Stephen W Scherer

68PUBLICATIONS

720CO-AUTHORS

NeurogeneticsDevelopmental genetics (incl. sex determination)Genome structure and regulationGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)

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Publications (68)

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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

|Mar 05, 2026

Mapping the inter- and intra-genic codon-usage landscape in <i>Homo sapiens</i>.

Maahil Arshad, Matthew Uchmanowicz, Vanshika Rana

|Feb 23, 2026

Flexible and rapid validation of structural variation using adaptive sampling.

Aida Paivandy, Felix Lenner, Jesper Eisfeldt

|Dec 08, 2025

Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.

Kuldeep Kumar, Sayeh Kazem, Guillaume Huguet

|Dec 03, 2025

Determinants of pleiotropy and monotonic gene dosage responses across human traits.

Sayeh Kazem, Kuldeep Kumar, Guillaume Huguet

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Frequent Collaborators

10 joint publications

Bhooma Thiruvahindrapuram

10 joint publications

Brett Trost

Jacob Vorstman

Ryan K C Yuen

Giovanna Pellecchia

Christian R Marshall

Jeffrey R MacDonald

Anne S Bassett

Sébastien Jacquemont

Miriam S Reuter

Frequent Collaborators

10 joint publications

Bhooma Thiruvahindrapuram

10 joint publications

Brett Trost

9 joint publications

Jacob Vorstman

8 joint publications

Ryan K C Yuen