Clinical Director, Whole Exome Sequencing Program, GeneDx

Medical Genetics

Dr. Julie A. Neidich practices Medical Genetics. She went to George Washington University School of Medicine. George Washington University School of Medicine is ranked 67 in research and 0 in primary care medicine Julie Neidich is a published physician. She published 20 publications, including: 'Frontonasal malformation and cloacal exstrophy: a previously unreported association.'

Publications

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• Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.
• Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
• Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence a...
• Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
• Deletion of 2p: a cytogenetic and clinical update.
• Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
• "Baby rattle" pelvis dysplasia.
• Frontonasal malformation and cloacal exstrophy: a previously unreported association.
• Should all pregnant patients be offered prenatal diagnosis regardless of age?
• The association of cleft lip and palate with Aicardi syndrome.
• Midline defects of the orofaciodigital syndrome type VI (Váradi syndrome).
• Complete nasal agenesis with bilateral microphthalmia and unilateral duplication of the thumb.
• Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18.
• Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities.
• Clonal analysis of solitary follicular nodules in the thyroid.
• Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.
• X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome.
• Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.
• Maternal glutaric acidemia, type I identified by newborn screening.

Schools

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• George Washington University School of Medicine And Health Sciences

Doctors Specialties

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• Clinical Biochemical Genetics
• Clinical Cytogenetics
• Clinical Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

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Education

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• Children's Hospital of Philadelphia
• Albert Einstein College of Medicine
• George Washington University School of Medicine

Hospital

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• Stanford Health Care

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