F. High

发表

N-cadherin is required for neural crest remodeling of the cardiac outflow tract.

J. Epstein, Yang Luo, G. Radice, 2006, Developmental biology.

The RGG domain in hnRNP A2 affects subcellular localization.

X. W. Wang, H. Herschman, J. Tang, 2000, Experimental cell research.

De novo frameshift mutation in COUP‐TFII (NR2F2) in human congenital diaphragmatic hernia

C. Bult, P. Donahoe, Jay M. Wilson, 2016, American journal of medical genetics. Part A.

Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development

K. Kaestner, J. Epstein, W. Pear, 2008, Proceedings of the National Academy of Sciences.

An essential role for Notch in neural crest during cardiovascular development and smooth muscle differentiation.

J. Epstein, W. Pear, M. Parmacek, 2007, The Journal of clinical investigation.

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy

Undiagnosed Diseases Network, M. Komatsu, J. Phillips, 2021, Cold Spring Harbor molecular case studies.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

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

Induction of Cytotoxic T Lymphocyte Antigen 4 (Ctla-4) Restricts Clonal Expansion of Helper T Cells

C. Thompson, A. Villarino, A. Doyle, 2001, The Journal of experimental medicine.

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

W. Chung, Yufeng Shen, P. Donahoe, 2018, PLoS genetics.

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.

H. Bellen, K. Boycott, K. Kernohan, 2022, American journal of human 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.

Case 29-2022: A 33-Year-Old Man with Chronic Diarrhea and Autoimmune Enteropathy.

S. Shroff, F. Colizzo, Sara Barmettler, 2022, The New England journal of medicine.

Signalling pathways regulating cardiac neural crest migration and differentiation.

J. Epstein, F. High, 2007, Novartis Foundation symposium.

Cell cycle controlling the silencing and functioning of mammalian activators

X. Hua, S. Yang, A. Villarino, 2001, Current Biology.

Case 30-2022: A Newborn Girl with Hypoglycemia.

S. Westra, Juan D. Matute, S. Sen, 2022, The New England journal of medicine.

Cutting Edge: Innate Production of IFN-γ by NK Cells Is Independent of Epigenetic Modification of the IFN-γ Promoter1

C. Tato, C. Hunter, G. Martins, 2004, The Journal of Immunology.

A tracheal aspirate-derived airway basal cell model reveals a proinflammatory epithelial defect in congenital diaphragmatic hernia

W. Wang, R. Keijzer, P. Lerou, 2022, bioRxiv.

Cutting Edge: Innate production of IFN-gamma by NK cells is independent of epigenetic modification of the IFN-gamma promoter.

C. Tato, C. Hunter, G. Martins, 2004, Journal of immunology.

Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

A. Lin, S. Santoro, Iris Gutmark-Little, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.

P. Donahoe, M. Longoni, F. High, 2016, The American journal of pathology.

Nuclear repositioning marks the selective exclusion of lineage‐inappropriate transcription factor loci during T helper cell differentiation

A. Fisher, M. Merkenschlager, S. Reiner, 2004, European journal of immunology.

The multifaceted role of Notch in cardiac development and disease

Jonathan A. Epstein, J. Epstein, Frances A. High, 2008, Nature Reviews Genetics.

Notch Activation of Jagged1 Contributes to the Assembly of the Arterial Wall

J. Epstein, Feiyan Liu, Lauren J. Manderfield, 2012, Circulation.

Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development.

K. Kaestner, J. Epstein, W. Pear, 2009, The Journal of clinical investigation.

Insertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives.

J. Epstein, A. Gitler, Maozhen Zhang, 2005, Developmental biology.

Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia

C. Bult, W. Chung, Yufeng Shen, 2017, 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.

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

C. Bult, P. Donahoe, P. Giampietro, 2021, medRxiv.

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

Sarah E. Gould, David R. Murdock, Jean M. Davidson, 2019, Nature Medicine.

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.

W. Chung, Yufeng Shen, P. Donahoe, 2021, American journal of human genetics.

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.

Gene silencing quantitatively controls the function of a developmental trans-activator.

A. Bird, B. Hendrich, A. Mullen, 2002, Molecular cell.

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

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

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Yufeng Shen, R. Ganetzky, C. Voisset, 2022, Journal of inherited metabolic disease.

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.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

C. Cytrynbaum, R. Weksberg, R. Kingston, 2020, American journal of human genetics.

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

I. Scheffer, I. Mihalek, L. Swanson, 2019, Epilepsia.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

J. Rosenfeld, R. Pfundt, M. Shaw, 2018, American journal of human genetics.

Hlx is induced by and genetically interacts with T-bet to promote heritable TH1 gene induction

L. Chodosh, A. Mullen, S. Reiner, 2002, Nature Immunology.

Role of T-bet in Commitment of TH1 Cells Before IL-12-Dependent Selection

Andrew L. Kung, David M. Livingston, Nezih Cereb, 2001, Science.

Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?

L. Wilkins-Haug, Jessica Kremen, F. High, 2022, Prenatal diagnosis.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

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.

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.

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.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

S. Pro, M. Digilio, R. Person, 2018, American journal of human genetics.

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.

Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia

K. Lage, P. Donahoe, A. Kashani, 2015, Clinical genetics.

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics

C. Bult, K. Lage, P. Donahoe, 2014, Proceedings of the National Academy of Sciences.

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

W. Chung, Kristen Wigby, C. Fagerberg, 2022, Genes.

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.

Systematic analysis of copy number variation associated with congenital diaphragmatic hernia

P. Donahoe, Mallory Ryan, Chengsheng Zhang, 2018, Proceedings of the National Academy of Sciences.

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 and ALYREF as new candidate risk genes

P. Donahoe, B. Vardarajan, D. Potoka, 2021, medRxiv.

FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia

C. Shaw, P. Donahoe, I. Campbell, 2021, Journal of Pediatric Genetics.

Deletion of chromosome 8q22.1, a critical region for Nablus mask‐like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype

J. Stoler, S. Kantarci, A. Lin, 2015, American journal of medical genetics. Part A.

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.

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.

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.

Genetic analysis of de novo variants reveals sex differences in complex and isolated congenital diaphragmatic hernia and indicates MYRF as a candidate gene

W. Chung, D. Nickerson, Yufeng Shen, 2017, bioRxiv.

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.

Notch signaling in cardiac development

F. High, 2007 .

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

J. Lupski, T. Scott, F. High, 2023, The American Journal of Human Genetics.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

J. Lupski, S. Lalani, Matteo P. Ferla, 2023, Brain : a journal of neurology.

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.