W. Charng

发表

Large-scale identification of chemically induced mutations in Drosophila melanogaster

Nele A. Haelterman, Lichun Jiang, H. Bellen, 2014, Genome research.

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Eric Boerwinkle, William B. Dobyns, Tomasz Gambin, 2014, Cell.

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit

Hugo J. Bellen, Hector Sandoval, H. Bellen, 2013, The Journal of cell biology.

Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

D. Conrad, P. Sears, L. Ostrowski, 2020, PLoS genetics.

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

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

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.

Drosophila Tempura, a Novel Protein Prenyltransferase α Subunit, Regulates Notch Signaling Via Rab1 and Rab11

H. Bellen, V. Bayat, H. Sandoval, 2014, PLoS biology.

Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production

Ke Zhang, H. Bellen, V. Bayat, 2014, eLife.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Michael F. Wangler, Q. K. Tan, R. Pfundt, 2021, American journal of human genetics.

The Retromer Complex Is Required for Rhodopsin Recycling and Its Loss Leads to Photoreceptor Degeneration

H. Bellen, V. Bayat, H. Sandoval, 2014, PLoS biology.

Diagnostic yield of exome sequencing in congenital vertical talus.

W. Charng, P. Dickson, M. Dobbs, 2022, European journal of medical genetics.

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

D. Conrad, P. Sears, L. Ostrowski, 2019, Journal of Human Genetics.

Diverse monogenic subforms of human spermatogenic failure

M. J. Xavier, D. Conrad, J. Veltman, 2022, Nature Communications.

Title: Diverse Monogenic Subforms of Human Spermatogenic Failure

M. J. Xavier, D. Conrad, W. Charng, 2022 .

WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes.

H. Bellen, H. Sandoval, Ke Zhang, 2016, Developmental cell.

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.

J. Lupski, R. Gibbs, D. Muzny, 2015, The Journal of clinical endocrinology and metabolism.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

J. Lupski, R. Gibbs, E. Boerwinkle, 2016, The Journal of clinical investigation.

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.

Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2020, American journal of medical genetics. Part A.

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.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

J. Rosenfeld, W. Chung, J. Lupski, 2016, American journal of human genetics.

A Mutation in EGF Repeat-8 of Notch Discriminates Between Serrate/Jagged and Delta Family Ligands

Hao Wang, H. Bellen, V. Bayat, 2012, Science.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Mahshid S. Azamian, Magalie S Leduc, J. Rosenfeld, 2015, American journal of human genetics.

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

J. Rosenfeld, J. Lupski, R. Gibbs, 2017, Nature Genetics.

Endocytosis and intracellular trafficking of Notch and its ligands.

H. Bellen, W. Charng, Shinya Yamamoto, 2010, Current topics in developmental biology.

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.

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.

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.

Crag Is a GEF for Rab11 Required for Rhodopsin Trafficking and Maintenance of Adult Photoreceptor Cells

H. Bellen, V. Bayat, H. Sandoval, 2012, PLoS biology.

Correction: The Retromer Complex Is Required for Rhodopsin Recycling and Its Loss Leads to Photoreceptor Degeneration

H. Bellen, V. Bayat, H. Sandoval, 2015, PLoS biology.

Human genome meeting 2016

Kumar Kshitij Patel, A. Pang, W. Chung, 2016, Human Genomics.

Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases

H. Bellen, W. Charng, Shinya Yamamoto, 2014, Current Opinion in Neurobiology.

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.

Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion

W. Charng, J. Hecht, M. Dobbs, 2021, Clinical orthopaedics and related research.

Human genome meeting 2016

A. Pang, W. Chung, J. Lupski, 2016, Human Genomics.

Human genome meeting 2016

Kumar Kshitij Patel, Jose Maria Gonzalez-Izarzugaza, A. Pang, 2016, Human Genomics.

Identification of Genetic Variants in CFAP221 as a Cause of Primary Ciliary Dyskinesia

D. Conrad, P. Sears, L. Ostrowski, 2019, Journal of Human Genetics.

Mutation of CFAP57 causes primary ciliary dyskinesia by disrupting the asymmetric targeting of a subset of ciliary inner dynein arms

D. Conrad, P. Sears, L. Ostrowski, 2019, bioRxiv.