G. Cooper

发表

Mapping and sequencing of structural variation from eight human genomes

Joshua M. Korn, Nancy F. Hansen, D. Altshuler, 2008, Nature.

Systematic assessment of copy number variant detection via genome-wide SNP genotyping

E. Eichler, D. Nickerson, J. Kidd, 2008, Nature Genetics.

Mutational and selective effects on copy-number variants in the human genome

E. Eichler, D. Nickerson, G. Cooper, 2007, Nature Genetics.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

William Stafford Noble, Nancy R. Zhang, Stephen C. J. Parker, 2007, Nature.

Access the most recent version at doi: 10.1101/gr.926603 References

Chuong B. Do, Michael F. Kim, S. Batzoglou, 2003 .

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

M. Rieder, L. Peltonen, D. Altshuler, 2008, Nature Genetics.

A general framework for estimating the relative pathogenicity of human genetic variants

J. Shendure, B. O’Roak, D. Witten, 2014, Nature Genetics.

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome.

Colin N. Dewey, Richard A. Moore, James B. Brown, 2007, Genome research.

Distribution and intensity of constraint in mammalian genomic sequence.

S. Batzoglou, A. Sidow, G. Cooper, 2005, Genome research.

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Lisa M. D'Souza, Colin N. Dewey, Martin S. Taylor, 2004, Nature.

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

J. Shendure, G. Cooper, 2011, Nature Reviews Genetics.

The ENCODE (ENCyclopedia Of DNA Elements) Project

Paul T. Groth, William Stafford Noble, Colin N. Dewey, 2004, Science.

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Emily H Turner, M. Rieder, J. Shendure, 2010, Nature Genetics.

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity

Michael T. McManus, Beth K. Martin, J. Shendure, 2016, bioRxiv.

Characterization of evolutionary rates and constraints in three Mammalian genomes.

S. Batzoglou, A. Sidow, M. Brudno, 2004, Genome research.

Quantitative estimates of sequence divergence for comparative analyses of mammalian genomes.

S. Batzoglou, A. Sidow, M. Brudno, 2003, Genome research.

Supplemental Information Distinct Properties of Cell-Type-Specific and Shared Transcription Factor Binding Sites

Timothy E. Reddy, R. Myers, G. Cooper, 2013 .

Distinct properties of cell-type-specific and shared transcription factor binding sites.

Timothy E. Reddy, R. Myers, G. Cooper, 2013, Molecular cell.

Genome-wide strand asymmetry in massively parallel reporter activity favors genic strands

Brian S. Roberts, J. Shendure, R. Myers, 2020, bioRxiv.

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.

Serafim Batzoglou, Richard M Myers, Arend Sidow, 2010, Genome research.

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Monte Westerfield, Wendy S. Rubinstein, Gregory M. Cooper, 2017, Cell.

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

Dolores Corella, Olle Melander, Thomas Hedner, 2008, Nature Genetics.

A general framework for estimating the relative pathogenicity of human genetic variants

Gregory M. Cooper, Jay Shendure, Martin Kircher, 2014 .

The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child’s Best Possible Life

R. Myers, G. Barsh, G. Cooper, 2021, AJOB empirical bioethics.

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

A. Singleton, C. Baker, E. Eichler, 2008, Science.

A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.

M. Rieder, Joshua D. Smith, G. Cooper, 2008, Blood.

Massively parallel functional dissection of mammalian enhancers in vivo

Joseph B Hiatt, J. Shendure, J. Hiatt, 2012, Nature Biotechnology.

Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.

M. Rieder, A. Reiner, D. Nickerson, 2008, American journal of human genetics.

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

Dona M. Kanavy, Shannon M. McNulty, Tamara S. Roman, 2020, American journal of human genetics.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Brittany N. Lasseigne, W. Chung, D. Goldstein, 2015, Science.

Genomic sequencing identifies secondary findings in a cohort of parent study participants

R. Myers, G. Barsh, G. Cooper, 2017, Genetics in Medicine.

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Avni Santani, Steven Joffe, Michael J Bamshad, 2015, Genome research.

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Joshua L. Deignan, W. Chung, N. Spinner, 2016, Genetics in Medicine.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Nikhil Wagle, Peter Tarczy-Hornoch, Richard M Myers, 2016, American journal of human genetics.

