Jerome L. Gorski

Biochemistry, Genetics and Molecular Biology · Life Sciences

37h-index6.6kcitations95works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(15), Fibroblast Growth Factor Research(13), Wnt/β-catenin signaling in development and cancer(10), Genetic and rare skin diseases.(10), Connective tissue disorders research(9)

Publications95 total

Advancements in Uterine Fibroid Management: Current Trends and Future Directions
Medical Science·2025Open Access
Comprehensive management of attention deficit hyperactivity disorder with comorbidity in children and adolescents: pharmacological and nonpharmacological strategies
Medical Science·2025Open Access
Advances in Neuroregeneration and Multimodal Therapeutic Approaches for Post-Traumatic Trigeminal Neuropathy Following Maxillofacial Fractures: A Comprehensive Review
Medical Science·2025Open Access
Psychopharmacological interventions for co-occurring substance use and mental health disorders: a comprehensive review
Medical Science·2025Open Access
Psychological Impact of Facial Scarring in Maxillofacial Trauma Patients: A Systematic Review
Medical Science·2025Open Access
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Genetics in Medicine·2021Open Access
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Genetics in Medicine·2021· 13 citedOpen Access
CDC42 and FGD1 Cause Distinct Signaling and Transforming Activities
UNC Libraries·2020Open Access
Two cases with de novo 3q26.31 microdeletion suggest a role for <i>FNDC3B</i> in human craniofacial development
American Journal of Medical Genetics Part A·2016· 8 cited
FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome); McKusick #305400
Oxford University Press eBooks·2016
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster
American Journal of Medical Genetics Part A·2014· 52 cited
Corrigendum: A copy number variation morbidity map of developmental delay
Nature Genetics·2014· 7 citedOpen Access
Molecular and clinical delineation of the 17q22 microdeletion phenotype
European Journal of Human Genetics·2013· 44 citedOpen Access
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
The American Journal of Human Genetics·2012· 225 citedOpen Access
Further evidence of contrasting phenotypes caused by reciprocal deletions and duplications
Molecular Syndromology·2012
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly
Molecular Syndromology·2012· 46 citedOpen Access
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
Journal of Medical Genetics·2011· 90 citedOpen Access
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
Human Mutation·2011· 60 citedOpen Access
A copy number variation morbidity map of developmental delay
Nature Genetics·2011· 1.4k citedOpen Access
Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned
Journal of Community Genetics·2011· 6 citedOpen Access
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Frequent Co-authors

Jill A. Rosenfeld(7), Thomas W. Glover(6), N.German Pasteris(6), Jennifer Kussmann(5), Blake C. Ballif(5), Lisa G. Shaffer(5), Marie McDonald(5), Roy D. Schmickel(4), Susan Sheldon(4), Evan E. Eichler(3), Valerie Banks(3), Wendy E. Smith(3), John B. Moeschler(3), Elaine H. Zackai(3), James E. Sylvester(3), Iris L. Gonzalez(3), Alan Hall(3), Wendy L. Flejter(3), Allen N. Lamb(3), Gregory M. Cooper(2)