Hsiao-Tuan Chao

发表

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Michael F. Wangler, N. Perrimon, Zhandong Liu, 2017, American journal of human genetics.

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Michael F. Wangler, J. Postlethwait, M. Westerfield, 2017, Genetics.

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2021, bioRxiv.

Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of MECP2 Duplication Syndrome

H. Zoghbi, S. Smirnakis, S. A. Baker, 2013, The Journal of Neuroscience.

Binding of the complexin N terminus to the SNARE complex potentiates synaptic-vesicle fusogenicity

J. Rizo, Christian Rosenmund, Hsiao-Tuan Chao, 2010, Nature Structural &Molecular Biology.

Huda Yahya Zoghbi

Hsiao-Tuan Chao, 2021, Child Neurology.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

Mahshid S. Azamian, Alyssa A. Tran, J. Rosenfeld, 2022, American journal of medical genetics. Part A.

An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain

Michael F. Wangler, V. Narayanan, E. Valente, 2022, Annals of neurology.

The yin and yang of MeCP2 phosphorylation

H. Zoghbi, H. Zoghbi, Hsiao-Tuan Chao, 2009, Proceedings of the National Academy of Sciences.

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.

P. Grant, N. Brunetti‐Pierri, D. Calame, 2022, American journal of human genetics.

F. Alkuraya, H. Bellen, G. Demmler-Harrison, 2022, Annals of clinical and translational neurology.

GABAergic dysfunction mediates autism-like stereotypies and Rett syndrome phenotypes

Rodney C. Samaco, H. Zoghbi, M. Ekker, 2010, Nature.

MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number

Christian Rosenmund, Huda Y. Zoghbi, Hsiao-Tuan Chao, 2007, Neuron.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Michael F. Wangler, J. Rosenfeld, H. Bellen, 2017, American journal of human genetics.

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.

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.

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

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.

Michael F. Wangler, Shinya Yamamoto, Samantha L. Deal, 2019, Journal of visualized experiments : JoVE.

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.

Rodney C. Samaco, H. Zoghbi, J. Greer, 2008, Human molecular genetics.

Math1 Is Essential for the Development of Hindbrain Neurons Critical for Perinatal Breathing

H. Zoghbi, J. Greer, Hsiao-Tuan Chao, 2009, Neuron.

Identification of novel candidate disease genes from de novo exonic copy number variants

Lisa T. Emrick, J. Rosenfeld, P. Stankiewicz, 2017, Genome Medicine.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Michael F. Wangler, Nele A. Haelterman, Jill A. Madden, 2022, Cell reports.

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.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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

Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

H. Zoghbi, J. Swann, Jianrong Tang, 2020, eLife.

Stxbp1/Munc18-1 haploinsufficiency in mice recapitulates key features of STXBP1 encephalopathy and impairs cortical inhibition

H. Zoghbi, J. Swann, Jianrong Tang, 2019, bioRxiv.

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.

Acute Disseminated Encephalomyelitis with Spinal Cord Presentation

Hsiao-Tuan Chao, T. Lotze, Kimberly M. Houck, 2017 .

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

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.

Integrated phenotypic and genotypic approach defines EBF3-related genotype-phenotype relationships

Michael F. Wangler, V. Narayanan, E. Valente, 2020, medRxiv.

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.

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

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

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

Clinical and molecular characterization of de novo loss of function variants in HNRNPU

Magalie S Leduc, Yaping Yang, J. Beuten, 2017, American journal of medical genetics. Part A.

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Mercedes E. Alejandro, Alyssa A. Tran, J. Rosenfeld, 2019, bioRxiv.

Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress

Huda Y. Zoghbi, Hsiao-Tuan Chao, Laurence H. Tecott, 2008, Neuron.

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

Rodney C. Samaco, C. Thaller, H. Zoghbi, 2009, Proceedings of the National Academy of Sciences.

D. Calame, Hsiao-Tuan Chao, D. Takács, 2020, Neurology: Genetics.

MeCP2: only 100% will do

H. Zoghbi, Hsiao-Tuan Chao, 2012, Nature Neuroscience.

J. Rosenfeld, I. Krantz, M. Bainbridge, 2019, Genetics in Medicine.

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.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

Alyssa A. Tran, Undiagnosed Diseases Network, J. Rosenfeld, 2023, medRxiv.

Investigation of Synapse Formation and Function in a Glutamatergic-GABAergic Two-Neuron Microcircuit

Christian Rosenmund, Hsiao-Tuan Chao, T. Trimbuch, 2014, The Journal of Neuroscience.

Building dialogues between clinical and biomedical research through cross-species collaborations.

H. Bellen, Hsiao-Tuan Chao, L. Liu, 2017, Seminars in cell & developmental biology.

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.

Distinct domains of Complexin I differentially regulate neurotransmitter release

Nils Brose, Christian Rosenmund, Mingshan Xue, 2007, Nature Structural &Molecular Biology.

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.

Neurobiology of Disease Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of MECP 2 Duplication Syndrome

H. Zoghbi, S. Smirnakis, S. A. Baker, 2013 .

Identification of novel candidate disease genes from de novo exonic copy number variants

J. Rosenfeld, P. Stankiewicz, A. Breman, 2017, Genome Medicine.

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature

Lisa T. Emrick, Alyssa A. Tran, J. Rosenfeld, 2018, American journal of medical genetics. Part A.

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.

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.

PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature

J. Swann, W. Craigen, Hsiao-Tuan Chao, 2023, American journal of medical genetics. Part A.

Etiology of a genetically complex seizure disorder in Celf4 mutant mice

Jacy L. Wagnon, C. Mahaffey, W. Frankel, 2011, Genes, brain, and behavior.

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.

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

Michael F. Wangler, N. Perrimon, Yanhui Hu, 2017, American journal of human genetics.

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

G. Carvill, H. Mefford, S. Berkovic, 2023, medRxiv.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Michael F. Wangler, J. Rosenfeld, H. Bellen, 2017, American Journal of Human Genetics.

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.

Rodney C. Samaco, H. Zoghbi, J. Greer, 2008, Human molecular genetics.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Matthew H. Brush, Gabor T. Marth, John Arul Phillips, 2019, American journal of human genetics.

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.

S. Lalani, Hsiao-Tuan Chao, C. Bacino, 2024, American journal of human genetics.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.