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F. High · SciRah

Researcher profile · Semantic Scholar

F. High

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F. High — researcher profile on SciRah

h-index: 32
Works: 81
Citations: 5,394

Most-cited papers

Role of T-bet in Commitment of TH1 Cells Before IL-12-Dependent Selection
A. Mullen, F. High, Anne S. Hutchins, Hubert W. Lee +7 more
2001Science993 citations
Semantic Scholar
Hlx is induced by and genetically interacts with T-bet to promote heritable TH1 gene induction
A. Mullen, Anne S. Hutchins, F. High, Hubert W. Lee +3 more
2002Nature Immunology362 citations
Semantic Scholar
Endothelial expression of the Notch ligand Jagged1 is required for vascular smooth muscle development
F. High, Min M. Lu, W. Pear, K. Loomes +2 more
2008Proceedings of the National Academy of Sciences of the United States of America325 citations Open access
Semantic Scholar
The multifaceted role of Notch in cardiac development and disease
F. High, J. Epstein
2008Nature reviews genetics317 citations
Semantic Scholar
An essential role for Notch in neural crest during cardiovascular development and smooth muscle differentiation.
F. High, Maozhen Zhang, A. Proweller, Lili Tu +3 more
2007Journal of Clinical Investigation265 citations Open access
Semantic Scholar
Insertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives.
K. Engleka, A. Gitler, Maozhen Zhang, Diane D. Zhou +2 more
2005Developmental Biology258 citations Open access
Semantic Scholar
Notch signaling in cardiac development
F. High
2007244 citations
Semantic Scholar
Gene silencing quantitatively controls the function of a developmental trans-activator.
Anne S. Hutchins, A. Mullen, Hubert W. Lee, K. J. Sykes +4 more
2002Molecules and Cells243 citations Open access
Semantic Scholar
Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development.
F. High, R. Jain, Jason Z Stoller, Nicole B. Antonucci +5 more
2009Journal of Clinical Investigation197 citations Open access
Semantic Scholar
The RGG domain in hnRNP A2 affects subcellular localization.
R. C. Nichols, Xiao-Wei Wang, Jie Tang, B. Hamilton +3 more
2000Experimental Cell Research187 citations Open access
Semantic Scholar
Notch activation of Jagged1 contributes to the assembly of the arterial wall
L. Manderfield, F. High, Kurt A. Engelka, Fei-Yan Liu +3 more
2011Circulation166 citations Open access
Semantic Scholar
Nuclear repositioning marks the selective exclusion of lineage‐inappropriate transcription factor loci during T helper cell differentiation
Susannah L. Hewitt, F. High, Steven L. Reiner, A. Fisher +1 more
2004European Journal of Immunology141 citations Open access
Semantic Scholar
Induction of Cytotoxic T Lymphocyte Antigen 4 (Ctla-4) Restricts Clonal Expansion of Helper T Cells
A. Doyle, A. Mullen, A. Villarino, Anne S. Hutchins +4 more
2001Journal of Experimental Medicine120 citations Open access
Semantic Scholar
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
Hongjian Qi, Lan Yu, Xue-Ya Zhou, J. Wynn +25 more
2018PLoS Genetics107 citations Open access
Semantic Scholar
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
M. J. Guillen Sacoto, Iva A. Tchasovnikarova, E. Torti, C. Forster +43 more
2020American Journal of Human Genetics93 citations Open access
Semantic Scholar
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
C. Bauer, P. Calligari, F. Radio, V. Caputo +20 more
2018American Journal of Human Genetics92 citations Open access
Semantic Scholar
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Hanyin Cheng, A. Dharmadhikari, Sylvia Varland, Ning Ma +68 more
2018American Journal of Human Genetics85 citations Open access
Semantic Scholar
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Elena-Raluca Nicoli, Mary R Weston, Mary E. Hackbarth, Alissa J. Becerril +264 more
2019American Journal of Human Genetics84 citations Open access
Semantic Scholar
N-cadherin is required for neural crest remodeling of the cardiac outflow tract.
Yang Luo, F. High, J. Epstein, G. Radice
2006Developmental Biology76 citations Open access
Semantic Scholar
Cell cycle controlling the silencing and functioning of mammalian activators.
A. Mullen, Anne S. Hutchins, A. Villarino, Hubert W. Lee +5 more
2001Current Biology76 citations Open access
Semantic Scholar
Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.
P. Donahoe, M. Longoni, F. High
2016American Journal of Pathology74 citations Open access
Semantic Scholar
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region
Mckenna Kelly, Meredith Park, I. Mihalek, Anne M Rochtus +19 more
2019Epilepsia68 citations Open access
Semantic Scholar
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex Congenital Diaphragmatic Hernia
M. Longoni, F. High, Hongjian Qi, Maliackal P. Joy +10 more
2017Human Genetics67 citations Open access
Semantic Scholar
Cutting Edge: Innate Production of IFN-γ by NK Cells Is Independent of Epigenetic Modification of the IFN-γ Promoter1
C. Tato, G. Martins, F. High, Catherine B. DiCioccio +2 more
2004Journal of Immunology65 citations
Semantic Scholar
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics
