Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

by Alexander Asamoah, Sainan Wei, Kelly E. Jackson, Joseph H. Hersh, Harvey Levy
Published 2021-07-01

Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1

by Tamer Mansour, Sainan Wei, Michael Netzloff, Tarek Mohamed, Brian Schutte, Said A. Omar
Published 2015-05-01

Corrigendum to “First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children” [Mol. Genet. Metab. Rep. 2 (2016) 81–84]

by Danika Nadeen Senanayake, Eresha A. Jasinge, Kirit Pindolia, Jithangi Wanigasinghe, Kristin Monaghan, Sharon F. Suchy, Sainan Wei, Subashini Jaysena, Barry Wolf
Published 2017-06-01

First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

by Danika Nadeen Senanayake, Eresha. A. Jasinge, Kirit Pindolia, Jithangi Wanigasinghe, Kristin Monaghan, Sharon F. Suchy, Sainan Wei, Subashini Jaysena, Barry Wolf
Published 2015-03-01

A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools

by Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid, Piero Rinaldo
Published 2021-04-01