Worrawat Engchuan, and Mehdi Zarrei, reflecting collaborative work in various genetics and neurodevelopmental research areas.

The scientist frequently publishes in several venues, including bioRxiv (Cold Spring Harbor Laboratory), European Neuropsychopharmacology, Biological Psychiatry, npj Genomic Medicine, and Genetics in Medicine.

Stephen W. Scherer has been recognized as a Fellow of the American Association for the Advancement of Science (AAAS) since 2011 and a Fellow of the Royal Society of Canada, Academy of Science since 2006.

Best Publications

Global variation in copy number in the human genome

Richard Redon;Shumpei Ishikawa;Karen R. Fitch;Lars Feuk

5326
Citations
Detection of large-scale variation in the human genome.

A John Iafrate;Lars Feuk;Miguel N Rivera;Miguel N Rivera;Marc L Listewnik

3543
Citations
Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis;Xin-Xin He;Arthur P Goldberg;Christopher S. Poultney

3036
Citations
Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller;Margaret P. Adam;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker

3018
Citations
Structural variation in the human genome

Lars Feuk;Andrew R. Carson;Stephen W. Scherer

2622
Citations
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

S. Hong Lee;Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Stephen V. Faraone

2429
Citations
Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto;Alistair T. Pagnamenta;Lambertus Klei;Richard Anney

2381
Citations
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom;F. Kyle Satterstrom;Jack A. Kosmicki;Jiebiao Wang;Michael S. Breen

2295
Citations
The Diploid Genome Sequence of an Individual Human

Samuel Levy;Granger Sutton;Pauline C Ng;Lars Feuk

2236
Citations
Origins and functional impact of copy number variation in the human genome

Donald F. Conrad;Dalila Pinto;Richard Redon;Richard Redon;Lars Feuk;Lars Feuk

2236
Citations
Structural variation of chromosomes in autism spectrum disorder.

Christian R. Marshall;Abdul Noor;John B. Vincent;Anath C. Lionel

2139
Citations
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

A. Brooks-Wilson;M. Marcil;S. M. Clee;L.-H. Zhang

2109
Citations
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

Barbara E. Stranger;Matthew S. Forrest;Mark Dunning;Catherine E. Ingle

2054
Citations
Analysis of shared heritability in common disorders of the brain

Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters

1978
Citations
Germline and Somatic Mutations in the Tyrosine Kinase Domain of the MET Proto-Oncogene in Papillary Renal Carcinomas

L. Schmidt;F.-M. Duh;F. Chen;T. Kishida

1878
Citations
Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Peter Szatmari;Andrew D. Paterson;Lonnie Zwaigenbaum;Wendy Roberts

1609
Citations
The human splicing code reveals new insights into the genetic determinants of disease

Hui Y. Xiong;Babak Alipanahi;Babak Alipanahi;Leo J. Lee;Leo J. Lee;Hannes Bretschneider

1358
Citations
The Database of Genomic Variants: a curated collection of structural variation in the human genome

Jeffrey R. MacDonald;Robert Ziman;Ryan K. C. Yuen;Lars Feuk

1341
Citations
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Erich Roessler;Elena Belloni;Karin Gaudenz;Philippe Jay

1327
Citations
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein

A Brooks-Wilson;Michel Marcil;Susanne M. Clee;Lin-Hua Zhang

125
Citations

Frequent Co-Authors

Christian R. Marshall University of Toronto

Lap-Chee Tsui University of Toronto

Peter Szatmari University of Toronto

Dalila Pinto Icahn School of Medicine at Mount Sinai

Wendy Roberts University of Toronto

Bridget A. Fernandez Memorial University of Newfoundland

Daniele Merico University of Toronto

John B. Vincent Centre for Addiction and Mental Health

Rosanna Weksberg University of Toronto

Berge A. Minassian The University of Texas Southwestern Medical Center

External Links

Wikipedia of Stephen W. Scherer Personal website of Stephen W. Scherer

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

Related Online Degrees & Career Pathways

Studying Genetics in the USA can open doors to diverse and rewarding career opportunities. Many students complement their genetics background with healthcare-focused degrees, broadening their expertise and employability. With the rise of flexible education, there are now more options than ever to pursue related qualifications online.

For example, those interested in advanced nursing practice can explore online fnp programs and leadership tracks like the most affordable dnp programs. These programs prepare graduates for higher-level roles in healthcare, utilizing both genetics and clinical knowledge.

Entry-level professionals can benefit from pursuing an online nursing degree, which provides foundational skills and bridges into specialized areas. Additionally, current nurses can build on their credentials with an rn to bsn online program, enhancing their understanding of genetics in patient care.

Whether your goal is research or direct patient care, these flexible online pathways allow you to integrate genetics expertise with practical nursing skills—preparing you for a dynamic and in-demand healthcare career.