Michael F. Wangler

发表

VarSight: prioritizing clinically reported variants with binary classification algorithms

Yong Huang, Alexa T. McCray, Pengfei Liu, 2019, BMC Bioinformatics.

Drosophila and genome-wide association studies: a review and resource for the functional dissection of human complex traits

Yanhui Hu, Michael F. Wangler, Joshua M. Shulman, 2017, Disease Models & Mechanisms.

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

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

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Michael F. Wangler, A. Moser, S. Daiger, 2016, Molecular genetics and metabolism reports.

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

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

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

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

Fruit Flies in Biomedical Research

Michael F. Wangler, Hugo J Bellen, H. Bellen, 2015, Genetics.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Lisa T. Emrick, Michael F. Wangler, J. Rosenfeld, 2019, Nature Communications.

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, J. Lupski, R. Gibbs, 2014, PLoS genetics.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Michael F. Wangler, A. Moser, J. Hacia, 2016, Molecular genetics and metabolism.

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Michael F. Wangler, J. Lupski, A. Beaudet, 2017, American journal of human genetics.

Advances in Next-Generation Sequencing Technologies and Functional Investigation of Candidate Variants in Neurological and Behavioral Disorders

Michael F. Wangler, Shinya Yamamoto, J. Posey, 2021, Reference Module in Neuroscience and Biobehavioral Psychology.

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

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

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Michael F. Wangler, E. Zackai, J. Lupski, 2014, 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.

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Michael F. Wangler, L. Ala‐Kokko, M. Wangler, 2010, American journal of human genetics.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Michael F. Wangler, Katerina O. Wells, E. Roeder, 2019, Human mutation.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, PLoS genetics.

Lessons learned from additional research analyses of unsolved clinical exome cases

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, Genome 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.

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Benjamin J. Strober, Sarah E. Gould, David R. Murdock, 2019, Nature Medicine.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Michael F. Wangler, J. Rosenfeld, D. Goldstein, 2017, 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.

Drosophila as a Model for Human Diseases

Michael F. Wangler, M. Wangler, Paul C. Marcogliese, 2018 .

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2020, HGG advances.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

Michael F. Wangler, Sharayu Jangam, D. Sweetser, 2023, medRxiv.

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

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

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.

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.

Cluster Analysis of Short Sensory Profile Data Reveals Sensory-Based Subgroups in Autism Spectrum Disorder

Michael F. Wangler, M. Wangler, A. Lyons-Warren, 2021, International journal of molecular sciences.

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.

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Michael F. Wangler, R. Pfundt, G. Cooper, 2018, Human Genetics.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

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

AHDC1 missense mutations in Xia-Gibbs syndrome

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2021, HGG advances.

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.

A Genocentric Approach to Discovery of Mendelian Disorders.

Michael M. Khayat, Michael F. Wangler, J. Rosenfeld, 2019, American journal of human genetics.

The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases.

Michael F. Wangler, H. Bellen, Shinya Yamamoto, 2019, Human molecular genetics.

The phenotypic spectrum of Xia‐Gibbs syndrome

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2018, American journal of medical genetics. Part A.

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

Michael F. Wangler, Nele A. Haelterman, S. Nelson, 2017, Neuron.

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2021, Human mutation.

Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia

Michael F. Wangler, M. Wangler, F. Scaglia, 2022, American journal of medical genetics. Part A.

In Vivo Animal Modeling: Drosophila

Michael F. Wangler, H. Bellen, M. Wangler, 2016 .

Antioxidant proteins TSA and PAG interact synergistically with Presenilin to modulate Notch signaling in Drosophila

Michael F. Wangler, Jane Y. Wu, M. Wangler, 2011, Protein & Cell.

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

Michael F. Wangler, Nele A. Haelterman, D. Nickerson, 2018, Developmental cell.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, 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, Zhandong Liu, 2017, American journal of human genetics.

Factors associated with preterm delivery in mothers of children with Beckwith–Wiedemann syndrome: A case cohort study from the BWS registry

Michael F. Wangler, A. Feinberg, M. DeBaun, 2005, American journal of medical genetics. Part A.

Inheritance pattern of Beckwith–Wiedemann syndrome is heterogeneous in 291 families with an affected proband

Michael F. Wangler, A. Feinberg, M. Province, 2005, American Journal of Medical Genetics. Part A.

A Genetic Screen for Genes That Impact Peroxisomes in Drosophila Identifies Candidate Genes for Human Disease

Michael F. Wangler, K. Tan, Shinya Yamamoto, 2019, G3: Genes, Genomes, Genetics.

Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: a case series of 19 patients.

Michael F. Wangler, A. Feinberg, M. DeBaun, 2005, Fertility and sterility.

Peroxisomes Are Required for Lipid Metabolism and Muscle Function in Drosophila melanogaster

Michael F. Wangler, H. Brown, P. Ivanova, 2014, PloS one.

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.

Biases in arginine codon usage correlate with genetic disease risk

Michael F. Wangler, N. Hanchard, K. Schulze, 2019, bioRxiv.

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.

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.

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Matthew H. Brush, Trevor S. Frisby, Sarah E. Gould, 2017, Orphanet Journal of Rare Diseases.

Characteristics of undiagnosed diseases network applicants: implications for referring providers

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, BMC Health Services Research.

Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia

Michael F. Wangler, Zhandong Liu, E. Venner, 2020, Molecular genetics & genomic medicine.

Unusually Early Presentation of Small-Bowel Adenocarcinoma in a Patient With Peutz-Jeghers Syndrome

Michael F. Wangler, M. Hegde, S. Plon, 2013, Journal of pediatric hematology/oncology.

