Associate Professor, Human Genetics, Emory University School of Medicine
Medical Genetics
Dr. Paul M. Fernhoff, MD
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Paul M. Fernhoff practices Medical Genetics. Paul Fernhoff is also a published physician. He has 72 publication published. The most recent publication is: Congenital hypothyroidism and associated birth defects: implications for investigators and clinicians.
Publications
- Source document verification in the Mucopolysaccharidosis Type I Registry.
- Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study.
- Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
- Maternal and neonatal vitamin B12 deficiency detected through expanded newborn screening--United States, 2003-2007.
- Duarte galactosemia: how sweet is it?
- Social-adaptive and psychological functioning of patients affected by Fabry disease.
- Newborn screening for genetic disorders.
- High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
- Heparin cofactor II-thrombin complex: a biomarker of MPS disease.
- Diagnosis of Fabry disease via analysis of family history.
- Mowat-Wilson syndrome with craniosynostosis: a case report.
- Mosaic trisomy 4: Long-term outcome on the first reported liveborn.
- A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.
- No pains, many gains.
- Paying for children to participate in research: a slippery slope or an enlightened stairway?
- Malformations of the brain: a neglected source of basic knowledge on the development of cerebral structure and function. Yakolev P I. J Pediatr 1952;40:626-7.
- Barriers to successful dietary control among pregnant women with phenylketonuria.
- Newborn bloodspot screening for lysosomal storage disorders.
- Creating genetics-based infusion centers: a case study of two models.
- Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
- Long-term developmental outcomes of children identified through a newborn screening program with a metabolic or endocrine disorder: a population-based approach.
- X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.
- An evaluation of the use of dried blood spots from newborn screening for monitoring the prevalence of cocaine use among childbearing women.
- Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.
- Follow-up of elevated maternal serum alpha-fetoprotein levels: ultrasonography only or amniocentesis?
- Analysis of benzoylecgonine in dried blood spots by liquid chromatography--atmospheric pressure chemical ionization tandem mass spectrometry.
- Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review.
- Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency.
- Vitamin B12 deficiency in children and adolescents.
- US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Serv...
- The 22q11.2 deletion syndrome: more answers but more questions.
- Is the G985A allelic variant of medium-chain acyl-CoA dehydrogenase a risk factor for sudden infant death syndrome? A pooled analysis.
- Monitoring the prevalence of congenital hypothyroidism for 20 years near the Savannah River site.
- Congenital hypothyroidism and associated birth defects: implications for investigators and clinicians.
- Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndrome.
- Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.
- Elevated maternal serum human chorionic gonadotropin increases the chance of adverse pregnancy outcome.
- Dye use during amniocentesis and birth defects.
- Corneal opacities in spondyloepiphyseal dysplasia tarda.
- Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: relevance for prenatal diagnosis.
- Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.
- Dominant polysyndactyly: a report of two families.
- Association of D/D translocations with fetal wastage and aneuploidy. A report of four families.
- Letter: Alpha-fetoprotein as predictor of fetal neural-tube defects.
- Impact of prenatal diagnosis on the birth prevalence of neural tube defects, Atlanta, 1990-1991.
- Acceptance of amniocentesis by low-income patients in an urban hospital.
- Racial differences in the incidence of congenital hypothyroidism.
- Protein and essential amino acid requirements in a child with propionic acidemia.
- Prenatal diagnosis of a de novo non-fluorescent Y chromosome.
- Zinc and copper status of treated children with phenylketonuria.
- The relation between growth velocity and serum somatomedin C concentration.
- The effects of spacing protein intake on nitrogen balance and plasma amino acids in a child with propionic acidemia.
- Coordinated system for comprehensive newborn metabolic screening.
- Zinc status and growth of children undergoing treatment for phenylketonuria.
- Neonatal ethanol withdrawal: characteristics in clinically normal, nondysmorphic neonates.
- Epinephrine deficiency in hypocorticotropic hypopituitary children.
- Craniofacial features of isotretinoin embryopathy.
- Limitations of amniography in the prenatal diagnosis of spina bifida.
- Extraintestinal shigellosis: bacteremia and paroxysmal atrial tachycardia. Shigella sonnei in a three-year-old boy.
- Neonatal neurobehavioral characteristics as correlates of maternal alcohol use during gestation.
- Thiamine response in maple syrup urine disease.
- The effect of volume and duration of prenatal ethanol exposure on neonatal physical and behavioral development.
- Retinoic acid embryopathy.
- Prenatal diagnosis in metropolitan Atlanta and the impact on autosomal trisomies.
- Congenital hypothyroidism: increased risk of neonatal morbidity results in delayed treatment.
- Prenatal diagnosis of 21-hydroxylase deficiency by the complementary deoxyribonucleic acid probe for cytochrome P-450C-21OH.
- Prenatal ascertainment of triploidy by maternal serum alpha-fetoprotein screening.
- Pre- and postnatal diagnosis of trisomy 4 mosaicism.
- Pyruvate carboxylase deficiency: a benign variant with normal development.
- Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992.
- Unique mosaicism of tetraploidy and trisomy 8: clinical, cytogenetic, and molecular findings in a live-born infant.
Schools
Thomas Jefferson University
Children39s Hospital
Emory University
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Children's Hospital of Philadelphia
Hospital
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Emory University Hospital
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