World's Best Scientists 2026 revealed!
Rosanna Weksberg

Rosanna Weksberg

D-Index & Metrics

Genetics

D-Index
87
Citations
28773
World Ranking
1209
National Ranking
40

Medicine

D-Index
88
Citations
29869
World Ranking
13117
National Ranking
537

Overview

Rosanna Weksberg is affiliated with the University of Toronto in Canada. Their research encompasses a broad range of topics within biochemistry, genetics, and molecular biology, with additional contributions to the field of medicine.

The primary fields of study for Weksberg include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these areas, their subfields of focus are:

  • Genetics
  • Molecular Biology
  • Pediatrics, Perinatology and Child Health
  • Surgery
  • Pulmonary and Respiratory Medicine

Weksberg's work explores multiple main topics, especially in genetic syndromes and molecular mechanisms, including:

  • Epigenetics and DNA Methylation
  • Genomics and Rare Diseases
  • Genetic Syndromes and Imprinting
  • Genetics and Neurodevelopmental Disorders
  • Genomic variations and chromosomal abnormalities
  • Prenatal Screening and Diagnostics
  • Cancer-related gene regulation

Their recent notable papers include:

  • "Genomic architecture of autism from comprehensive whole-genome sequence annotation" (2022), published in Cell
  • "De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism" (2020), published in The American Journal of Human Genetics
  • "DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes" (2020), published in The American Journal of Human Genetics
  • "Imprinting disorders" (2023), published in Nature Reviews Disease Primers
  • "Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome" (2021), published in American Journal of Medical Genetics Part A

Weksberg frequently publishes in the following venues:

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

The scientist's frequent coauthors include:

  • Sanaa Choufani
  • Cheryl Cytrynbaum
  • Zain Awamleh
  • Sarah J. Goodman
  • Jack Brzezinski

Best Publications

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

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

  • Structural variation of chromosomes in autism spectrum disorder.

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

  • Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray

    Yi-an Chen;Mathieu Lemire;Sanaa Choufani;Darci T. Butcher

  • Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

    Ryan K C Yuen;Daniele Merico;Matt Bookman;Jennifer L. Howe

  • De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui

  • Beckwith|[ndash]|Wiedemann syndrome

    Rosanna Weksberg;Cheryl Shuman;J Bruce Beckwith

  • Whole-genome sequencing of quartet families with autism spectrum disorder

    Ryan K C Yuen;Bhooma Thiruvahindrapuram;Daniele Merico;Susan Walker

  • Clinical Features of 78 Adults With 22q11 Deletion Syndrome

    Anne S. Bassett;Eva W.C. Chow;Eva W.C. Chow;Janice Husted;Janice Husted;Rosanna Weksberg

  • Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

    Anath C Lionel;Gregory Costain;Nasim Monfared;Susan Walker

  • Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

    Leslie G. Biesecker;Rudolf Happle;John B. Mulliken;Rosanna Weksberg

  • Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.

    Rosanna Weksberg;Ding Ren Shen;Yan Ling Fei;Qian Li Song

  • A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.

    Nancy J. Smilinich;Colleen D. Day;Galina V. Fitzpatrick;Germaine M. Caldwell

  • Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

    Kristiina Tammimies;Kristiina Tammimies;Christian R. Marshall;Susan Walker;Gaganjot Kaur

  • The schizophrenia phenotype in 22q11 deletion syndrome

    Anne S. Bassett;Eva W.C. Chow;Philip AbdelMalik;Mirona Gheorghiu

  • Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

    Dimitri J. Stavropoulos;Daniele Merico;Rebekah Jobling;Sarah Bowdin

  • Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome

    Rosanna Weksberg;Cheryl Shuman;Oana Caluseriu;Adam C. Smith

  • SHANK1 Deletions in Males with Autism Spectrum Disorder

    Daisuke Sato;Anath C. Lionel;Anath C. Lionel;Claire S. Leblond;Claire S. Leblond;Claire S. Leblond;Aparna Prasad

  • Unbalanced placental expression of imprinted genes in human intrauterine growth restriction.

    J. McMinn;M. Wei;N. Schupf;J. Cusmai

  • Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

    Cornelius F. Boerkoel;Hiroshi Takashima;Joy John;Jiong Yan

  • Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development

    Rosanna Weksberg;Adam C Smith;Jeremy Squire;Paul Sadowski

Frequent Co-Authors

Stephen W. Scherer
Stephen W. Scherer University of Toronto
David Chitayat
David Chitayat University of Toronto
Anne S. Bassett
Anne S. Bassett University of Toronto
Jeremy A. Squire
Jeremy A. Squire Universidade de São Paulo
Christian R. Marshall
Christian R. Marshall University of Toronto
Michael Brudno
Michael Brudno University of Toronto
Peter N. Ray
Peter N. Ray University of Toronto
Peter Szatmari
Peter Szatmari University of Toronto
Wendy Roberts
Wendy Roberts University of Toronto
Bridget A. Fernandez
Bridget A. Fernandez Memorial University of Newfoundland

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