AndreaKlunderPetersenMD

PubMed

• 49 citations
  KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
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• 21 citations
  Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
  Caroline Dias, Jaya Punetha, Céline Zheng, Neda Mazaheri, Abolfazl Rad, Stephanie Efthymiou, Andrea K. Petersen, Mohammadreza Dehghani, Davut Pehlivan, Jennifer N. Par...> ;American Journal of Human Genetics. 2019 Nov 7
• 21 citations
  Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
  Atteeq U. Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al-Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V. Hunter, ...> ;Human Mutation. 2018 Dec 25
• 13 citations
  The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
  Andrea Klunder Petersen, Haley Streff, Mari Tokita, Bret L. Bostwick> ;American Journal of Medical Genetics. Part A. 2018 Jul 1
• 113 citations
  Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
  Andrea K. Petersen, Sau Wai Cheung, Janice L. Smith, Weimin Bi, Patricia A. Ward, Sandra Peacock, Alicia Braxton, Ignatia B. Van den Veyver, Amy M. Breman> ;American Journal of Obstetrics and Gynecology. 2017 Oct 13
• 319 citations
  Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
  D. Williams Parsons, Angshumoy Roy, Yaping Yang, Tao Wang, Sarah Scollon, Katie Bergstrom, Robin A. Kerstein, Stephanie Gutierrez, Andrea K. Petersen, Abhishek Bavle, ...> ;JAMA Oncology. 2016 May 1
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