JeromeLGorskiMD

Pediatrics • Columbia, MO

Professor, Child Health, University of Missouri, Columbia School of Medicine

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Office
404 N Keene St
Columbia, MO 65201
Phone+1 573-882-6921

Fax+1 573-882-1154
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Education & Training

Children's Hospital of PhiladelphiaResidency, Medical Genetics and Genomics, 1981 - 1984
Northwestern University The Feinberg School of MedicineClass of 1978

Certifications & Licensure

MO State Medical License 2006 - 2019
MI State Medical License 1986 - 2008
PA State Medical License 1982 - 1988
IL State Medical License 1979 - 1987
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Pediatrics Pediatrics

Awards, Honors, & Recognition

Regional Top Doctor Castle Connolly, 2014

Publications & Presentations

PubMed

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny K...> ;Genetics in Medicine. 2021 Jul 1
4 citations
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny K...> ;Genetics in Medicine. 2021 Jul 1
6 citations
Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development.
Yang Cao, Elyse Mitchell, Jerome L. Gorski, Cassandra Hollinger, Nicole L. Hoppman> ;American Journal of Medical Genetics. Part A. 2016 Aug 19
14 citations
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Jill A. Rosenfeld, Joyce E. Fox, Maria Descartes, Fallon Brewer, Tracy Stroud, Jerome L. Gorski, Sheila J. Upton, John B. Moeschler, Berrin Monteleone, Nicholas J. Nei...> ;American Journal of Medical Genetics. Part A. 2015 Feb 1
Change in blood gelsolin concentration in response to physical exercise.
Yu, C. C.,Zendzian-Piotrowska, M.,Charmas, M.,Długołęcka, B.,Baranowski, M.,Górski, J.,Bucki, R.> ;Biol Sport. 2014 Apr 20
8 citations
Molecular and clinical delineation of the 17q22 microdeletion phenotype
Tobias Laurell, Johanna Lundin, Britt-Marie Anderlid, Jerome L. Gorski, Giedre Grigelioniene, Samantha J. L. Knight, Ana Cristina Victorino Krepischi, Agneta Nordenskj...> ;European Journal of Human Genetics. 2013 Jan 30
35 citations
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly
Jill A. Rosenfeld, Katherine H. Kim, Brad Angle, Robin Troxell, Jerome L. Gorski, M. Westemeyer, M. Frydman, Y. Senturias, D. Earl, B. Torchia, Roger A. Schultz, Jay W...> ;Molecular Syndromology. 2013 Jan 5
129 citations
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Francois P. Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Je...> ;American Journal of Human Genetics. 2012 May 4
36 citations
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
Heather C Mefford, Jill A. Rosenfeld, Natasha Shur, Anne Slavotinek, Victoria A. Cox, Raoul C.M. Hennekam, Helen V. Firth, Lionel Willatt, Patricia G. Wheeler, Eric M....> ;Journal of Medical Genetics. 2012 Feb 1
39 citations
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Pawel Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Ma...> ;Human Mutation. 2012 Jan 1
932 citations
A copy number variation morbidity map of developmental delay
Gregory M. Cooper, Bradley P. Coe, Santhosh Girirajan, Jill A. Rosenfeld, Tiffany H. Vu, Carl Baker, Charles A. Williams, Heather J. Stalker, Rizwan Hamid, Vickie L. H...> ;Nature Genetics. 2011 Sep 1
11 citations
Unilateral Frontosphenoidal Craniosynostosis With Achondroplasia: A Case Report
Bradley A. Hubbard, Jerome L. Gorski, Arshad R. Muzaffar> ;The Cleft Palate-Craniofacial Journal. 2011 Aug 29
4 citations
Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned
Judith E Livingston, Bradford L. Therrell, Marie Y. Mann, Carolyn Stady Anderson, Katherine M. Christensen, Jerome L. Gorski, Dorothy K. Grange, Dawn Peck, Margy Rober...> ;Journal of Community Genetics. 2011 Jul 6
14 citations
The Cdc42 Guanine Nucleotide Exchange Factor FGD1 Regulates Osteogenesis in Human Mesenchymal Stem Cells
Lin Gao, Jerome L. Gorski, Christopher S. Chen> ;The American Journal of Pathology. 2011 Mar 1
47 citations
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions
Jill A. Rosenfeld, John A. Crolla, Susan Tomkins, Patricia I. Bader, Bernice E. Morrow, Jerome L. Gorski, Robin Troxell, Cynthia J. Forster-Gibson, Deirdre Cilliers, R...> ;American Journal of Medical Genetics. Part A. 2010 Jul 15
45 citations
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
Bernard Thienpont, Frédérique Béna, Jeroen Breckpot, Nicole Philip, Björn Menten, Hilde Van Esch, Emmanuel Scalais, Jessica M. Salamone, Chin-To Fong, Jennifer Kussman...> ;Journal of Medical Genetics. 2010 Mar 1
50 citations
Faciogenital Dysplasia Protein (FGD1) Regulates Export of Cargo Proteins from the Golgi Complex via Cdc42 Activation
Mikhail V. Egorov, Mariagrazia Capestrano, Olesya A. Vorontsova, Alessio Di Pentima, Anastasia V. Egorova, Stefania Mariggiò, M. Inmaculada Ayala, Stefano Tete, Jerome...> ;Molecular Biology of the Cell. 2009 May 1
30 citations
Effect of Fgd1 on Cortactin in Arp2/3 Complex-Mediated Actin Assembly†
Kyoungtae Kim, Peng Hou, Jerome L. Gorski, John A. Cooper> ;Biochemistry. 2004 Mar 9
49 citations
Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance
Peter Hedera, Jerome L. Gorski> ;American Journal of Medical Genetics. Part A. 2003 Dec 15
71 citations
Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape
Peng Hou, Lourdes Estrada, Andrew W. Kinley, J. Thomas Parsons, Anne B. Vojtek, Jerome L. Gorski> ;Human Molecular Genetics. 2003 Aug 15
13 citations
Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation.
C. E. Keegan, Donna M. Martin, Douglas J. Quint, Jerome L. Gorski> ;European Journal of Pediatrics. 2003 Feb 7
9 citations
Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a Maternal (20;5) balanced insertion
Donna M. Martin, Margaret H. Mindell, Christine A. Kwierant, Thomas W. Glover, Jerome L. Gorski> ;American Journal of Medical Genetics. Part A. 2003 Jan 30
28 citations
The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis.
Jingtong Gao, Lourdes Estrada, Soochin Cho, Ronald E. Ellis, Jerome L. Gorski> ;Human Molecular Genetics. 2001 Dec 15
2 citations
Ocular malformations, postaxial polydactyly, and delayed intramembranous ossification: a new autosomal dominant condition
Donna M. Martin, Jerome L. Gorski> ;Journal of Medical Genetics. 2001 Aug 1
4 citations
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome.
Peter Hedera, Jerome L. Gorski> ;American Journal of Medical Genetics. 2001 Jun 15
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Grant Support

