Jack M. Fu

发表

Detection of de novo copy number deletions from targeted sequencing of trios

Mary L. Marazita, Ingo Ruczinski, Jack M. Fu, 2018 .

RNA-seq transcript quantification from reduced-representation data in recount2

Leonardo Collado-Torres, Jeffrey T. Leek, Abhinav Nellore, 2018, bioRxiv.

Detection of de novo copy number deletions from targeted sequencing of trios

Ingo Ruczinski, Jack M. Fu, Elizabeth J. Leslie, 2018, bioRxiv.

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2020, bioRxiv.

Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis

Jack M. Fu, M. Talkowski, E. Robinson, 2022, JAMA pediatrics.

Prevalence and Phenotypic Impact of Rare Likely Pathogenic Variants in Autism Spectrum Disorder

Jack M. Fu, K. Roeder, L. Klei, 2020 .

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Ryan L. Collins, Jack M. Fu, Stephan J Sanders, 2022, Nature Genetics.

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Evan Z. Macosko, Jack M. Fu, Jessica B. Girault, 2022, Nature Genetics.

An open resource of structural variation for medical and population genetics

Grace Tiao, Daniel G. MacArthur, Ryan L. Collins, 2019 .

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

Ryan L. Collins, Jack M. Fu, Stephan J Sanders, 2021, medRxiv.

Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

Jack M. Fu, K. Roeder, L. Klei, 2021, Molecular Autism.

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Jack M. Fu, Joseph T. Glessner, 2021, Cell.

Author Correction: A structural variation reference for medical and population genetics

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2021, Nature.

A structural variation reference for medical and population genetics

Tariq Ahmad, Patrick F. Sullivan, Mark I. McCarthy, 2020, Nature.

A structural variation reference for medical and population genetics

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2020, Nature.

Whole exome association of rare deletions in multiplex oral cleft families

Ingo Ruczinski, Alexandre Bureau, Hasan Albacha-Hejazi, 2017, Genetic epidemiology.

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank

Ryan L. Collins, Jack M. Fu, David I. Benjamin, 2022, bioRxiv.

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.

Ryan L. Collins, Jack M. Fu, Ryan E. Mills, 2021, American journal of human genetics.

Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly

Tobias Marschall, Jan O. Korbel, Mark Walker, 2020, bioRxiv.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Jeffrey M. Weiss, Ryan L. Collins, Jack M. Fu, 2021, medRxiv.

STATISTICAL AND FUNCTIONAL CONVERGENCE OF COMMON AND RARE VARIANT RISK FOR AUTISM SPECTRUM DISORDERS AT CHROMOSOME 16P

Jack M. Fu, J. Sebat, S. Mccarroll, 2022, European Neuropsychopharmacology.

Bayesian copy number detection and association in large-scale studies

Jack M. Fu, Manal M. Hassan, G. Rosner, 2020, BMC Cancer.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Activity-Dependent Degradation of the Nascentome by the Neuronal Membrane Proteasome.

Jack M. Fu, Michael. Delannoy, S. S. Margolis, 2018, Molecular cell.

Whole exome sequencing analyses reveal gene–microbiota interactions in the context of IBD

Jack M. Fu, M. Rivas, M. Daly, 2020, Gut.

Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies.

Jack M. Fu, K. Brennand, S. Erdin, 2023, Cell genomics.

Detection of rare disease variants in extended pedigrees using RVS

Ingo Ruczinski, Alexandre Bureau, Jack M. Fu, 2018, Bioinform..

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

Jack M. Fu, M. Talkowski, F. Satterstrom, 2023, Nature Genetics.

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.

Ryan L. Collins, Jack M. Fu, Christopher W. Whelan, 2023, American journal of human genetics.

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

Ryan L. Collins, Jack M. Fu, David I. Benjamin, 2023, Nature Genetics.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Jack M. Fu, K. Garimella, A. O’Donnell-Luria, 2023, medRxiv.

Activity-Dependent Degradation of the Nascentome by the Neuronal Membrane Proteasome.

Jack M. Fu, Michael. Delannoy, S. S. Margolis, 2018, Molecular cell.