Qualifying the relationship between sequence conservation and molecular function.

Christopher D. Brown, G. Cooper, 2008, Genome research.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

Identification, Replication, and Functional Fine-Mapping of Expression Quantitative Trait Loci in Primary Human Liver Tissue

Christopher D. Brown, Gregory M. Cooper, Deborah A. Nickerson, 2011, PLoS genetics.

Genomic regulatory regions: insights from comparative sequence analysis.

Arend Sidow, Gregory M Cooper, A. Sidow, 2003, Current opinion in genetics & development.

A Copy Number Variation Morbidity Map of Developmental Delay

Gregory M. Cooper, Carl Baker, Evan E. Eichler, 2011, Nature Genetics.

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

I. Scheffer, L. Lagae, G. Cooper, 2020, Epilepsia.

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

G. Cooper, K. Bowling, G. Rubboli, 2016, Neurology: Genetics.

Long-read genome sequencing for the diagnosis of neurodevelopmental disorders

G. Cooper, J. Grimwood, J. Schmutz, 2020, bioRxiv.

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Matthew S. Lebo, Aleksandar Milosavljevic, Heidi L Rehm, 2016, American journal of human genetics.

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Michael F. Wangler, R. Pfundt, G. Cooper, 2018, Human Genetics.

Non-Coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.

Brittany N. Lasseigne, R. Myers, B. Miller, 2020, American journal of human genetics.

A genome-wide interactome of DNA-associated proteins in the human liver

Andrew A. Hardigan, R. Myers, G. Cooper, 2017, bioRxiv.

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

J. Rosenfeld, R. Pfundt, E. Eichler, 2020, Human mutation.

high-throughput sequenced genomes Combinatorial algorithms for structural variation detection in Material Supplemental

H. Mefford, E. Eichler, C. Alkan, 2009 .

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans (Nature Genetics (2008) 40, (189-197))

M. Rieder, L. Peltonen, D. Altshuler, 2008 .

Characterizing reduced coverage regions through comparison of exome and genome sequencing data across ten centers

Mahdi Sarmady, Rashesh V. Sanghvi, Christian J. Buhay, 2017, Genetics in Medicine.

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

Yaping Yang, Katrina A B Goddard, Kathryn M Porter, 2018, Molecular genetics & genomic medicine.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Robert C. Green, Michael O. Dorschner, Matthew S. Lebo, 2016 .

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation

G. Cooper, B. Korf, D. Standaert, 2019, Neurology.

CADD: predicting the deleteriousness of variants throughout the human genome

Gregory M. Cooper, Philipp Rentzsch, Daniela Witten, 2018, Nucleic Acids Res..

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

G. Cooper, B. Korf, K. Bowling, 2022, Genome Medicine.

Corrigendum: A copy number variation morbidity map of developmental delay

B. Coe, J. Rosenfeld, C. Baker, 2014, Nature Genetics.

Alignment of Genomic DNA LAGAN and Multi-LAGAN : Efficient Tools for Large-Scale Multiple

Michael Brudno, Serafim Batzoglou, Gregory M. Cooper, 2003 .

Non-Coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases

Alzheimer's Disease Neuroimaging Initiative, Brittany N. Lasseigne, R. Myers, 2019, bioRxiv.

How secondary findings are made

G. Cooper, K. Bowling, M. Thompson, 2020 .

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Gao T. Wang, G. Abecasis, J. Shendure, 2017, Scientific Reports.

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

G. Carvill, I. Scheffer, H. Mefford, 2018, American journal of human genetics.

Trade-offs in detecting evolutionarily constrained sequence by comparative genomics.

Arend Sidow, Gregory M Cooper, A. Sidow, 2005, Annual review of genomics and human genetics.

Automated whole-genome multiple alignment of rat, mouse, and human.

Inna Dubchak, Michael Brudno, Serafim Batzoglou, 2004, Genome research.

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

G. Cooper, M. Williamson, A. McNeill, 2017, PLoS Genetics.

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.

