• Leadership Profile

C. Greg Guyer

• Leadership Profile

Brian R. Mueller

• Leadership Profile

Amy Wireman

• Board Profile

Maykin Ho

• Publication

Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery

Ravi Savarirayan, Melita Irving, Wirginia Maixner, Dominic Thompson, Amaka C Offiah, Daniel JA Connolly, Ashok Raghavan, James Powell, Marcin Kronhardt, George Jeha, Sajda Ghani, Elena Fisheleva, Jonathan RS Day

• Publication

Achondroplasia: a comprehensive clinical review

Richard M. Pauli

• Publication

Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

Julie Hoover-Fong, Moira S. Cheung, Virginia Fano, Lars Hagenas, Jacqueline T. Hecht, Penny Ireland, Melita Irving, Klaus Mohnike, Amaka C. Offiah, Ericka Okenfuss, Keiichi Ozono, Cathleen Raggio, Louise Tofts, Dominique Kelly, Renée Shediac, Wayne Pan, Ravi Savarirayan

• Publication

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

Julie E. Hoover-Fong, Adekemi Y. Alade, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Chengxin Liu, John McGready, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Kerry J. Schulze, Maria Elena Serna, Cory J. Smid, Michael B. Bober

• Publication

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US

Julie E. Hoover-Fong, Kerry J. Schulze, Adekemi Y. Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Chengxin Liu, and John McGready

• Publication

Experiences of children and adolescents living with achondroplasia and their caregivers

Renée Shediac, Olga Moshkovich, Heather Gerould, Rachel Ballinger, Agnes Williams, M. Alex Bellenger, Jennifer Quinn, Julie Hoover-Fong, Klaus Mohnike, Ravi Savarirayan, Dominique Kelly

• Publication

Lifetime Impact Study for Achondroplasia (LISA): Findings from an observational and multinational study focused on health-related quality of life in individuals with achondroplasia in Latin America

Juan Llerena Jr, Pablo Rosselli, Amanda Aragao, Cristina Valenzuela, Debora Bertola, Yaneth Mendez, Mariana del Pino, Nicolette Calvacanti, Paula Thomazinho, Jeanne M. Pimenta, Shelda Cohen, Tom Butt, Jose C. Thomaz Jr, Renee Shediac , Richard Rowell, Tatiana S.P.C. Magalhaes, Chong Kim, Virginia Fano

• Publication

Two-Year Outcomes of Valoctocogene Roxaparvovec Therapy for Hemophilia A

Johnny Mahlangu, M.B., B.Ch., M.Med., Radoslaw Kaczmarek, Ph.D., Annette von Drygalski, M.D., Pharm.D., Susan Shapiro, M.D., Ph.D., Sheng-Chieh Chou, M.D., Margareth C. Ozelo, M.D., Ph.D., Gili Kenet, M.D., Flora Peyvandi, M.D., Ph.D., Michael Wang, M.D., Bella Madan, M.D., Nigel S. Key, M.D., Michael Laffan, D.M., Ph.D., et al., for the GENEr8-1 Trial Group*

• Publication

Valoctogene Roxaparvovec Gene Therapy for Hemophilia A

Margareth C. Ozelo, M.D., Ph.D., Johnny Mahlangu, M.B., B.Ch., M.Med., K. John Pasi, M.D., Ph.D., Adam Giermasz, M.D., Ph.D., Andrew D. Leavitt, M.D., Michael Laffan, M.D., Ph.D., Emily Symington, M.D., Doris V. Quon, M.D., Ph.D., Jiaan-Der Wang, M.D., Ph.D., Kathelijne Peerlinck, M.D., Ph.D., Steven W. Pipe, M.D., Bella Madan, M.D., et al., for the GENEr8-1 Trial Group*

• Publication

Persostence of haemostatic response following gene therapy with valoctocogene roxaparvovec in severe hemophilia A

K John Pasi, Michael Laffan, Savita Rangarajan, Tara M Robinson, Nina Mitchell, Will Lester, Emily Symington, Bella Madan, Xinqun Yang, Benjamin Kim, Glenn F Pierce, Wing Yen Wong

• Publication

Interindividual variability in transgene mRNA and protein production following adeno-associated virus gene therapy for Hemophilia A

Sylvia Fong, Bridget Yates, Choong-Ryoul Sihn, Aras N. Mattis, Nina Mitchell, Su Liu, Chris B. Russel, Benjamin Kim, Adebayo Lawal, Savita Rangarajan, Will Lester, Stuart Bunting, Glenn F. Pierce, K. John Pasi and Wing Yen Wong

• Publication

Real-World Rates of Bleeding, Factor VIII Use, and Quality of Life in Individuals with Severe Haemophilia A Receiving Prophylaxis in a Prospective, Noninterventional Study

Gili Kenet, Yeu-Chin Chen, Gillian Lowe, Charles Percy, Huyen Tran, Annette von Drygalski, Marc Trossaert, Mark Reding, Johannes Oldenburg, Maria Eva Mingot-Castellano, Young-Shil Park, Flora Peyvandi, Margareth C. Ozelo, Johnny Mahlangu, Jennifer Quinn, Mei Huang, Divya B. Reddy, Benjamin Kim

• Publication

Molecular analysis of AAV5-hFVIII-SQ vector-genome-processing kinetics in transduced mouse and nonhuman primate livers

Choong-Ryoul Sihn, Britta Handyside, Su Liu, Lening Zhang, Ryan Murphy, Bridget Yates, Lin Xie, Richard Torres, Chris B. Russel, Charles A. O’Neill, Erno Pungor, Stuart Bunting, Sylvia Fong.

• Publication

Vector genome loss and epigenetic modifications mediate decline in transgene expression of AAV5 vectors produced in mammalian and insect cells

Britta Handyside, Ashrafali Mohamed Ismail, Lening Zhang, Bridget Yates, Lin Xie, Choong-Ryoul Sihn, Ryan Murphy, Taren Bouwman, Chan Kyu Kim, Rolando De Angelis, Omair A Karim, Nicole L McIntosh, Michael Xavier Doss, Shilpa Shroff, Erno Pungor, Vikas S Bhat, Sherry Bullens, Stuart Bunting, Sylvia Fong

• Publication

Validation of an IFN-gamma ELISpot assay to measure cellular immune responses against viral antigens in non-human primates

Fan Yang, Kathryn Patton, Theresa Kasprzyk, Brian Long, Soumi Gupta, Stephen J Zoog, Kristin Tracy, Chrstian Vettermann

• Publication

Activity of transgene-produced B-domain–deleted factor VIII in human plasma following AAV5 gene therapy

Steffen Rosen, Stefan Tiefenbacher, Mary Robinson, Mei Huang, Jaydeep Srimani, Donnie Mackenzie, Terri Christianson, K. John Pasi, Savita Rangarajan, Emily Symington, Adam Giermasz, Glenn F. Pierce, Benjamin Kim, Stephen J. Zoog, Christian Vettermann