AnneNiehausMD

PubMed

• 2 citations
  A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
  Carolina I Galarreta, Karen Wong, Jason Carmichael, Jeremy Woods, Christina G Tise, Courtney P Verscaj, Kristina P Cusmano-Ozog, Niehaus, A., Schildt, A.> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a NovelVariant.
  Jiajie G Lu, Shweta S Namjoshi, Shawn Tahata, Chung Un Lee, Lin Wang, Erin McDonnell, Melissa Seely, Martin G Martin, Florette K Hazard, Niehaus, A.> ;Pediatric and Developmental Pathology. 2023 Jun 6
• 2 citations
  Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.
  Bryce A Mendelsohn, Bree Zimmerman, Chung U Lee, Melanie A Manning, Kristina P Cusmano-Ozog, Christina G Tise, Niehaus, A.> ;American Journal of Medical Genetics. Part A. 2023 May 1
• 1 citations
  Phenotypic variability in RERE-related disorders and the first report of an inherited variant.
  Jenny Kim, Melanie A Manning, Niehaus, A.> ;American Journal of Medical Genetics. Part A. 2022 Nov 1
• 1 citations
  A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants.
  Caroline E Rassbach, David A Stevenson, Niehaus, A.> ;American Journal of Medical Genetics. Part A. 2022 Aug 1
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