M. Longoni, F. High, M. Russell, A. Kashani +12 more
2014Proceedings of the National Academy of Sciences of the United States of America56 citations Open access
Semantic Scholar
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia
M. Longoni, M. Russell, F. High, K. Darvishi +13 more
2014Clinical Genetics51 citations Open access
Semantic Scholar
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
L. Qiao, Le Xu, Lan Yu, J. Wynn +34 more
2021American Journal of Human Genetics45 citations Open access
Semantic Scholar
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.
Debdeep Dutta, L. Briere, O. Kanca, Paul C. Marcogliese +14 more
2020Human Molecular Genetics36 citations Open access
Semantic Scholar
De Novo Frameshift Mutation in COUP-TFII (NR2F2) in Human Congenital Diaphragmatic Hernia
F. High, P. Bhayani, Jay M. Wilson, C. Bult +2 more
2016American Journal of Medical Genetics. Part A35 citations Open access
Semantic Scholar
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy
L. Briere, M. Walker, F. High, Cynthia M. Cooper +14 more
2021Cold Spring Harbor molecular case studies34 citations Open access
Semantic Scholar
Systematic analysis of copy number variation associated with congenital diaphragmatic hernia
Qi-Hui Zhu, F. High, Cheng-Sheng Zhang, E. Cerveira +12 more
2018Proceedings of the National Academy of Sciences of the United States of America34 citations Open access
Semantic Scholar
Cutting Edge: Innate production of IFN-gamma by NK cells is independent of epigenetic modification of the IFN-gamma promoter.
C. Tato, G. Martins, F. High, Catherine B. DiCioccio +2 more
2004Journal of Immunology33 citations
Semantic Scholar
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Laura Castilla-Vallmanya, K. Selmer, Clémantine Dimartino, R. Rabionet +96 more
2020Genetics in Medicine31 citations Open access
Semantic Scholar
Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations
A. Lin, S. Santoro, F. High, P. Goldenberg +1 more
2019American Journal of Medical Genetics. Part C, Seminars in Medical Genetics27 citations
Semantic Scholar
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
Linyan Meng, P. Isohanni, Yunru Shao, B. Graham +41 more
2021Annals of Neurology25 citations Open access
Semantic Scholar
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
D. Nagy, S. Verheyen, Kristen M. Wigby, A. Borovikov +18 more
2022Genes24 citations Open access
Semantic Scholar
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
R. Maroofian, R. Kaiyrzhanov, Elisa Calì, M. Zamani +82 more
2023Brain : a journal of neurology22 citations Open access
Semantic Scholar
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Yan Huang, G. Lemire, L. Briere, Fang Liu +12 more
2022American Journal of Human Genetics20 citations Open access
Semantic Scholar
Signalling pathways regulating cardiac neural crest migration and differentiation.
F. High, J. Epstein
2007Novartis Foundation symposium20 citations
Semantic Scholar
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
H. Cope, H. Barseghyan, Surajit Bhattacharya, Yu-Long Fu +290 more
2021Molecular Genetics & Genomic Medicine19 citations Open access
Semantic Scholar
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
M. Ganapathi, G. Friocourt, N. Gueguen, Marisa W. Friederich +34 more
2022Journal of Inherited Metabolic Disease18 citations Open access
Semantic Scholar
A tracheal aspirate-derived airway basal cell model reveals a proinflammatory epithelial defect in congenital diaphragmatic hernia
Richard Wagner, G. Amonkar, W. Wang, Jessica E. Shui +10 more
2022bioRxiv18 citations Open access
Semantic Scholar
Notch Activation of Jagged 1 Contributes to the Assembly of the Arterial Wall
L. Manderfield, F. High, K. Engleka, Feiyan Liu +3 more
201216 citations
Semantic Scholar
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.
Lu Qiao, Carrie L. Welch, R. Hernan, J. Wynn +47 more
2024American Journal of Human Genetics14 citations Open access
Semantic Scholar
Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?
Rebecca M Reimers, F. High, J. Kremen, L. Wilkins-Haug
2022Prenatal Diagnosis14 citations
Semantic Scholar
Use of Antiseizure Medications Early in Pregnancy and the Risk of Major Malformations in the Newborn.
S. Hernández-Díaz, Moira Quinn, Susan Conant, Amy Lyons +9 more
2025Neurology13 citations
Semantic Scholar
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Marie Morimoto, V. Bhambhani, Nour Gazzaz, M. Davids +274 more
2023npj Genomic Medicine12 citations Open access
Semantic Scholar
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
S. Jamuar, Hatice Duzkale, Neslihan Duzkale, Cheng-Sheng Zhang +7 more
2015American Journal of Medical Genetics. Part A11 citations
Semantic Scholar
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.
S. Jangam, L. Briere, Kristy Jay, Jonathan C. Andrews +6 more
2023Genetics10 citations Open access
Semantic Scholar
De novo variants in DENND5B cause a neurodevelopmental disorder
M. Scala, Valeria Tomati, Matteo P. Ferla, Mariateresa Lena +282 more
2024American Journal of Human Genetics9 citations Open access
Semantic Scholar

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