Julie A. Neidich, MD

Julie A. Neidich, MD

Professor, Pathology & Immunology
Pediatrics, Division of Genetics and Genomics

Division

  • Genomic & Molecular Pathology

Additional Titles

  • Medical Director, Clinical Genomics/Cytogenetics and Molecular Pathology Core Lab
  • Medical Director (Former), Cytogenetics & Molecular Pathology Lab
  • Medical Director (Former), Molecular Diagnostic Lab

Education

  • BA, Natural Sciences: Bennington College, Bennington, VT (1976)
  • MD: George Washington School of Medicine, Washington, DC (1983)
  • Residency, Pediatrics: Albert Einstein College of Medicine-Montefiore Medical Center, Bronx, NY (1986)
  • Fellowship, Medical Genetics: Children’s Hospital of Philadelphia/University of Pennsylvania, Philadelphia, PA (1989)

Board Certifications

  • National Board of Medical Examiners, Licensure Examination
  • American Board of Pediatrics, Diplomate in Pediatrics
  • American Board of Medical Genetics and Genomics, Diplomate in Clinical Genetics
  • American Board of Medical Genetics and Genomics, Diplomate in Clinical Biochemical and Molecular Genetics
  • American Board of Medical Genetics and Genomics, Diplomate in Clinical Cytogenetics
  • NY State Certificate of Qualification in Genetic Testing and Cytogenetics

Recognition

  • Outstanding Professor of the Interdepartmental Faculty, Department of Gynecology and Obstetrics, Stanford University, Stanford, CA (1998)
  • New Jersey State Newborn Screening Program Metabolic Consultant (2001-2003)
  • California State Newborn Screening Program Guidelines Committee (2007-2011)
  • IOM Workgroup on Genomic-Based Health Care-Reviewer (2009)
  • CLIAC Biochemical Genetics Testing Workgroup (2009-2010)
  • Program Committee, Newborn Screening Meeting, Association of Public Health Laboratories, San Diego, CA (2011)
  • Session organizer and Moderator, Integrating Exome Sequencing into Clinical Practice, ACMG Annual Meeting, Phoenix, AZ (2013)
  • Awards Committee, American Society of Human Genetics (2020-2025)
  • Outstanding Achievement in Quality Improvement Award, 2021 P&I Awards Ceremony
  • the Government Affairs and Advocacy Committee, American College of Medical Genetics and Genomics

Clinical Interests

  • Phenotype-genotype correlations
  • Whole exome and whole genome sequencing
  • Neurogenetics
  • Dysmorphology and morphogenesis
  • Biochemical genetics

Research Interests

Dr. Neidich’s research is focused on genetics and genomics, clinical correlations of genomics and cytogenomics findings, identification of candidate genes for human disorders, and biochemical genetics.

Selected Publications

PubMed Search

Meynard G, Mansi L, Lebahar P, Villanueva C, Klajer E, Calcagno F, Vilalta A, Chaix M, Collonge-Rame MA, Populaire C, Algros MP, Colpart P, Neidich J, Pivot X, Curtit E. First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report. Oncology Reports 2017; 37(3):1573-1578.
Chen AY, Braunstein GD, Anselmo MS, Jaboni JA, Viloria FT, Neidich JA, Li X, Kammescheidt A. Mutation detection with a liquid biopsy 96 mutation assay in cancer patients and healthy donors. Cancer Translational Medicine 2017; 3(2):39-45.
Retterer K, Juusola J, Cho M, Vitazka P, Millan F, Gibellini F, Vertino Bell A, Smaoui N, Neidich J, Monaghan K, McKnight D, Bai R, Suchy S, Friedman B Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S. clinical applications of whole exome sequencing across clinical indications. Genetics in Medicine 2015 Dec3.doi:10.1038/gim.2015.148.
Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger M, Chung WK, Elpeleg O, Edvardson S. Mutations in SLC1A4, encoding the brain serine transporter, associated with developmental delay, microcephaly and hypomyelination. Journal of Medical Genetics 2015; online doi:10.1136/jmedgenet-2015-103104.
Scheuerle AE, Picconi JL, Neidich J, Panny S, Plecher BA, Randolph LM, Trapane P, Trotter TL. The childless man. American Journal of Medical Genetics Part A 2014; 164; 561.
Rohena L, Neidich J, Truit Cho M, Gonzalez K, Tang S, Devinsky O, Chung WK. Mutation in SNAP-25 as a novel cause of epilepsy and intellectual disability. Rare Diseases 2013; 1:e26314-1-6.
Lam C, Carter J, Cederbaum S, Neidich J, Gallant NM, Lorey F, Feuchtbaum L, Wong D. Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. Mol Genet Metab 2013; 110:477-83.
Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Levy P, Wong LJ, Dezsofi A. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. Mol Genet Metab 2012; 106:439-41.
Strom CM, Bonilla-Guerrero R, Zhang K, Doody KJ, Tourgeman D, Alvero R, Cedars M, Crossley B, Pandian R, Sharma R, Neidich J, Salazar D. The sensitivity and specificity of hyperglycolsylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer. J Assist Reprod Genet 2012; 29:609-14.
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab 2012; 106:55-61.
Unal ER, Lynn T, Neidich J, Salazar D, Goetzl L, Baatz JE, Hulsey TC, Van Dolah R, Guillette LJ, Newman R. Racial disparity in maternal and fetal-cord bisphenol A concentrations. J Perinatol 2012; doi:10.1038/jp.2012.12.

Assistant:
Dani Salazar
314-362-2975
sdaniela@wustl.edu