Stephen W. Scherer

发表

Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

S. Scherer, A. C. Lionel, C. Marshall, 2009, Cytogenetic and Genome Research.

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

C. Marshall, A. Beggs, G. Costain, 2023, medRxiv.

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

P. Visscher, J. Sebat, D. Malhotra, 2016, Nature Genetics.

GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.

Janice M. Fullerton, Philip D. Harvey, I. Giegling, 2023, The American journal of psychiatry.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

C. Cytrynbaum, C. Marshall, A. Noor, 2015, Clinical genetics.

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

S. Scherer, C. Marshall, T. Paton, 2017, npj Genomic Medicine.

A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

M. Peters, J. V. van Meurs, D. Pinto, 2013, Journal of Medical Genetics.

Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan

L. Feuk, A. Noor, M. Amin-ud-din, 2010, Clinical genetics.

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

E. Zeggini, I. Tachmazidou, R. Duerr, 2015, Proceedings of the National Academy of Sciences.

Common Genetic Variation and Age of Onset of Anorexia Nervosa

I. Giegling, S. Djurovic, R. Ophoff, 2023 .

A second update on mapping the human genetic architecture of COVID-19

M. A. Hakim Newton, Jack D. Sanders, Jonathan H. Morgan, 2022, Nature.

SINGLE CELL DERIVED CLONAL ANALYSIS OF HUMAN GLIOBLASTOMA LINKS FUNCTIONAL AND GENOMIC HETEROGENEITY

Gary D Bader, S. Scherer, A. C. Lionel, 2014, Neuro-Oncology.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

Daniele Merico, Marc Fiume, John Wei, 2018, Canadian Medical Association Journal.