Deborah A Nickerson, Gregory M Cooper, Carl Baker, 2009, Genome research.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Yu Wang, Zhaoshi Jiang, Gregory M. Cooper, 2008, Nature Genetics.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

H. Mefford, E. Eichler, R. Regan, 2008, Journal of Medical Genetics.

Targeted interrogation of copy number variation using SCIMMkit

Gregory M. Cooper, Deborah A. Nickerson, Evan E. Eichler, 2009, Bioinform..

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

G. Cooper, P. Fergelot, K. Devriendt, 2020, European Journal of Human Genetics.

Guidelines for investigating causality of sequence variants in human disease

D. G. MacArthur, T. A. Manolio, D. P. Dimmock, 2014, Nature.

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

Deborah L. Levy, Gregory M. Cooper, Brian L. Browning, 2010, Nature Genetics.

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

Serafim Batzoglou, Gregory M. Cooper, Arend Sidow, 2010, PLoS Comput. Biol..

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Joshua L. Deignan, T. Bourgeron, R. Delorme, 2019, American journal of human genetics.

Population analysis of large copy number variants and hotspots of human genetic disease.

Richard M Myers, Deborah A Nickerson, Jun Li, 2009, American journal of human genetics.

Corrigendum: A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

Michael T. McManus, Beth K. Martin, J. Shendure, 2018, Genome research.

Systematic reanalysis of genomic data improves quality of variant interpretation

R. Myers, G. Barsh, G. Cooper, 2018, Clinical genetics.

Specifying and Sustaining Pigmentation Patterns in Domestic and Wild Cats

J. Mullikin, G. Barsh, S. O’Brien, 2012, Science.

Closing gaps in the human genome with fosmid resources generated from multiple individuals

E. Eichler, N. Sampas, Douglas R. Smith, 2008, Nature Genetics.

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

Jay Shendure, Arend Sidow, Michael J Bamshad, 2010, Nature Methods.

Accelerated exon evolution within primate segmental duplications

E. Eichler, L. Vives, T. Marquès-Bonet, 2013, Genome Biology.

Discovery and Validation of Circulating Biomarkers of Colorectal Adenoma by High-Depth Small RNA Sequencing

Brian S. Roberts, R. Myers, G. Cooper, 2018, Clinical Cancer Research.

Analyses of Mammalian Genomes Quantitative Estimates of Sequence Divergence for Comparative Material Supplemental

S. Batzoglou, A. Sidow, M. Brudno, 2003 .

Clinical utility of genomic sequencing.

G. Cooper, K. Bowling, M. Neu, 2019, Current opinion in pediatrics.

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

H. Mefford, E. Eichler, D. Pinkel, 2007, American journal of human genetics.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

S. Scherer, N. Brown, R. Yuen, 2019, Brain : a journal of neurology.

Genomic diagnosis for children with intellectual disability and/or developmental delay

G. Barsh, G. Cooper, K. Bowling, 2017, Genome Medicine.

Genomic diagnosis for children with intellectual disability and/or developmental delay

R. Myers, G. Barsh, G. Cooper, 2016, bioRxiv.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Genome sequencing for early-onset dementia: high diagnostic yield and frequent observation of multiple contributory alleles

Brittany N. Lasseigne, R. Myers, G. Cooper, 2019, bioRxiv.

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

N. Risch, P. Kwok, S. Fullerton, 2018, American journal of human genetics.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

W. Chung, J. Lupski, R. Myers, 2017, American journal of human genetics.

Mapping genome-wide transcription factor binding sites in frozen tissues

Richard M Myers, Gregory M Cooper, Preti Jain, 2013, Epigenetics & Chromatin.

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

B. V. van Bon, R. Pfundt, G. Cooper, 2019, American journal of human genetics.

Genome sequencing as a first-line diagnostic test for hospitalized newborns

G. Barsh, G. Cooper, S. Knight, 2021, medRxiv.

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders

G. Cooper, J. Grimwood, J. Schmutz, 2021, HGG advances.

Eliciting Preferences on Secondary Findings: The Preferences Instrument for Genomic Secondary Results (PIGSR)

R. Myers, G. Barsh, E. Clayton, 2016, Genetics in Medicine.

Identifying rare, medically-relevant genetic variation in a diverse population: opportunities and pitfalls

D. Absher, G. Barsh, G. Cooper, 2020, bioRxiv.

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles

Brittany N. Lasseigne, R. Myers, G. Cooper, 2019, Cold Spring Harbor molecular case studies.

