Physician
Medical Genetics
Dr. Jeffrey E. Ming, MD
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Jeffrey Ming practices Medical Genetics. He attended Weill Cornell Medical College of Cornell University. Weill Cornell Medical College of Cornell University is ranked 18 in research and 49 in primary care medicine Jeffrey Ming has written publications. He has 46 publications published with PubMed. The lastest paper is: 'Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome.' He is registered with Medicare and accepts Medicare payments.
Publications
- Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).
- Dupilumab improves the molecular signature in skin of patients with moderate-to-severe atopic dermatitis.
- Dupilumab in persistent asthma with elevated eosinophil levels.
- Revision of "A 223-kb De Novo Deletion of PAX9 in a Patient With Oligodontia".
- Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
- Quantification of cerebral cannabinoid receptors subtype 1 (CB1) in healthy subjects and schizophrenia by the novel PET radioligand [11C]OMAR.
- A 223-kb de novo deletion of PAX9 in a patient with oligodontia.
- Genetic syndromic immunodeficiencies with antibody defects.
- Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
- What syndrome is this? Disorganization syndrome.
- TGIF, a gene associated with human brain defects, regulates neuronal development.
- Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.
- Immune abnormalities are a frequent manifestation of Kabuki syndrome.
- Autoimmune disorders in Kabuki syndrome.
- Symptomatic Chiari I malformation in Kabuki syndrome.
- Further delineation of Kabuki syndrome in 48 well-defined new individuals.
- Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.
- Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
- Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.
- Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
- Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population.
- SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
- Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.
- Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
- Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
- Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.
- Holoprosencephaly: from Homer to Hedgehog.
- Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.
- SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.
- Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
- The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
- Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.
- Human developmental disorders and the Sonic hedgehog pathway.
- Skeletal anomalies and deformities in patients with deletions of 22q11.
- Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a du...
- The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
- The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
- Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.
- Syndromes associated with immunodeficiency.
- Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome.
- Immunodeficiency as a component of recognizable syndromes.
- Type I bone morphogenetic protein receptors are expressed on cerebellar granular neurons and a constitutively active form of the type IA receptor induces cerebellar ab...
- Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. ...
- Influence of homeobox B2 antisense oligodeoxynucleotides on the biological characteristics of in vitro cultured primary human umbilical vein endothelial cells.
Schools
Weill Cornell Medical College
Childrens Hospital
Chldns Hospital Of Philadelphia
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Aetna
- Local Value Network EPO
- Local Value Network HMO
- Local Value Network HMO+
- Local Value Network POS+
- Local Value Network PPO
- Regional Pref Network EPO
- Regional Pref Network HMO
- Regional Pref Network HMO+
- Regional Pref Network POS+
- Regional Pref Network PPO
- Blue Card PPO
- Great West Healthcare-Cigna PPO
- Coventry Health America PPO
- First Health (Coventry Health Care) PPO
- Geisinger Health Plan
- Community Blue PPO
- Choice Care PPO
- Medicare MCR
- MultiPlan PPO
- Freedom Plan
- QualCare HMO
- QualCare PPO
- Choice Plus POS
- Options PPO
- Oxford Liberty
- United Healthcare
Education
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Children's Hospital of Philadelphia -
Children's Hospital of Los Angeles -
Weill Cornell Medical College of Cornell University
Hospital
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Doylestown Hospital -
Hospital of the University of Pennsylvania -
Pennsylvania Hospital
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