Professor, Pediatrics, University of Louisville School of Medicine
Medical Genetics
Dr. Joseph Hersh, MD
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Joseph Hersh works in the field of Medical Genetics. He went to medical school at University of Missouri-Columbia School of Medicine. Joseph Hersh, MD is a published MD. He has 76 publications published. The most current publication "Brief report: the association of neurofibromatosis type 1 and autism."
Publications
- Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.
- Hypophosphatasia: Non-lethal disease despite skeletal presentation In Utero (seventeen new cases and literature review).
- Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
- Aggressive osteoblastoma: a case report involving a unique chromosomal aberration.
- Fetal alcohol spectrum disorders (FASD): what medical professionals need to know.
- Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
- Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study.
- Chromosome 20q deletion and progression to monosomy 7 in a patient with Shwachman-Diamond syndrome without MDS/AML.
- Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome.
- Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes.
- Developmental field defects: coming together of associations and sequences during blastogenesis.
- Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.
- Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.
- Effects of temperature and snowfall on mortality in Pennsylvania.
- Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association.
- Toluene embryopathy.
- Sternal malformation/vascular dysplasia association.
- Metacarpophalangeal pattern profile analysis in Sotos syndrome.
- Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency.
- Low-dose intravenous insulin infusion versus subcutaneous insulin injection: a controlled comparative study of diabetic ketoacidosis.
- Meningococcal group Y pneumonia in an adolescent female.
- Cognition in cerebral gigantism: are the estimates of mental retardation too high?
- Syndrome identification case report 94: fetal ascites and multiple congenital defects.
- The surgical management of the upper extremity anomalies associated with Du Pan syndrome.
- Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.
- Childhood Autism in a female with Coffin Siris Syndrome.
- A non-trophoblastic tumor co-existing with a triploid fetus.
- Behavioral correlates in the happy puppet syndrome: a characteristic profile?
- Pigmentary retinopathy, hearing loss, mental retardation, and dysmorphism in sibs: a new syndrome?
- Michel's anomaly, type I microtia and microdontia.
- A clinical and molecular study of mosaicism for trisomy 17.
- Pre-stem cell transplantation enzyme replacement therapy in Hurler syndrome does not lead to significant antibody formation or delayed recovery of the endogenous enzym...
- Urethral obstruction sequence and lower limb deficiency: evidence for the vascular disruption hypothesis.
- Gonadal and müllerian duct agenesis in a girl with 46,X,i(Xq).
- Partial duplication of the face: case report and review.
- Rothmund-Thomson syndrome: a case report.
- Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome?
- Trichothiodystrophy and associated anomalies: a variant of SIBIDS or new symptom complex?
- Humero-radio-ulnar synostosis: a new case and review.
- Otocephaly-midline malformation association.
- The impact of major congenital malformations on mortality in a neonatal intensive care unit.
- A male with fetal valproate syndrome and autism.
- Computed tomography of the head in the evaluation of microcephaly.
- Ivemark's "asplenia" syndrome: a single gene disorder.
- Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue.
- Toluene embryopathy: two new cases.
- Brief report: the association of neurofibromatosis type 1 and autism.
- Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome.
- Teschler-Nicola/Killian syndrome: a case report.
- A case of familial XY gonadal dysgenesis.
- Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.
- Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.
- Monozygotic twins concordant for Rubinstein-Taybi syndrome and implications for genetic counseling.
- The role of genetic counseling in visually impaired adolescents.
- Natal teeth in monozygotic twins with Van der Woude syndrome.
- Mirror image duplication of the hands and feet: report of a sporadic case with multiple congenital anomalies.
- Microcephalic osteodysplastic dysplasia.
- The oligohydramnios tetrad: its impact on genetic counseling.
- Risk of malignancy in Sotos syndrome.
- Tetraploidy: a report of three live-born infants.
- Predictive value of fetal ultrasonography in the diagnosis of a lethal skeletal dysplasia.
- Mild intellectual deficits in a child with 49,XXXXY.
- Fetal valproate syndrome and autism: additional evidence of an association.
- De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
- Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality.
- 20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder.
- Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review.
- Anophthalmia, intracerebral cysts, and cleft lip/palate: expansion of the phenotype in oculocerebrocutaneous syndrome?
- XY gonadal dysgenesis associated with a multiple pterygium syndrome phenotype.
- Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.
- Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
- Changing phenotype in Floating-Harbor syndrome.
- Case of partial duplication 2q3 with characteristic phenotype: rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion.
- Health supervision for children with fragile X syndrome.
- Health supervision for children with neurofibromatosis.
Schools
Chldns Hospital
University Of Connecticut Health Center
Doctors Specialties
- Neurodevelopmental Disabilities
- Medical Genetics
Accepted Insurances
Education
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University of Connecticut -
Cincinnati Children's Hospital Medical Center -
University of Missouri-Columbia School of Medicine
Hospital
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Norton Hospital -
Kosair Children's Hospital
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