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.

Novel CIC variants identified in individuals with neurodevelopmental phenotypes

Michael F. Wangler, J. Rosenfeld, M. Wangler, 2022, Human mutation.

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype

Michael F. Wangler, J. Rosenfeld, H. Mefford, 2020, Molecular genetics & genomic medicine.

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, bioRxiv.

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.

Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder

Ellen F. Macnamara, Michael F. Wangler, C. Tifft, 2022, Scientific Reports.

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 homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Michael F. Wangler, A. Moser, F. Xia, 2015, Molecular genetics and metabolism reports.

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.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Euan A Ashley, Monte Westerfield, Joseph Loscalzo, 2018, The New England journal of medicine.

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

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

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 Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, Genetics in Medicine.

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Michael F. Wangler, Zhandong Liu, P. Pavlidis, 2021, bioRxiv.

Racial disparity in the frequency of recurrence of preterm birth.

Michael F. Wangler, Louis J Muglia, S. Boslaugh, 2007, American journal of obstetrics and gynecology.

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

Michael F. Wangler, J. Rosenfeld, K. Prescott, 2022, American journal of human genetics.

Digital necrosis in an infant with severe spinal muscular atrophy

Michael F. Wangler, S. Lalani, M. Wangler, 2019, Neurology: Genetics.

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Michael F. Wangler, A. Milosavljevic, J. Hacia, 2022, Scientific reports.

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

Lisa T. Emrick, Michael F. Wangler, V. Sutton, 2016, Molecular genetics and metabolism reports.

ACTG2-Related Disorders

Michael F. Wangler, A. Beaudet, 2015 .

Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features.

Michael F. Wangler, H. Bellen, Shinya Yamamoto, 2021, Human molecular genetics.

Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases.

Michael F. Wangler, M. Wangler, L. Hubert, 2018, Pediatric clinics of North America.

Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse

Michael F. Wangler, A. Moser, C. Coarfa, 2017, PLoS genetics.

Evidence For and Against Associations between ART and Congenital Malformation Syndromes

Michael F. Wangler, M. DeBaun, K. Moley, 2005 .

De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Michael F. Wangler, A. Goldman, C. Eng, 2019, Cold Spring Harbor molecular case studies.

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.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Michael F. Wangler, J. Rosenfeld, A. Moser, 2020, Neuron.

ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Michael F. Wangler, Undiagnosed Diseases Network, Zhandong Liu, 2022, Human mutation.

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.

IRF2BPL Is Associated with Neurological Phenotypes.

Henry J. Lin, Rebecca C. Spillmann, Michael F. Wangler, 2018, American journal of human genetics.

Mother’s Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth

Michael F. Wangler, L. Peltonen, I. Borecki, 2009, Human Heredity.

Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.

Michael F. Wangler, D. Wechsler, T. Crawford, 2019, Journal of pediatric hematology/oncology.

De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Ellen F. Macnamara, Michael F. Wangler, H. Bellen, 2022, bioRxiv.

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Sharyn A. Lincoln, Michael F. Wangler, J. Rosenfeld, 2021, Genetics in Medicine.

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Michael F. Wangler, A. Need, S. Levy, 2018, Human molecular genetics.

Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.

Michael F. Wangler, J. Hunter, M. Wangler, 2011, Molecular genetics and metabolism.

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Michael F. Wangler, A. Moser, V. Sutton, 2018, Genetics in Medicine.

ABCD1 and X‐linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models

Michael F. Wangler, M. Wangler, Hyung-Lok Chung, 2021, Journal of neuroscience research.

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.

Xia–Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition

David R. Murdock, Michael M. Khayat, Michael F. Wangler, 2019, Cold Spring Harbor molecular case studies.

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Michael F. Wangler, A. Moser, V. Sutton, 2018, Genetics in Medicine.

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Michael F. Wangler, H. Bellen, F. Xia, 2016, Human molecular genetics.

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Michael F. Wangler, Undiagnosed Diseases Network, A. Vanderver, 2020, Human molecular genetics.

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.

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

E. M. DeGennaro, Sarah E. Gould, David R. Murdock, 2023, Proceedings of the National Academy of Sciences of the United States of America.

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

Michael F. Wangler, Sharayu Jangam, D. Sweetser, 2023, Genetics.

Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans

Michael F. Wangler, H. Bellen, M. Wangler, 2023, Nature reviews. Genetics.

A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins

Michael F. Wangler, S. Celniker, K. Wan, 2023, Cell Reports.

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.

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

Michael F. Wangler, W. Chung, A. Fatemi, 2019, 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.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

Human Mutation

Michael F. Wangler, Nurit Assia Batzir, Katerina O. Wells, 2020 .

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotypeâ€“phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2019 .

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population

Michael F. Wangler, L. Vossaert, Blake Vuocolo, 2023, Molecular genetics & genomic medicine.

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Michael F. Wangler, H. Bellen, Shinya Yamamoto, 2022, Human molecular genetics.

An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders

Michael F. Wangler, R. Brugada, M. Wangler, 2020, Frontiers in Cell and Developmental Biology.

The expanding neurological phenotype of DNM1L-related disorders.

Michael F. Wangler, H. Bellen, M. Wangler, 2018, Brain : a journal of neurology.

De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia

Michael F. Wangler, H. Bellen, Sharayu Jangam, 2023, medRxiv.

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.

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.

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Michael F. Wangler, C. Cytrynbaum, R. Weksberg, 2023, American journal of human genetics.