Isolation And Characterization Of Genes Responsible For Mammalian DevelopmentNational Center For Research Resources1997–2002
Fgd1/Cdc42: Signal Transduction &Developmental GeneticsEunice Kennedy Shriver National Institute Of Child Health &Human Development1997–2000
Analysis And Cloning Of A Developmental Skin LocusNational Center For Research Resources1996–2000
Molecular Analysis And Cloning Of The Aarskog Syndrome (FGDY) Gene LocusNational Center For Research Resources1996–1999
Analysis And Cloning Of A Developmental Skin LocusNational Institute Of Neurological Disorders And Stroke1991–1994
Analysis And Cloning Of A Developmental Skin LocusEunice Kennedy Shriver National Institute Of Child Health &Human Development1989–1990
Analysis &Cloning Of A Development Skin LocusEunice Kennedy Shriver National Institute Of Child Health &Human Development1988
Molecular Genetics Training: Ribosomal Gene ExpressionEunice Kennedy Shriver National Institute Of Child Health &Human Development1986–1988
Molecular Genetics Training: Ribosomal Gene ExpressionEunice Kennedy Shriver National Institute Of Child Health &Human Development1985

Hospital Affiliations

Mercy Hospital Fort SmithFort Smith, Arkansas

JeromeLGorskiMD

Dr. Gorski is on Doximity

Education & Training

Certifications & Licensure

Awards, Honors, & Recognition

Publications & Presentations

Grant Support

Hospital Affiliations

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