Hongzheng Dai

发表

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, C. Shaw, J. Lupski, 2020, Genetics in Medicine.

Application of Next-Generation Sequencing in Noonan Spectrum Disorders

L. Wong, P. Magoulas, Jinglan Zhang, 2017 .

GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis

J. Hunter, Dana Marafi, F. Scaglia, 2019, Neurology: Genetics.

Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits

C. Shaw, J. Lupski, Yaping Yang, 2022, Genome Medicine.

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

J. Rosenfeld, K. Schoch, J. Phillips, 2022, Human mutation.

Molecular and clinical spectra of FBXL4 deficiency

W. Chan, H. Prokisch, F. Alkuraya, 2017, Human mutation.

L. Wong, M. Almannai, Hongzheng Dai, 1993 .

The mycobacterium tuberculosis small heat shock protein Hsp16.3 exposes hydrophobic surfaces at mild conditions: Conformational flexibility and molecular chaperone activity

Changxue Zheng, Z. Chang, Y. Gong, 2008, Protein science : a publication of the Protein Society.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

J. Lupski, R. Gibbs, E. Boerwinkle, 2020, JBMR plus.

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.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

A. Breman, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Sequencing individual genomes with recurrent deletions reveals allelic architecture and disease loci for autosomal recessive traits

Nurit Assia Batzir, C. Shaw, J. Lupski, 2021, medRxiv.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

David R. Murdock, J. Rosenfeld, B. Lambrecht, 2020, The Journal of experimental medicine.

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

Yaping Yang, F. Xia, M. Leduc, 2021, Molecular genetics & genomic medicine.

M. Gambello, Henry C. Lin, Julia Wang, 2018, Human mutation.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Fan Xia, Pengfei Liu, Xiaoyan Ge, 2017, JAMA pediatrics.

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.

O. Lichtarge, A. Mahmoud, Panagiotis Katsonis, 2018, Molecular genetics and metabolism.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

R. Gibbs, D. Muzny, Yaping Yang, 2018, Genome Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

David R. Murdock, Vicente A. Yépez, J. Rosenfeld, 2020, The Journal of clinical investigation.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Reanalysis of Clinical Exome Sequencing Data.

J. Rosenfeld, E. Zackai, C. Shaw, 2019, The New England journal of medicine.

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

David R. Murdock, Alyssa A. Tran, J. Rosenfeld, 2022, American journal of medical genetics. Part A.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

David R. Murdock, J. Rosenfeld, R. Lewis, 2022, American Journal of Medical Genetics. Part A.

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Yanming Feng, Fan Xia, Shashikant Kulkarni, 2019, Nature Medicine.

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

David R. Murdock, Lauren S Blieden, J. Rosenfeld, 2021, American journal of medical genetics. Part A.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

R. Gibbs, D. Muzny, Yaping Yang, 2018, Genome Medicine.

Two Novel Pathogenic Variants of TJP2 Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients

L. Luo, Xiaofen Ma, Shengmei Zhou, 2021, Frontiers in Cell and Developmental Biology.

A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.

Yanming Feng, Victor Wei Zhang, Lee-Jun C Wong, 2015, The Journal of molecular diagnostics : JMD.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, American journal of human genetics.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

J. Rosenfeld, S. Lalani, V. Chau, 2021, Clinical genetics.

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

David R. Murdock, J. Rosenfeld, T. Schedl, 2022, Proceedings of the National Academy of Sciences.

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Mahshid S. Azamian, S. Lalani, T. Ogata, 2021, Frontiers in Cell and Developmental Biology.

KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine

H. Lerche, U. Hedrich, E. Cooper, 2023, Annals of clinical and translational neurology.

Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome

R. Gibbs, D. Muzny, S. Plon, 2022, Cancer Genetics.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes

M. Bekheirnia, R. Nishinakamura, F. Hildebrandt, 2023, Frontiers in Medicine.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Evaluation of an Automated Genome Interpretation Model for Rare Disease Routinely Used in a Clinical Genetic Lab.

F. Xia, C. Eng, Ido Machol, 2023, Genetics in Medicine.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene.

K. Choy, Z. Dong, K. Kwok, 2023, Prenatal diagnosis.

Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report

S. Lalani, C. Bacino, L. Rossetti, 2020, American journal of medical genetics. Part A.

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

P. Stankiewicz, Ankita Patel, C. Shaw, 2019, Genome Medicine.

Anovel de novo intronic variant in ITPR1 causes Gillespie syndrome

David R. Murdock, Lauren S Blieden, J. Rosenfeld, 2021 .

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

A. Dolphin, I. Zhulin, M. Ruzhnikov, 2022, Brain : a journal of neurology.

Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.

J. Rosenfeld, J. Lupski, S. Lalani, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.