Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States A Kwan, RS Abraham, R Currier, A Brower, K Andruszewski, JK Abbott, ... Jama 312 (7), 729-738, 2014 | 726 | 2014 |
The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021 | 724 | 2021 |
CYP4F2 genetic variant alters required warfarin dose MD Caldwell, T Awad, JA Johnson, BF Gage, M Falkowski, P Gardina, ... Blood, The Journal of the American Society of Hematology 111 (8), 4106-4112, 2008 | 657 | 2008 |
Quantitative-trait locus for specific language and reading deficits on chromosome 6p J Gayán, SD Smith, SS Cherny, LR Cardon, DW Fulker, AM Brower, ... The American Journal of Human Genetics 64 (1), 157-164, 1999 | 392 | 1999 |
Newborn sequencing in genomic medicine and public health JS Berg, PB Agrawal, DB Bailey, AH Beggs, SE Brenner, AM Brower, ... Pediatrics 139 (2), 2017 | 231 | 2017 |
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11 WJ Kimberling, CG Möller, S Davenport, IA Priluck, PH Beighton, ... Genomics 14 (4), 988-994, 1992 | 197 | 1992 |
Prediction of early‐onset asthma in genetically at‐risk children DA Mrazek, M Klinnert, PJ Mrazek, A Brower, D McCormick, B Rubin, ... Pediatric Pulmonology 27 (2), 85-94, 1999 | 142 | 1999 |
Electronic medical record, library of electronic medical records having polymorphism data, and computer systems and methods for use thereof L Fors, R Ganske, A Brower, W Ziarno US Patent App. 09/929,135, 2003 | 71 | 2003 |
Primary immune deficiency treatment consortium (PIDTC) report LM Griffith, MJ Cowan, LD Notarangelo, DB Kohn, JM Puck, SY Pai, ... Journal of allergy and clinical immunology 133 (2), 335-347. e11, 2014 | 66 | 2014 |
Long-term follow-up in newborn screening: a systems approach for improving health outcomes MA Lloyd-Puryear, A Brower Genetics in Medicine 12 (12), S256-S260, 2010 | 43 | 2010 |
Molecular approaches to the genetic analysis of specific reading disability SD Smith, PM Kelley, AM Brower Human biology, 239-256, 1998 | 42 | 1998 |
Committee report: advancing the current recommended panel of conditions for newborn screening NS Green, P Rinaldo, A Brower, C Boyle, D Dougherty, M Lloyd-Puryear, ... Genetics in Medicine 9 (11), 792-796, 2007 | 30 | 2007 |
Including ELSI research questions in newborn screening pilot studies AJ Goldenberg, M Lloyd-Puryear, JP Brosco, B Therrell, L Bush, S Berry, ... Genetics in medicine 21 (3), 525-533, 2019 | 25 | 2019 |
A framework for assessing outcomes from newborn screening: on the road to measuring its promise CF Hinton, CJ Homer, AA Thompson, A Williams, KL Hassell, ... Molecular genetics and metabolism 118 (4), 221-229, 2016 | 24 | 2016 |
Foundation of the Newborn Screening Translational Research Network and its tools for research M Lloyd-Puryear, A Brower, SA Berry, JP Brosco, B Bowdish, MS Watson Genetics in medicine 21 (6), 1271-1279, 2019 | 23 | 2019 |
Reading disability and chromosome 6p21. 3: Evaluation of MOG as a candidate gene SD Smith, PM Kelley, JW Askew, DM Hoover, KE Deffenbacher, J Gayán, ... Journal of learning Disabilities 34 (6), 512-519, 2001 | 19 | 2001 |
The longitudinal pediatric data resource: Facilitating longitudinal collection of health information to inform clinical care and guide newborn screening efforts A Brower, K Chan, M Hartnett, J Taylor International Journal of Neonatal Screening 7 (3), 37, 2021 | 17 | 2021 |
Newborn screening for Duchenne muscular dystrophy: first year results of a population-based pilot MJ Hartnett, MA Lloyd-Puryear, NP Tavakoli, J Wynn, CL Koval-Burt, ... International Journal of Neonatal Screening 8 (4), 50, 2022 | 15 | 2022 |
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy D Gruber, M Lloyd‐Puryear, N Armstrong, M Scavina, NP Tavakoli, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2022 | 13 | 2022 |
Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Committee Report: advancing the current recommended panel of conditions for newborn … NS Green, P Rinaldo, A Brower, C Boyle, D Dougherty, M Lloyd-Puryear, ... Genet Med 9 (11), 792-796, 2007 | 13 | 2007 |