Physician
Medical Genetics
Dr. Jay W. Ellison, MD
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Ellison is an expert in the field of Medical Genetics. He researched medicine at University of California San Francisco School of Medicine. University of California San Francisco School of Medicine is one of the top medical schools in the US. University of California San Francisco School of Medicine has a rank of 3 in research and a 3 in primary care Jay W. Ellison is a published doctor. He has 44 papers published. The most current publication "PHOG, a candidate gene for involvement in the short stature of Turner syndrome."
Publications
- Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.
- Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.
- Mouse model implicates GNB3 duplication in a childhood obesity syndrome.
- Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays.
- Investigation of NRXN1 deletions: Clinical and molecular characterization.
- A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations.
- Genetic basis of intellectual disability.
- Retinal mosaicism in a girl with an X-Y translocation.
- Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
- Response to the letter by Collins and Schimke.
- Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
- Evidence of genetic locus heterogeneity for familial bicuspid aortic valve.
- The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
- Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and b...
- Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies.
- Gene symbol: CHD7. Disease: CHARGE syndrome.
- PHOG, a candidate gene for involvement in the short stature of Turner syndrome.
- The Ant1 gene maps near Klk3 on proximal mouse chromosome 8.
- Commentary on "Current concepts in the diagnosis and management of vascular Ehlers-Danlos syndrome".
- Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene.
- Hypermanganesemia, hereditary hemorrhagic telangiectasia, brain abscess: the hepatic connection.
- Rapid evolution of human pseudoautosomal genes and their mouse homologs.
- Genetic mapping of the adenine nucleotide translocase-2 gene (Ant2) to the mouse proximal X chromosome.
- Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome.
- Novel human pathological mutations. Gene symbol: SLC34A2. Disease: pulmonary alveolar microlithiasis.
- Characterization of a YAC contig spanning the pseudoautosomal region.
- Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.
- Novel human pathological mutations. Gene symbol: VHL. Disease: Von Hippel-Lindau syndrome.
- Novel human pathological mutations. Gene symbol: DCX. Disease: double cortex syndrome.
- Novel human pathological mutations. Gene symbol: COL1A1. Disease: osteogenesis imperfecta.
- Novel human pathological mutations. Gene symbol: ACVRL1. Disease: haemorrhagic telangiectasia 2.
- Novel human pathological mutations. Gene symbol: PTEN. Disease: PTEN Hamartoma Tumour Syndrome.
- Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome.
- Novel human pathological mutations. Gene symbol: JAG1. Disease: Allagille syndrome.
- Gene symbol: NSD1. Disease: Sotos syndrome.
- Gene symbol: NR0B1.
- Structure and expression of the human pseudoautosomal gene XE7.
- Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic.
- Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.
- Subglottic stenosis in short-statured children: a case for further investigation of airway symptoms in patients with skeletal dysplasias.
- Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB...
- Molecular characterization of a ring X chromosome in a male with short stature.
- A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy.
Schools
University Of California San Francisco School Of Medicine
Harbor UCLA Med Center
Doctors Specialties
- Clinical Genetics
- Clinical Molecular Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Harbor - UCLA Medical Center -
University of California San Francisco School of Medicine
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