Shen Gu

发表

Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genetics in Medicine.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

C. Shaw, J. Lupski, R. Gibbs, 2016, Nucleic acids research.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Ivan K. Chinn, Eric A. Smith, J. Lupski, 2017, The Journal of allergy and clinical immunology.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

N. Guex, A. Reymond, C. Shaw, 2016, Genome Medicine.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Donna M. Martin, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

A giant ankyrin-B mechanism for neuro-diversity/divergence through stochastic ectopic axon projections

W. Wetsel, H. Yin, A. Badea, 2018 .

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

J. Lupski, R. Gibbs, S. Jhangiani, 2022, HGG advances.

Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions

A. Breman, I. B. Van den Veyver, Shen Gu, 2018, Prenatal diagnosis.

A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders

S. Tsui, Lin Li, Shen Gu, 2022, NPJ genomic medicine.

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

J. Lupski, P. Liu, T. Harel, 2016, Human Genetics.

Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

Q. K. Tan, J. Rosenfeld, K. Flanigan, 2019, Human mutation.

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics

N. Guex, A. Reymond, C. Shaw, 2016, Genome Medicine.

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, The Journal of clinical investigation.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

J. Lupski, R. Gibbs, E. Boerwinkle, 2019, American journal of human genetics.

Genetic architecture of laterality defects revealed by whole exome sequencing

Alexander Hanbo Li, Mahshid S. Azamian, J. Lupski, 2019, European Journal of Human Genetics.

Global transcriptional disturbances underlie

Khalid Al Rubeaan, J. Lupski, R. Gibbs, 2018 .

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, Genome Medicine.

Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

J. Lupski, R. Gibbs, D. Muzny, 2015, Molecular genetics & genomic medicine.

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Michael F. Wangler, J. Lupski, D. Krainc, 2021, Annals of neurology.

Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

C. Shaw, J. Lupski, J. Jankovic, 2020, Neurology: Genetics.

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

J. Lupski, K. Woodward, Vahid Bahrambeigi, 2019, Genome Medicine.

Integrated Sequencing & Array Comparative Genomic Hybridization in Familial Parkinson’s Disease

C. Shaw, J. Lupski, J. Jankovic, 2019 .

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

P. Stankiewicz, A. Breman, Ankita Patel, 2019, Genome Medicine.

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

J. Sebat, D. Malhotra, S. McCarthy, 2018, Human mutation.

Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

P. Stankiewicz, A. Breman, C. Shaw, 2018, Genome research.

Mechanisms for Complex Chromosomal Insertions

P. Stankiewicz, A. Breman, P. Szafranski, 2016, PLoS genetics.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

P. Stankiewicz, Ankita Patel, C. Shaw, 2015, Human molecular genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

Mechanisms for the Generation of Two Quadruplications Associated with Split‐Hand Malformation

J. Lupski, C. Pickering, J. Posey, 2016, Human mutation.

Whole-Exome Sequencing in Familial Parkinson Disease.

J. Lupski, R. Gibbs, R. Myers, 2016, JAMA neurology.

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

J. Sebat, D. Malhotra, S. McCarthy, 2017, Stem cell reports.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

J. Lupski, S. Cheung, A. Munnich, 2015, American journal of human genetics.

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

J. Rosenfeld, J. Lupski, R. Gibbs, 2016, BMC Medical Genomics.