Stephen W Scherer

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Towards a comprehensive structural variation map of an individual human genome

John Wei, Matthew E Hurles, Hansoo Park, 2010, Genome Biology.

Prepublication data sharing

Christopher P Austin, Rolf Apweiler, Tatsuhiko Tsunoda, 2009, Nature.

VikNGS: a C++ variant integration kit for next generation sequencing association analysis

Lisa J Strug, Stephen W Scherer, Jiafen Gong, 2020, Bioinform..

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Ryan Mills, Ji Hyeon Park, Aparna Prasad, 2011, Nature Biotechnology.

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Wendy Roberts, Juha Kere, Lars Feuk, 2006, American journal of human genetics.

Whole Genome Scanning: Resolving Clinical Diagnosis and Management Amidst Complex Data

Stephen W Scherer, Abdallah S Daar, S. Scherer, 2009, Pediatric Research.

Individualized medicine enabled by genomics in Saudi Arabia

Peter Natesan Pushparaj, Stephen W Scherer, Farid Ahmed, 2015, BMC Medical Genomics.

Nature Genetics Advance Online Publication Genetic Association Study of Qt Interval Highlights Role for Calcium Signaling Pathways in Myocardial Repolarization

Michael J Ackerman, Christian Gieger, Thomas Meitinger, 2022 .

Human Chromosome 7: DNA Sequence and Biology

Junjun Zhang, Nazneen Rahman, Alexander K. Hudek, 2003, Science.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

Xavier Estivill, Johannes-Peter Haas, Sampath Prahalad, 2016, Annals of the rheumatic diseases.

Public data archives for genomic structural variation

Michael DiCuccio, Paul Flicek, Ilkka Lappalainen, 2010, Nature Genetics.

Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome

Andy Wing Chun Pang, Lars Feuk, Stephen W Scherer, 2013, Human mutation.

Evolutionary implications of inversions that have caused intra-strand parity in DNA

John Wei, Kohji Okamura, Stephen W Scherer, 2007, BMC Genomics.

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

Jessica Brian, Wendy Roberts, Lars Feuk, 2006, American journal of medical genetics. Part A.

Cloning and characterization of human CADPS and CADPS2, new members of the Ca2+-dependent activator for secretion protein family.

Stephen W Scherer, S. Scherer, J. Vincent, 2003, Genomics.

Contribution of SHANK3 mutations to autism spectrum disorder.

Christian R Marshall, Wendy Roberts, Dalila Pinto, 2007, American journal of human genetics.

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.

Brett Trost, Egor Dolzhenko, Michael A Eberle, 2019, American journal of human genetics.

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.

Xavier Estivill, Joseph Cheung, Stephen W Scherer, 2002, Human molecular genetics.

Recent segmental and gene duplications in the mouse genome

Junjun Zhang, Michael D. Wilson, Joseph Cheung, 2003, Genome Biology.

A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder

Daniele Merico, Christian R Marshall, Stephen W Scherer, 2017, Genetics in Medicine.

Expanded Repeat in Canine Epilepsy

Catherine André, Hannes Lohi, Clare Rusbridge, 2005, Science.

Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.

Irma Järvelä, Wendy Roberts, Stephen W Scherer, 2005, Genomics.

Remarkable sequence signatures in archaeal genomes.

Stuart Lithwick, Stephen W Scherer, S. Scherer, 2003, Archaea.

Frequent appearance of novel protein-coding sequences by frameshift translation.

Arcadi Navarro, Kohji Okamura, Lars Feuk, 2006, Genomics.

Disruption at the Ptchd1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability Nih Public Access

Chi-Chung Hui, Andre Franke, Geraldine Dawson, 2010 .

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

Roland Arnold, Richard G Grundy, Daniele Merico, 2015, Nature Genetics.

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Thomas Bourgeron, Alberto Segre, Alberto Maria Segre, 2007, Nature Genetics.

MADR2 Maps to 18q21 and Encodes a TGFβ–Regulated MAD–Related Protein That Is Functionally Mutated in Colorectal Carcinoma

Irene L Andrulis, Stephen W Scherer, Steven Gallinger, 1996, Cell.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

Christian R Marshall, Rosanna Weksberg, Wendy Roberts, 2009, Journal of Medical Genetics.

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Daniele Merico, Bhooma Thiruvahindrapuram, Stephen W Scherer, 2015, Nature Communications.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Jianxin Shi, Susmita Datta, Aribert Rothenberger, 2013, Nature Genetics.

Hotspots for copy number variation in chimpanzees and humans.

Junjun Zhang, Chris Tyler-Smith, Stephen W Scherer, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

Andrei L. Turinsky, Yi-An Chen, Rosanna Weksberg, 2013, BMC Medical Genomics.

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.

Daniele Merico, Christian R Marshall, Tracy Yuen, 2013, Human molecular genetics.

Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene ( CRX ) Essential for Maintenance of the Photoreceptor

Stephen W Scherer, Cheryl Y Gregory-Evans, James Bellingham, 1997, Cell.

Sequencing of isolated sperm cells for direct haplotyping of a human genome

Christian R Marshall, Roger S Lasken, Ewen F Kirkness, 2013, Genome research.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Birgit Sikkema-Raddatz, Christian R Marshall, Stephen W Scherer, 2010, European Journal of Human Genetics.

Genetic architecture in autism spectrum disorder.

Bernie Devlin, Stephen W Scherer, S. Scherer, 2012, Current opinion in genetics & development.

Functional and chromosomal clustering of genes responsive to 5-bromodeoxyuridine in human cells

Stephen W Scherer, Michihiko Fujii, S. Scherer, 2004, Experimental Gerontology.

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

Daniele Merico, Raveen Basran, Christian R Marshall, 2017, Genetics in Medicine.

CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss

Christian R Marshall, Yair Anikster, Ariel Feiglin, 2015, Journal of child neurology.

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Daniele Merico, Pingzhao Hu, Christian R Marshall, 2014, Nature Genetics.

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

Daniele Merico, Christian R Marshall, Babak Alipanahi, 2015, G3: Genes, Genomes, Genetics.

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

Michael Brudno, Raveen Basran, Christian R Marshall, 2017, European Journal of Human Genetics.

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

Michael Brudno, Daniele Merico, Christian R Marshall, 2016, npj Genomic Medicine.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Christian R Marshall, Alexandre Reymond, Paige Kaplan, 2008, American journal of human genetics.

Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome

Uri Tabori, Christian R Marshall, Lars Feuk, 2008, Proceedings of the National Academy of Sciences.

The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript system.

Joseph Cheung, Stephen W Scherer, S. Scherer, 2002, Genomics.

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

Naoto Endo, Peter Heutink, Minoru Shibata, 2002, Proceedings of the National Academy of Sciences of the United States of America.

A high-resolution copy-number variation resource for clinical and population genetics

Pingzhao Hu, John Wei, Christian R Marshall, 2014, Genetics in Medicine.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Leslie G Biesecker, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.

Stephen W Scherer, S. Scherer, A. Bassett, 2010, The American journal of psychiatry.

Strategies for the detection of copy number and other structural variants in the human genome

Lars Feuk, Stephen W Scherer, L. Feuk, 2006, Human Genomics.

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

Daniele Merico, John Wei, Christian R Marshall, 2015, JAMA.