A. Huang

发表

Copy Number Variation in Neuropsychiatric Disorders

A. Huang, Alden Huang, 2018 .

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates

C. Sabatti, N. Freimer, R. Ophoff, 2018, bioRxiv.

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

Jeffrey D. Mandell, Michael F. Walker, Stephan J Sanders, 2017, Neuron.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Neil H. Parker, Jeremy D. Woods, Undiagnosed Diseases Network, 2019, Genetics in Medicine.

Analysis of shared heritability in common disorders of the brain

Nick C Fox, Dan J Stein, Janice M. Fullerton, 2018, Science.

Synaptic processes and immune-related pathways implicated in Tourette syndrome

N. Freimer, M. Nöthen, B. Leventhal, 2020, Translational Psychiatry.

Synaptic processes and immune-related pathways implicated in Tourette syndrome

N. Freimer, M. Nöthen, B. Leventhal, 2020, Translational Psychiatry.

Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder

D. Geschwind, C. Bearden, G. Coppola, 2015, PloS one.

PAPA-1 Is a nuclear binding partner of IGFBP-2 and modulates its growth-promoting actions.

H. Ariga, P. Cohen, J. Pintar, 2009, Molecular endocrinology.

Genetic and functional analysis of a Pacific hagfish opioid system

G. Coppola, C. Cahill, A. Huang, 2020, Journal of neuroscience research.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

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

Profiling of Peripheral Blood in Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder.

D. Geschwind, C. Bearden, M. Jalbrzikowski, 2015 .

Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab.

S. Nelson, M. Butte, A. Huang, 2020, The New England journal of medicine.

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome

S. Nelson, V. Kimonis, P. Sanchez-Lara, 2021, Journal of Medical Genetics.

Genome wide meta-analysis identifies genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

Hunna J. Watson, Ryan L. Collins, Dan J Stein, 2019, bioRxiv.

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 Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Jeffrey D. Mandell, Stephan J Sanders, N. Freimer, 2018, Cell reports.

University of Groningen De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis Tourette

Jeffrey D. Mandell, J. Buxbaum, P. Paschou, 2018 .

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.

Michelle K. Lupton, D. Geschwind, J. Haines, 2012, Human molecular genetics.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

D. Geschwind, P. Mazzoni, P. Svenningsson, 2013, neurogenetics.

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies.

H. Stefánsson, N. Freimer, R. Ophoff, 2019, The American journal of psychiatry.

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

Douglas W. Woods, Jae Hoon Sul, Michael S. Okun, 2016, Neuron.

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.

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

M. Daly, H. Stefánsson, R. Ophoff, 2022, Translational Psychiatry.

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia

D. Geschwind, G. Coppola, S. Perlman, 2012, Movement disorders : official journal of the Movement Disorder Society.

Placebo Effect Characteristics Observed in a Single, International, Longitudinal Study in Huntington’s Disease

D. Geschwind, G. Coppola, S. Perlman, 2012 .

Elevated Common Variant Genetic Risk for Tourette Syndrome in a Densely Affected Pedigree

Michael Okun, H. Stefánsson, R. Ophoff, 2021, Molecular Psychiatry.

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.

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing

Ellen F. Macnamara, Rebecca C. Spillmann, S. Nelson, 2019, bioRxiv.

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.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Neil H. Parker, Jeremy D. Woods, S. Nelson, 2019, Genetics in Medicine.

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.

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.

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

M. Bamshad, P. Byers, A. Stergachis, 2023, bioRxiv.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

Activity-Dependent Regulation of Alternative Cleavage and Polyadenylation During Hippocampal Long-Term Potentiation

Giovanni Coppola, Bin Tian, Alden Huang, 2017, Scientific Reports.

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases

Ashley R. Jones, D. Geschwind, C. Lewis, 2018, Molecular Neurodegeneration.

Familial cortical myoclonus with a mutation in NOL3

D. Geschwind, B. Merriman, G. Coppola, 2012, Annals of neurology.

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

Jeffrey D. Mandell, Stephan J Sanders, N. Freimer, 2018, Cell reports.

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.

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

A. Toga, L. Petrucelli, J. Trojanowski, 2020, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

H. Stefánsson, B. Leventhal, W. McMahon, 2023, Biological Psychiatry.

A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy.

D. Geschwind, C. DeCarli, C. Cotman, 2015, JAMA neurology.

Genetic screen in a large series of patients with primary progressive aphasia

M. Mesulam, M. Gorno-Tempini, E. Bigio, 2018, Alzheimer's & Dementia.

AMultiancestral Genome-Wide Exome Array Study of Alzheimer Disease , Frontotemporal Dementia , and Progressive Supranuclear Palsy

D. Geschwind, C. Cotman, A. Levey, 2015 .

CRISPR-Cas9 targeted deletion of the C9orf72 repeat expansion mutation corrects cellular phenotypes in patient-derived iPS cells

H. Vinters, G. Coppola, A. Karydas, 2016, bioRxiv.

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.

Neurodegenerative disease biomarkers Aβ1–40, Aβ1–42, tau, and p‐tau181 in the vervet monkey cerebrospinal fluid: Relation to normal aging, genetic influences, and cerebral amyloid angiopathy

N. Freimer, A. Fagan, R. Woods, 2018, Brain and behavior.

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.

Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy

C. Gregorio, G. Satou, N. Khanlou, 2023, Cells.

Genome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy

Ashley R. Jones, D. Geschwind, C. Lewis, 2019, Movement disorders : official journal of the Movement Disorder Society.

Frontotemporal dementia spectrum: first genetic screen in a Greek cohort

M. Stamelou, G. Coppola, I. Beratis, 2019, Neurobiology of Aging.

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.

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.

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

N. Freimer, M. Nöthen, W. McMahon, 2016, Neuron.

Frontotemporal dementia spectrum: first genetic screen in a Greek cohort

M. Stamelou, G. Coppola, I. Beratis, 2019, Neurobiology of Aging.

VarSight: prioritizing clinically reported variants with binary classification algorithms

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

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.