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

W. Chung, J. Lupski, R. Myers, 2016, bioRxiv.

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018, Neuron.

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

G. Cooper, K. Bowling, E. Kenny, 2023, bioRxiv.

Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3

Anne, Fassi, Joshua L. Deignan, 2019 .

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

R. Pfundt, H. Mefford, D. Goldstein, 2018, Annals of neurology.

Mutations in MAST 1 Caus e Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Graphical

Martin W. Breuss, A. Reymond, A. Pagnamenta, 2018 .

Genome sequencing as a first-line diagnostic test for hospitalized infants.

G. Barsh, G. Cooper, B. Korf, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy

R. Myers, G. Barsh, G. Cooper, 2021, PLoS genetics.

Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls

D. Absher, G. Barsh, G. Cooper, 2020, Genetics in Medicine.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

N. Guex, N. Brown, W. Chung, 2021, American journal of human genetics.

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

N. Guex, N. Brown, W. Chung, 2019, bioRxiv.

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Richard M Myers, Gregory M Cooper, Susan M Hiatt, 2018, bioRxiv.

A state-based approach to genomics for rare disease and population screening

G. Barsh, J. Cimino, G. Cooper, 2020, Genetics in Medicine.

Aberrant regulation of a poison exon caused by a non-coding variant in Scn1a-associated epileptic encephalopathy

R. Myers, G. Barsh, G. Cooper, 2020, bioRxiv.

Promoter-distal RNA polymerase II binding discriminates active from inactive CCAAT/ enhancer-binding protein beta binding sites

Richard M Myers, Gregory M Cooper, Brian S. Roberts, 2015, Genome research.

Functional constraint and small insertions and deletions in the ENCODE regions of the human genome

David J Balding, Gregory M Cooper, Taane G Clark, 2007, Genome Biology.

ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

J. Shendure, D. Nickerson, Martin Kircher, 2016, Human mutation.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Detection of copy number variation using SNP genotyping.

H. Mefford, G. Cooper, 2011, Methods in molecular biology.

Mammalian Comparative Sequence Analysis of the Agrp Locus

A. Sidow, G. Barsh, G. Cooper, 2007, PloS one.

Mammalian Comparative Sequence Analysis of the Agrp

A. Sidow, G. Barsh, G. Cooper, 2007 .

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

G. Cooper, M. Farrer, I. Guella, 2016, Neurology: Genetics.

Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia

Kevin M Bowling, Gregory M Cooper, G. Cooper, 2018, Cold Spring Harbor molecular case studies.

Genomic sequencing identifies secondary findings in a cohort of parent study participants

R. Myers, G. Barsh, G. Cooper, 2017, bioRxiv.

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

G. Cooper, B. Korf, Chenbei Chang, 2019, Front. Physiol..

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Matthew S. Lebo, Victoria A. Miller, Jeffrey W. Pennington, 2016, American journal of human genetics.

PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility

Mark I. McCarthy, Gregory M. Cooper, Scott M. Williams, 2015, PLoS genetics.

Extensive profiling of transcription factors in postmortem brains defines genomic occupancy in disease-relevant cell types and links TF activities to neuropsychiatric disorders

G. Cooper, W. Bunney, B. Bunney, 2023, bioRxiv.

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Antonarakis, Noskova, Meadows, 2022, medRxiv.

Evaluating the strength of genetic results: Risks and responsibilities

Scott M. Williams, Hua Tang, G. Barsh, 2019, PLoS genetics.

ABC: software for interactive browsing of genomic multiple sequence alignment data

Gregory M. Cooper, Arend Sidow, Senthil A. G. Singaravelu, 2004, BMC Bioinformatics.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

A. Singleton, E. Eichler, J. Sebat, 2008, Science.

Systematic assessment of copy-number variant detection via genome-wide single nucleotide polymorphism genotyping

E. Eichler, D. Nickerson, J. Kidd, 2009 .

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

G. Barsh, G. Cooper, B. Korf, 2020, Neurology: Genetics.

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Joseph S. Salama, W. Chung, I. Krantz, 2016, American journal of human genetics.

Qualifying the relationship between sequence conservation and molecular function.

Christopher D. Brown, G. Cooper, 2008, Genome research.