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J. Hecht · SciRah

Researcher profile · Semantic Scholar

J. Hecht

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J. Hecht — researcher profile on SciRah

h-index: 57
Works: 231
Citations: 12K

Most-cited papers

Cartilage oligomeric matrix protein: COMPopathies and beyond
K. Posey, Francoise Coustry, J. Hecht
2018Matrix Biology209 citations Open access
Semantic Scholar
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Margaret J. McMillin, A. Beck, Jessica X. Chong, Kathryn M. B. Shively +41 more
2014American Journal of Human Genetics199 citations Open access
Semantic Scholar
Essential hypertension vs. secondary hypertension among children.
Monesha Gupta-Malhotra, A. Banker, S. Shete, S. Hashmi +5 more
2015American Journal of Hypertension195 citations Open access
Semantic Scholar
Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology
J. Shaffer, E. Orlova, M. Lee, E. Leslie +21 more
2016PLoS Genetics171 citations Open access
Semantic Scholar
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.
E. Leslie, M. Taub, Huan Liu, K. Steinberg +30 more
2015American Journal of Human Genetics167 citations Open access
Semantic Scholar
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate
E. Leslie, J. Carlson, J. Shaffer, A. Butali +16 more
2017Human Genetics162 citations Open access
Semantic Scholar
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
E. Leslie, Huan Liu, J. Carlson, J. Shaffer +54 more
2016American Journal of Human Genetics148 citations Open access
Semantic Scholar
The 3D Facial Norms Database: Part 1. A Web-Based Craniofacial Anthropometric and Image Repository for the Clinical and Research Community
S. Weinberg, Zachary D. Raffensperger, Matthew J. Kesterke, C. Heike +7 more
2015The Cleft Palate-Craniofacial Journal105 citations Open access
Semantic Scholar
Using the 3D Facial Norms Database to investigate craniofacial sexual dimorphism in healthy children, adolescents, and adults
Matthew J. Kesterke, Zachary D. Raffensperger, C. Heike, M. Cunningham +7 more
2016Biology of Sex Differences95 citations Open access
Semantic Scholar
Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history.
J. Hoover-Fong, M. Cheung, V. Fano, L. Hagenäs +13 more
2021Bone79 citations Open access
Semantic Scholar
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
C. Gonzaga-Jauregui, Candace Gamble, Bo Yuan, Samantha Penney +5 more
2014European Journal of Human Genetics77 citations Open access
Semantic Scholar
Mutations in ECEL1 cause distal arthrogryposis type 5D.
Margaret J. McMillin, J. Below, Kathryn M. B. Shively, A. Beck +16 more
2013American Journal of Human Genetics75 citations Open access
Semantic Scholar
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Madison R. Bishop, Kimberly K. Diaz Perez, Miranda R. Sun, Samantha Ho +23 more
2020American Journal of Human Genetics73 citations Open access
Semantic Scholar
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States
J. Hoover-Fong, Adekemi Y. Alade, S. Hashmi, J. Hecht +11 more
2021Genetics in Medicine51 citations Open access
Semantic Scholar
Maternal report of fever from cold or flu during early pregnancy and the risk for noncardiac birth defects, National Birth Defects Prevention Study, 1997–2011
D. Waller, S. Hashmi, A. Hoyt, H. Dương +6 more
2017Birth Defects Research51 citations Open access
Semantic Scholar
Etiopathogenesis of equinovarus foot malformations.
C. Bacino, J. Hecht
2014European Journal of Medical Genetics50 citations
Semantic Scholar
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
J. Shaffer, Jinxi Li, M. Lee, Jasmien Roosenboom +52 more
2017American Journal of Human Genetics47 citations Open access
Semantic Scholar
Pseudoachondroplasia/COMP — translating from the bench to the bedside
K. Posey, J. L. Alcorn, J. Hecht
2014Matrix Biology44 citations Open access
Semantic Scholar
SNPs Associated With Testosterone Levels Influence Human Facial Morphology
Jasmien Roosenboom, K. Indencleef, M. Lee, Hanne Hoskens +13 more
2018Frontiers in Genetics43 citations Open access
Semantic Scholar
D469del-COMP retention in chondrocytes stimulates caspase-independent necroptosis.
Francoise Coustry, K. Posey, Peiman Liu, J. L. Alcorn +1 more
2012American Journal of Pathology43 citations Open access
Semantic Scholar
Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate
E. Leslie, J. Carlson, J. Shaffer, C. J. Buxó +14 more
2017American Journal of Medical Genetics. Part A41 citations Open access
Semantic Scholar
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia.
K. Posey, Francoise Coustry, Alka C. Veerisetty, Peiman Liu +2 more
2012American Journal of Pathology41 citations Open access
Semantic Scholar
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals
J. Carlson, D. Anand, A. Butali, C. J. Buxó +17 more
2019Genetic Epidemiology40 citations Open access
Semantic Scholar
Deletions of 5’ HOXC genes are associated with lower extremity malformations including clubfoot and vertical talus
David M. Alvarado, Kevin Mccall, J. Hecht, M. Dobbs +1 more
2016Journal of Medical Genetics40 citations Open access
Semantic Scholar
Association of MMP3 and TIMP2 Promoter Polymorphisms with Nonsyndromic Oral Clefts
A. Letra, R. Silva, L. G. Motta, S. Blanton +3 more
