Sara L. Reichert, MS, MPH, CGC

Papers

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

Posters and Presentations

2021

Elise Brimble, Geoffrey Beek, Sara Reichert, Brianny Murray, Virginie McNamar, Alexandra Berk. “A novel platform characterization of SYNGAP-1 related disorder through generation of real-world evidence.” Poster Presentation. American Epilepsy Society, Chicago, IL, December 2021.

Marie Morimoto, Mariska Davids1, Patricia M. Zerfas, Vikas Bhambhani, Anna Lehman, Jennifer L. Murphy, Ellen Macnamara, Camille Wang, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, Wendy J. Introne, William A. Gahl1,, Cynthia J. Tifft, May C. V. Malicdanl.  “Bi-Allelic variants in the autophagy gene ATG4D are associated with a pediatric neurological disorder characterized by hypotonia, dysarthria, impaired coordination, and gait abnormalities.”.  Poster Presentation. American Society of Human Genetics Annual Meeting, October 2021.

Julie Bayer-Vile, Tahnee Causey, Sara L. Reichert.  “Determining Which Referral Laboratory to Utilize: Implementing Genetic Counselor’s Experiences in Developing a Preferred Laboratory”.  Poster Session. National Society of Genetic Counselors Annual Education Meeting. September 2021.

Shanda Berry, Tahnee Causey, Genevieve Beard, Sara L. Reichert. “The impact of WES results on parental perceptions of changes in their child’s medical management and referral adherence at an interdisciplinary academic medical center” Poster Session. National Society of Genetic Counselors Annual Education Meeting. September 2021.

Reichert, Sara L.  “Genetic Counseling: The Most Interesting Career that you have probably never heard of”.  Marshall University Invited Speaker. Huntington, WV April 2021.  

Reichert, Sara L.  “Genetic Counseling: The Most Interesting Career that you have probably never heard of”.  Concord University Invited Speaker.  Concord, WV  March 2021, October 2021, anticipated April 2022.  

Brimble, Elise; Beek, Geoffrey; Wilson, Lisa; Muirhead, Kayla; Reichert, Sara; Berk, Alexandra. “Pilot Study of a novel patient-facing medical records collection platform to support real world data generation in rare disease.”  Poster Session. International Society for Pharmacoeconomics and Outcomes Research Annual Conference, May 2021.

2020

Barnhart, Joshua; Causey, Tahnee, Reichert, Sara L.  “Genetic Counselors' Perspectives on Proactive Genetic Testing.”  Poster Session.  National Society of Genetic Counselors Annual Education Meeting, Nashville, TN, November 2020.

Reichert, Sara L; Al Saif, Hind; Hansen, Brittany P; Quinonez, Shane; Hipp, Lauren.  “Incomplete penetrance of thoracic aortic aneurysm in a family with a PRKG1 variant.”  American College of Medical Genetics, Poster Session.  San Antonio, TX.  March 2020.

Rachel Li, Sara Reichert, Hind Al Saif.  “A case of GM1 Gangliosidosis and Schindler disease found in a single patient.”   Society for Inherited Metabolic Diseases Annual Meeting, Austin Texas.  March 2020. 

Dawn Peck, Sarah Viall, Sara Reichert, Rachel Fisher, Linda Spencer, Michelle Tharp, Randi Gadea, Meghan Strenk, Amy White, Gessi Bentz Pino, April Studinski, Devin Oglesbee, Dimitar Gavrilov, Piero Rinaldo, Kimiyo Raymond, Dietrich Matern, Silvia Tortorelli.  “An Effective and Unique Second Tier Newborn Screening Test for Pompe Disease.”  Society for Inherited Metabolic Diseases Annual Meeting, Austin Texas.  March 2020.