Morton S. and Henrietta K. Sellner Professor of Human Genetics; Professor of Pediatrics and Communicable Diseases; Director, Division of Pediatric Genetics, Metabolism and Genomic Medicine; Professor and Section Chief, Internal Medicine Division of Molecu
Medical Genetics
Dr. Jeffrey W. Innis, MD
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Jeffrey W. Innis, MD is an expert in the field of Medical Genetics. He researched medicine at University of Miami Miller School of Medicine. University of Miami Miller School of Medicine has a rank of 45 in research and a 0 in primary care Doctor Jeffrey W. Innis, MD is a published doctor. He published 81 publications, including: 'Limb development: molecular dysmorphology is at hand!'
Publications
- De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
- Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
- Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malforma...
- Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.
- A Novel Intergenic ETnII-β Insertion Mutation Causes Multiple Malformations in Polypodia Mice.
- Human HOX gene disorders.
- Analysis of De Novo HOXA13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation.
- Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.
- Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion ...
- Personalized oncology through integrative high-throughput sequencing: a pilot study.
- Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia.
- Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
- Campomelic dysplasia: airway management in two patients and an update on clinical-molecular correlations in the head and neck.
- Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.
- Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome.
- Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.
- BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
- A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
- Expanded HOXA13 polyalanine tracts in a monotreme.
- BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud.
- Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.
- A group 13 homeodomain is neither necessary nor sufficient for posterior prevalence in the mouse limb.
- Description and genetic mapping of Polypodia: an X-linked dominant mouse mutant with ectopic caudal limbs and other malformations.
- Craniofacial dyssynostosis in two boys with apparently normal cognitive development.
- TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
- Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported Cd...
- Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
- Candidate downstream regulated genes of HOX group 13 transcription factors with and without monomeric DNA binding capability.
- Range of HOX/TALE superclass associations and protein domain requirements for HOXA13:MEIS interaction.
- Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome.
- Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long-range enhancer existed before cluster duplication.
- Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
- Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features.
- Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
- Integrative biology and the developing limb bud.
- Possible third case of Lin-Gettig syndrome.
- A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
- Priming the search for HOX mutations.
- A genomic approach to the identification and characterization of HOXA13 functional binding elements.
- A mouse transgene drives embryonic dorsal posterior commissure expression.
- Group 13 HOX proteins interact with the MH2 domain of R-Smads and modulate Smad transcriptional activation functions independent of HOX DNA-binding capability.
- Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis.
- Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.
- The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation.
- Orientation of the Hoxa complex and placement of the Hd locus distal to Hoxa2 on mouse chromosome 6.
- Mutation of HOXA13 in hand-foot-genital syndrome.
- Evolution of N-terminal sequences of the vertebrate HOXA13 protein.
- A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
- Severe limb defects in Hypodactyly mice result from the expression of a novel, mutant HOXA13 protein.
- Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
- Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia.
- Identification and prevention of a GC content bias in SAGE libraries.
- A comparative molecular analysis of developing mouse forelimbs and hindlimbs using serial analysis of gene expression (SAGE).
- Two highly polymorphic CA repeats in the Menkes gene (ATP7A).
- High-resolution genetic mapping of the hypodactyly (Hd) locus on mouse chromosome 6.
- Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies.
- Altered Hox expression and increased cell death distinguish Hypodactyly from Hoxa13 null mice.
- Limb development: molecular dysmorphology is at hand!
- An efficient method for isolating putative promoters and 5'-transcribed sequences from large genomic clones.
- Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
- Role of HOX genes in human development.
- eSAGE: managing and analysing data generated with serial analysis of gene expression (SAGE).
- Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.
- Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth.
- Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.
- Sequence requirements for transcriptional arrest in exon 1 of the human adenosine deaminase gene.
- Building arms or legs with molecular models.
- The murine adenosine deaminase promoter requires an atypical TATA box which binds transcription factor IID and transcriptional activity is stimulated by multiple upstr...
- MeCP2 mutations in children with and without the phenotype of Rett syndrome.
- Familial syndromic esophageal atresia maps to 2p23-p24.
- Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures.
- A heat-labile factor promotes premature 3' end formation in exon 1 of the murine adenosine deaminase gene in a cell-free transcription system.
- Functional analysis of a stable transcription arrest site in the first intron of the murine adenosine deaminase gene.
- Familial large vestibular aqueduct syndrome.
- Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
- Of fingers, toes and penises.
- DNA replication and chromatin structure of simian virus 40 insertion mutants.
- Chromatin structure of simian virus 40-pBR322 recombinant plasmids in COS-1 cells.
- Role of specific simian virus 40 sequences in the nuclease-sensitive structure in viral chromatin.
Schools
University of Miami School of Medicine
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Choice Plus POS II
- Amerigroup (Wellpoint)
- Blue Card PPO
- Blue Cross Blue Shield of Illinois PPO
- Group Employees PPO
- CareSource
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- Open Access Plus
- Cofinity PPO
- Commercial Insurance Company
- CoreSource
- Coventry Health Care
- First Health (Coventry Health Care) PPO
- Golden Rule
- GEHA
- Health Alliance
- Preferred PPO
- Harvard Pilgrim Health Care PPO
- Choice Care PPO
- Medicaid
- Medicare MCR
- Molina
- MultiPlan PPO
- PHCS Network PPO
- NGS CoreSource
- Paramount
- PHP-Physicians Health Plan
- Tricare
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- United Healthcare
Education
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Baylor College of Medicine -
University of Miami Miller School of Medicine
Hospital
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University of Michigan Hospitals and Health Centers
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