2012Birth defects research. Clinical and molecular teratology38 citations Open access
Semantic Scholar
Genome-Wide Association Study (GWAS) of dental caries in diverse populations
R. Alotaibi, B. J. Howe, J. Chernus, N. Mukhopadhyay +15 more
2021BMC Oral Health37 citations Open access
Semantic Scholar
Dental anomaly detection using intraoral photos via deep learning
Ronilo J. Ragodos, Tong Wang, C. Padilla, J. Hecht +11 more
2021Scientific Reports37 citations Open access
Semantic Scholar
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21
N. Mukhopadhyay, Madison R. Bishop, Michael Mortillo, P. Chopra +15 more
2019Human Genetics36 citations Open access
Semantic Scholar
A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2
Elisa Degenkolbe, Jana König, J. Zimmer, Maria Walther +10 more
2013PLoS Genetics36 citations Open access
Semantic Scholar
Primary OA early joint degeneration induced by ER-stress is mitigated by resveratrol.
J. Hecht, Alka C. Veerisetty, Juliana Wu, Francoise Coustry +4 more
2021American Journal of Pathology35 citations Open access
Semantic Scholar
Neurologic manifestations of achondroplasia.
J. Hecht, John B. Bodensteiner, I. Butler
2014Handbook of Clinical Neurology34 citations
Semantic Scholar
Further Evidence Suggesting a Role for Variation in ARHGAP29 in Nonsyndromic Cleft Lip/Palate
A. Letra, Lorena Maili, J. Mulliken, Edward P. Buchanan +2 more
2014Birth defects research. Clinical and molecular teratology32 citations Open access
Semantic Scholar
Mutant cartilage oligomeric matrix protein (COMP) compromises bone integrity, joint function and the balance between adipogenesis and osteogenesis
Francoise Coustry, K. Posey, Tristan Maerz, K. Baker +12 more
2018Matrix Biology29 citations Open access
Semantic Scholar
Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism
K. Weymouth, S. Blanton, T. Powell, C. V. Patel +2 more
2016Clinical Orthopaedics and Related Research29 citations Open access
Semantic Scholar
Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions
N. Mukhopadhyay, E. Feingold, L. Moreno Uribe, G. Wehby +17 more
2020Frontiers in Cell and Developmental Biology27 citations Open access
Semantic Scholar
Role of WNT10A in failure of tooth development in humans and zebrafish
Qiuping Yuan, Min Zhao, Bhavna Tandon, Lorena Maili +9 more
2017Molecular Genetics & Genomic Medicine27 citations Open access
Semantic Scholar
Genome-wide association study identifies new disease loci for isolated clubfoot
Tian-Xiao Zhang, Gabe Haller, P. Lin, David M. Alvarado +6 more
2014Journal of Medical Genetics26 citations
Semantic Scholar
PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate
Lorena Maili, A. Letra, R. Silva, Edward P. Buchanan +9 more
2019Birth Defects Research25 citations Open access
Semantic Scholar
Novel therapeutic interventions for pseudoachondroplasia
K. Posey, J. Hecht
2017Bone25 citations Open access
Semantic Scholar
Loss of β-catenin induces multifocal periosteal chondroma-like masses in mice.
L. Cantley, Cheri M Saunders, Marta Guttenberg, M. E. Candela +17 more
2013American Journal of Pathology24 citations Open access
Semantic Scholar
Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers
Nickolas J. Nahm, W. G. Stuart Mackenzie, W. Mackenzie, E. Gough +11 more
2023Orphanet Journal of Rare Diseases22 citations Open access
Semantic Scholar
Resveratrol Reduces COMPopathy in Mice Through Activation of Autophagy
J. Hecht, Francoise Coustry, Alka C. Veerisetty, Mohammad G. Hossain +1 more
2020bioRxiv22 citations Open access
Semantic Scholar
Antisense Reduction of Mutant COMP Reduces Growth Plate Chondrocyte Pathology.
K. Posey, Francoise Coustry, Alka C. Veerisetty, Mohammad G. Hossain +5 more
2017Molecular Therapy22 citations Open access
Semantic Scholar
The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation
K. Indencleef, Hanne Hoskens, M. Lee, Julie D. White +19 more
2021Frontiers in Genetics20 citations Open access
Semantic Scholar
Polygenic risk impacts PDGFRA mutation penetrance in nonsyndromic cleft lip and palate.
Yao Yu, Rolando Alvarado, L. Petty, Ryan J Bohlender +10 more
2022Human Molecular Genetics19 citations Open access
Semantic Scholar
Blood pressure in adults with short stature skeletal dysplasias
J. Hoover-Fong, Adekemi Y. Alade, M. Ain, I. Berkowitz +13 more
2019American Journal of Medical Genetics. Part A19 citations
Semantic Scholar
DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate
Juan I. Young, S. Slifer, J. Hecht, S. Blanton
2021Frontiers in Cell and Developmental Biology18 citations Open access
Semantic Scholar
Multivariate GWAS of Structural Dental Anomalies and Dental Caries in a Multi-Ethnic Cohort
R. Alotaibi, B. J. Howe, L. Moreno Uribe, Consuelo Valencia Ramirez +12 more
2022Frontiers in Dental Medicine17 citations Open access
Semantic Scholar
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting
Kimberly K. Diaz Perez, Sarah W. Curtis, A. Sanchis-Juan, Xue-Fang Zhao +19 more
2022medRxiv16 citations Open access
Semantic Scholar
Hypertelorism and Orofacial Clefting Revisited
S. Weinberg, E. Leslie, J. Hecht, G. Wehby +4 more
2016The Cleft Palate-Craniofacial Journal16 citations Open access
Semantic Scholar

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