Sara L. Reichert, MS, MPH, CGC
About Sara L. Reichert, MS, MPH, CGC
Titles
Licensed Genetic Counselor
Certifications
Licensed Certified Genetic Counselor (LCGC)
Awards and Honors
2019, 2021, Outstanding Clinical Supervisor Award, AGCPD, Virginia Commonwealth University Genetic Counseling Program
2012, Delta Omega Outstanding Master’s Thesis Award
2011, Graduate School of Public Health Dean’s Day Poster Winner
2011-present, Delta Omega Honorary Society in Public Health
Leadership and Memberships
Memberships in Professional Organizations
2010-present, National Society of Genetic Counselors
Education & training
Undergraduate Degree
BS in Microbiology - Marshall University, Huntington, WV
Graduate Degree
MS in Genetic Counseling - University of Pittsburgh, Pittsburgh, PA
MPH - University of Pittsburgh, Pittsburgh, PA
Publications
Publications
2021
Marie Morimoto, Vikas Bhambhani4, Noor Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Camille Wang, Emily Alderman, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, Wendy J. Introne, Sharon Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, May C. V. Malicdan. 2021. “Bi-allelic variants in the autophagy gene ATG4D are associated with a pediatric neurological disorder characterized by hypotonia, joint laxity, impaired coordination, and gait abnormalities.” Genomic Medicine, in review.
2020
Sara Chadwick Reichert, Rachel Li, Scott Turner, Richard H. van Jaarsveld, Maarten P.G. Massink, Marie-José H. van den Boogaard, Mireia del Toro, Agustí Rodríguez-Palmero, Stéphane Fourcade, Agatha Schlüter, Aurora Pujol, Maria Iascone, Sylvia Maitz, Lucy Loong, Helen Stewart, Elisa De Franco, Sian Ellard, Raymond Lewandowski. 2020. “HNRNPH1-related syndromic intellectual disability: Six additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.” Clinical Genetics, April 26, online ahead of print.
2018
Katrine M Johannesen, Elena Gardella, Anna-Elina Lehesjoki, Tarja Linnankivi, Caroline Courage, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Anne de Saint Martin, Marie-Thérèse Abi-Warde, Jamel Chelly, Amélie Piton, Lawrence Merritt, Lance Rodan, Wen-Hann Tan, Lynne Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong-Hee Chae, Desiree Czapansky-Beilman), Sara Chadwick Reichert, Manuela Pendziwiat, Judith S Verhoeven, Jurgen Schelhaas, Orrin Devinsky, Jakob Christensen, Boris Keren, Nicola Specchio, Marina Trivisano, Yvonne Weber, Caroline Nava, Diane Doummar, Candace T Myers, Kathrine L Helbig, Ingo Helbig, Guido Rubboli, Heather Mefford, Rikke S Møller. 2018. “Expanding the phenotypic spectrum of SLC6A1 mutations”. Epilepsia, 59(2): 389-402.
2017
Sara Chadwick Reichert, Pedro Gonzalez-Alegre, Gunter H. Scharer. 2017. “Biallelic TOR1A variants in an infant with severe arthrogryposis”. Neurology Genetics, 3(3):e154.
2015
Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Inderneel Sahai, Paulina Bahena, Sara Reichert, Abigail Loh, Graham D. Wright, Jaron Liu, Elisa Rahikkala, Eniko Pivnick, Ulrike Krüger, Tomasz Zemojtel, Conny van Ravenswaaij-Arts, Roya Mostafavi, Irene Stolte-Dijkstra, Sofie Symoens, Leila Pajunen, Lihadh Al-Gazali, David Meierhofer, Peter N. Robinson, Stefan Mundlos, Camilo E. Villarroel, Peter Byers, Amira Masri, Stephen P. Robertson, Ulrike Schwarze, Bert Callewaert, Bruno Reversade, Uwe Kornak. 2015. “Recurrent de novo mutations affecting residue p.Arg138 of pyrroline-5-carboxylate synthase cause a novel progeroid form of autosomal dominant cutis laxa.” American Journal of Human Genetics ;97(3):483-92
Sara Chadwick Reichert, Eileen McKay, Julie S. Moldenhauer. 2015. “Identification of a Novel Nonsense Mutation the FOXP3 gene in a Fetus with Hydrops – Expanding the Phenotype of IPEX Syndrome”. American Journal of Medical Genetics Part A; 170A(1): 226-32.
Rebecca Ahrens-Nicklas, Sara Chadwick Reichert, Elaine H. Zackai, Paige Kaplan. 2015. “Atypical Williams Syndrome in an infant with Complete Atrioventricular Canal Defect”. American Journal of Medical Genetics Part A; 167A(12): 3108-12.
James Radke. “Parents’ Decision Process and Elaprase Treatment”. Rare Disease Report. Published Online Feb 9, 2015. http://www.raredr.com/articles/Parents-Decision-Process-Elaprase-Treament
Sara Chadwick Reichert, Kristin Zelley, Kimberly Nichols, Moriah Eberhard, Elaine Zackai, Juan Martinez-Poyer. 2015. “Diagnosis of 9q22.3 Microdeletion Syndrome In Utero Following Identification of Craniosynostosis, Overgrowth, and Skeletal Anomalies.” American Journal of Medical Genetics, Part A; 167(4):862-865 .
2014
Chadwick S, Ficicioglu C, Fitzgerald K, Weiss B. 2014. “Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience”. Journal of Inherited Metabolic Disease Reports; 14:71-6
2010
Sara L. Chadwick, John W. Wilson, James E. Levin, Judith Martin. 2010. “Cerebrospinal Fluid Characteristics of Infants who Present to the Emergency Department with Fever: Establishing Normal Values by Week of Age.” The Pediatric Infectious Disease Journal; 30(4): e63-7
2008
Yang, Wei; Hood, Brian L; Chadwick, Sara L; Watkins, Simon C; Luo, Guangxiang; Conrads, Thomas L; Wang, Tinyi. 2008. “Fatty Acid Synthase Is Upregulated during HCV Infection and Regulates HCV Entry and Production.” Hepatology; 48(5): 1396-1403