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Topic
- Cardiac System
- Clinical Case Report
- Diagnostic Development
- Disease Discovery
- Endocrine System
- Endophenotype
- Genomic Testing
- Hearing
- Hepatic System
- Immune System
- Laboratory
- Metabolic
- Mitochondrial
- Natural History
- Neurologic System
- Ocular System
- Opinion
- Pathophysiology
- Population Genetics
- Psychiatry
- Public Health
- Pulmonology
- Renal System
- Review
- Skeletal System
- Therapy
- Year
Papers Published in 2025
Authors: Riccardo Castagnoli, Francesca Pala, Poorani Subramanian, Cihan Oguz, Benjamin Schwarz, Ai Ing Lim, Andrew S. Burns, Elena Fontana, Marita Bosticardo, Cristina Corsino, Angelina Angelova, Ottavia M. Delmonte, Heather Kenney, Deanna Riley, Grace Smith Lisa Ott de Bruin, Lisa Ott de Bruin, Vasileios Oikonomou, Lucas Dos Santos Dias, Danielle Fink, Eric Bohrnsen, Cole D. Kimzey, Gian Luigi Marseglia, Guisela Alva-Lozada, Jenna R.E. Bergerson, Ana Brett, Karlla W. Brigatti, Dimana Dimitrova, Cullen M. Dutmer, Alexandra F. Freeman, Hanadys Ale, Steven M. Holland, Francesco Licciardi, Srdjan Pasic, Laura E. Poskitt, David E. Potts, Joseph F. Dasso, Svetlana O. Sharapova, Kevin A. Strauss, Brant R. Ward, Melis Yilmaz, Douglas B. Kuhns, Michail S. Lionakis, Stephen R. Daley, Heidi H. Kong, Julia A. Segre, Anna Villa, Stefania Pittaluga, Jolan E. Walter, Ivan Vujkovic-Cvijin, Yasmine Belkaid, Luigi D. Notarangelo
Authors: Bradley R. Miller, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Job de Jong, Robert S. Breese, Seung Yeon Ko, Erik G. Puffenberger, Cristopher Van Hout, Millie Young, Victor M. Luna, Jeffrey Staples, Michael B. First, Hilledna J. Gregoire, Andrew J. Dwork, Evangelos Pefanis, Shane McCarthy, Susannah Brydges, Jose Rojas, Bin Ye, Eli Stahl, Silvio Alessandro Di Gioia, Rene Hen, Kevin Elwood, Gorazd Rosoklija, Dadong Li, Scott Mellis, David Carey, Susan D. Croll, John D. Overton, Lynn E. Macdonald, Aris N. Economides, Alan R. Shuldiner, Nao Chuhma, Stephen Rayport, Najaf Amin, Steven A. Kushner, Nicole Alessandri-Haber, Sander Markx, Kevin A. Strauss
Authors: Jiaming Wang, Laura E. Poskitt, Jillian Gallagher, Erik G. Puffenberger, R. Max Wynn, Gauri Shisodia, David T. Chuang, Jonathan Beever, Donald L. Hardin, Karlla W. Brigatti, William C. Baker, Rachael Gately, Stephanie Bertrand, Ashlin Rodrigues, Hector R. Benatti, Toloo Taghian, Erin Hall, Rachel Prestigiacomo, Jialing Liang, Gong Chen, Xuntao Zhou, Lingzhi Ren, Nan Liu, Ran He, Qin Su, Jun Xie, Zhong Jiang, Alisha Gruntman, Heather Gray-Edwards, Guangping Gao, Kevin A. Strauss, Dan Wang
Support our mission of providing compassionate, affordable, and efficient care to families facing rare genetic disorders!
Our clinic serves as a trusted medical practice for children and adults facing rare genetic disorders. Our dedicated team works every day to prevent and treat genetic illnesses. Our facility is in the heart of the Amish and Mennonite communities in Lancaster County. Inside is filled with cutting-edge gene sequencing tools that allow us to deliver highly personalized care—a precise treatment option for the right patient at the right time.