Jacob Vorstman

24PUBLICATIONS

140CO-AUTHORS

NeurogeneticsDevelopmental genetics (incl. sex determination)Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Infant and child health

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Publications (24)

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|May 13, 2026

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

|Mar 27, 2026

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Jhih-Rong Lin, Daniella Miller, Dana Luong

|Dec 04, 2025

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review.

Meera Chopra, Tin-Suet Joan Lee, Jacob Vorstman

|Aug 30, 2024

Integrative genetic analysis: cornerstone of precision psychiatry.

Jacob Vorstman, Jonathan Sebat, Vincent-Raphaël Bourque

|Jul 24, 2024

Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.

Ruben C Gur, Carrie E Bearden, Sebastien Jacquemont

|Jul 05, 2024

An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure.

Jane Summers, Danielle Baribeau, Polina Perlman

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Frequent Collaborators

9 joint publications

Stephen W Scherer

7 joint publications

Carrie E Bearden

6 joint publications

Donna McDonald-McGinn

Anne S Bassett

Michael J Owen

Christian R Marshall

Ania M Fiksinski

Ann Swillen

Declan Murphy

Terrence Blaine Crowley

Frequent Collaborators

9 joint publications

Stephen W Scherer

7 joint publications

Carrie E Bearden

6 joint publications

Donna McDonald-McGinn

6 joint publications

Anne S Bassett