Susan E Waisbren
Harvard University
H-index: 53
North America-United States
Top articles of Susan E Waisbren
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database | Molecular Genetics & Genomic Medicine | Kuntal Sen Rima Izem Yuelin Long Jiji Jiang Laura L Konczal | 2024/4 |
Brain function in classic galactosemia, a galactosemia network (GalNet) members review | Bianca Panis E Naomi Vos Ivo Barić Annet M Bosch Martijn CGJ Brouwers | 2024/2/15 | |
Parent knowledge regarding food selection for children with PKU: Results of a survey in the United States | Nutrition | Rodolfo Ramos-Álvarez Maili Kapp Amaya Bélanger-Quintana María Mercedes Rodríguez-Ruiz César Augusto Solano-Galvis | 2023/12/1 |
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study | Molecular Genetics and Metabolism Reports | Kimberly A Chapman Devon MacEachern Gerald F Cox Mavis Waller Jeanine Fogarty | 2023/3/1 |
Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project | Genetics in Medicine | Stacey Pereira Amanda M Gutierrez Jill Oliver Robinson Kurt D Christensen Casie A Genetti | 2023/3/1 |
Reinstitution of pegvaliase therapy during lactation | Molecular Genetics and Metabolism Reports | Frances Rohr Ann Wessel Cary O Harding Susan E Waisbren Krista Viau | 2022/12/1 |
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments | Susan E Waisbren | 2022/6 | |
Effects of participation in a US trial of newborn genomic sequencing on parents at risk for depression | Journal of genetic counseling | Talia S Schwartz Kurt D Christensen Melissa K Uveges Susan E Waisbren Amy L McGuire | 2022/2 |
Improved attention linked to sustained phenylalanine reduction in adults with early‐treated phenylketonuria | American Journal of Medical Genetics Part A | Deborah A Bilder Georgianne L Arnold David Dimmock Mitzie L Grant Darren Janzen | 2022/3 |
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis | Molecular genetics and metabolism | Susan Waisbren Barbara K Burton Annette Feigenbaum Laura L Konczal Joshua Lilienstein | 2021/2/1 |
Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project: a randomized clinical trial | JAMA pediatrics | Stacey Pereira Hadley Stevens Smith Leslie A Frankel Kurt D Christensen Rubaiya Islam | 2021/11/1 |
Transient developmental delays in infants with Duarte-2 variant galactosemia | Molecular Genetics and Metabolism | Susan E Waisbren Catherine Tran Didem Demirbas Cynthia S Gubbels Margaret Hsiao | 2021/9/1 |
Newborn screening and treatment of phenylketonuria: projected health outcomes and cost-effectiveness | Children | Huey-Fen Chen Angela M Rose Susan Waisbren Ayesha Ahmad Lisa A Prosser | 2021/5 |
Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II | Orphanet Journal of Rare Diseases | Karen S Yee Yanyu Wu Magdalena Harrington Susan E Waisbren | 2021/12 |
System and method for locally correlated spectroscopy for assessing medical discorders | 2021/11/23 | ||
Executive function in phenylketonuria (PKU): Insights from the Behavior Rating Inventory of Executive Function (BRIEF) and a large sample of individuals with PKU. | Neuropsychology | Shawn E Christ Hayley E Clocksin Barbara K Burton Mitzie L Grant Susan Waisbren | 2020/5 |
Quantifying downstream healthcare utilization in studies of genomic testing | Value in Health | Zoë P Mackay Dmitry Dukhovny Kathryn A Phillips Alan H Beggs Robert C Green | 2020/5/1 |
Person ability scores as an alternative to norm-referenced scores as outcome measures in studies of neurodevelopmental disorders | American Journal on Intellectual and Developmental Disabilities | Cristan A Farmer Aaron J Kaat Audrey Thurm Irina Anselm Natacha Akshoomoff | 2020/11/1 |
Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia | Journal of Inherited Metabolic Disease | Banu Ahtam Susan E Waisbren Vera Anastasoaie Gerard T Berry Matthew Brown | 2020/11 |
Developmental support for infants with genetic disorders | Monica H Wojcik Jane E Stewart Susan E Waisbren Jonathan S Litt | 2020/5/1 |
