Scherer, Stephen W.
University of Toronto
H-index: 157
North America-Canada
Top articles of Scherer, Stephen W.
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy | EBioMedicine | Aleksandra Mitina Mahreen Khan Robert Lesurf Yue Yin Worrawat Engchuan | 2024/2/26 |
Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder | Genes, Brain and Behavior | Dita Mušálková Anna Přistoupilová Ivana Jedličková Hana Hartmannová Helena Trešlová | 2024/2 |
Disruption of the autism-associated gene SCN2A alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neurons | Frontiers in Cellular Neuroscience | Chad O Brown Jarryll A Uy Nadeem Murtaza Elyse Rosa Alexandria Alfonso | 2024/1/16 |
Population structure and history of North Atlantic Blue whales (Balaenoptera musculus musculus) inferred from whole genome sequence analysis | Conservation Genetics | Sushma Jossey Oliver Haddrath Livia Loureiro Jason T Weir Burton K Lim | 2024/1/6 |
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders | Frontiers in Molecular Neuroscience | Michele Iacomino Nadia Houerbi Sara Fortuna Jennifer Howe Shan Li | 2024/4/8 |
Molecular testing in autism spectrum disorder | Bridget A Fernandez Christian R Marshall Jacob AS Vorstman Stephen W Scherer | 2024/1/1 | |
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy | Nature Genetics | Darcy L Fehlings Mehdi Zarrei Worrawat Engchuan Neal Sondheimer Bhooma Thiruvahindrapuram | 2024/3/29 |
The Phenotypic variability of 16p11. 2 distal BP2–BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples | Journal of Medical Genetics | Marc Woodbury-Smith Lia D’Abate Dimitri J Stavropoulos Jennifer Howe Irene Drmic | 2023/12/1 |
A second update on mapping the human genetic architecture of COVID-19 | Nature | Masahiro Kanai Shea J Andrews Mattia Cordioli Christine Stevens Benjamin M Neale | 2023/9/7 |
Neurocognitive Profiles of 22q11. 2 and 16p11. 2 Deletions and Duplications | Ruben Gur Carrie Bearden Sébastien Jacquemont Khadije Jizi Marianne van den Bree | 2023/12/29 | |
Gene copy number variation and pediatric mental health/neurodevelopment in a general population | Human Molecular Genetics | Mehdi Zarrei Christie L Burton Worrawat Engchuan Edward J Higginbotham John Wei | 2023/8/1 |
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature | American Journal of Medical Genetics Part A | Alanna Strong Soumya Rao Sandra von Hardenberg Dong Li Liza L Cox | 2023/5 |
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations | Nature Cancer | Anita Villani Scott Davidson Nisha Kanwar Winnie W Lo Yisu Li | 2023/2 |
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder | The American Journal of Human Genetics | Dmitrijs Rots Taryn E Jakub Crystal Keung Adam Jackson Siddharth Banka | 2023/6/1 |
Combining Off‐flow, a Nextflow‐coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs | Computational and Structural Biotechnology Journal | Carole Shum Sang Yeon Han Bhooma Thiruvahindrapuram Zhuozhi Wang Jill de Rijke | 2024/12/1 |
Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant | Genes | Silas Yip Kristina Calli Ying Qiao Brett Trost Stephen W Scherer | 2023/11/24 |
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort … | The Lancet Neurology | Alissa M D'Gama Sarah Mulhern Beth R Sheidley Fadil Boodhoo Sarah Buts | 2023/9/1 |
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome | Human Molecular Genetics | Zain Awamleh Sanaa Choufani Cheryl Cytrynbaum Fowzan S Alkuraya Stephen Scherer | 2023/5/1 |
Decreased left heart flow in fetal lambs causes left heart hypoplasia and pro-fibrotic tissue remodeling | Communications Biology | Miriam S Reuter Dustin J Sokolowski J Javier Diaz-Mejia Johannes Keunen Barbra de Vrijer | 2023/7/22 |
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing | Human genetics | Qiliang Ding Cherith Somerville Roozbeh Manshaei Brett Trost Miriam S Reuter | 2023/2 |
Co-Authors
