Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

S. Waisbren · SciRah

Researcher profile · Semantic Scholar

S. Waisbren

Share profile

S. Waisbren — researcher profile on SciRah

h-index: 48
Works: 151
Citations: 8,908

Most-cited papers

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Jinkuk Kim, Chu Hu, Christelle Moufawad El Achkar, L. Black +44 more
2019New England Journal of Medicine655 citations Open access
Semantic Scholar
Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis.
S. Waisbren, K. Noel, K. Fahrbach, C. Cella +3 more
2007Molecular Genetics and Metabolism339 citations
Semantic Scholar
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
O. Ceyhan-Birsoy, J. Murry, K. Machini, Matthew S. Lebo +34 more
2019American Journal of Human Genetics288 citations Open access
Semantic Scholar
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Kathryn M. Camp, M. Parisi, P. Acosta, G. Berry +58 more
2014Molecular Genetics and Metabolism245 citations
Semantic Scholar
Expanded Newborn Screening for Biochemical Disorders: The Effect of a False-Positive Result
Elizabeth A. Gurian, D. Kinnamon, J. Henry, S. Waisbren
2006Pediatrics228 citations
Semantic Scholar
The BabySeq project: implementing genomic sequencing in newborns
I. Holm, Pankaj B. Agrawal, O. Ceyhan-Birsoy, Kurt D. Christensen +17 more
2018BMC Pediatrics175 citations Open access
Semantic Scholar
Psychiatric symptoms and disorders in phenylketonuria.
V. Brumm, D. Bilder, S. Waisbren
2010Molecular Genetics and Metabolism166 citations
Semantic Scholar
The Adult Galactosemic Phenotype
S. Waisbren, Nancy L. Potter, C. Gordon, R. Green +28 more
2011Journal of Inherited Metabolic Disease165 citations Open access
Semantic Scholar
A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening
J. Hewlett, S. Waisbren
2006Journal of Inherited Metabolic Disease163 citations
Semantic Scholar
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
L. Welling, L. Bernstein, G. Berry, A. Burlina +19 more
2016Journal of Inherited Metabolic Disease155 citations Open access
Semantic Scholar
Gender Differences in Research Grant Applications and Funding Outcomes for Medical School Faculty
S. Waisbren, H. Bowles, Tayaba Hasan, K. Zou +16 more
2008Journal of Women's Health150 citations
Semantic Scholar
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations
J. Gentile, W. Tan, Lucia T. Horowitz, C. Bacino +10 more
2010Journal of Developmental and Behavioral Pediatrics147 citations Open access
Semantic Scholar
Angelman Syndrome: Mutations Influence Features in Early Childhood
W. Tan, C. Bacino, S. Skinner, I. Anselm +15 more
2011American Journal of Medical Genetics. Part A126 citations Open access
Semantic Scholar
The natural history of classic galactosemia: lessons from the GalNet registry
M. E. Rubio-Gozalbo, M. Haskovic, A. Bosch, B. Burnytė +39 more
2019Orphanet Journal of Rare Diseases117 citations Open access
Semantic Scholar
Stability of blood phenylalanine levels and IQ in children with phenylketonuria.
Vera Anastasoaie, Laura Kurzius, Peter W. Forbes, S. Waisbren
2008Molecular Genetics and Metabolism111 citations
Semantic Scholar
Cognitive and Psychological Profile of Males With Becker Muscular Dystrophy
H. Young, Belinda Barton, S. Waisbren, Lourdes Portales Dale +3 more
2008Journal of Child Neurology107 citations
Semantic Scholar
Mid-gestational maternal free thyroxine concentration and offspring neurocognitive development at age two years.
W. Craig, W. Allan, E. Kloza, A. Pulkkinen +5 more
2012Journal of Clinical Endocrinology and Metabolism93 citations Open access
Semantic Scholar
Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project
C. Genetti, Talia S. Schwartz, J. Robinson, G. VanNoy +13 more
2018Genetics in Medicine91 citations Open access
Semantic Scholar
Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.
B. Burton, K. B. Jones, S. Cederbaum, F. Rohr +7 more
2018Molecular Genetics and Metabolism90 citations Open access
Semantic Scholar
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations
T. Sahoo, C. Bacino, J. German, C. Shaw +6 more
2007European Journal of Human Genetics87 citations Open access
Semantic Scholar
Establishing a Consortium for the Study of Rare Diseases: The Urea Cycle Disorders Consortium
J. Seminara, M. Tuchman, L. Krivitzky, J. Krischer +21 more
2010Molecular Genetics and Metabolism86 citations Open access
Semantic Scholar
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
Patricia Jumbo-Lucioni, Kathryn B. Garber, J. Kiel, I. Barić +16 more
2012Journal of Inherited Metabolic Disease81 citations Open access
Semantic Scholar
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
S. Waisbren, H. Levy, M. Noble, D. Matern +3 more
2008Molecular Genetics and Metabolism73 citations Open access
Semantic Scholar
Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
Stacey Pereira, H. Smith, Leslie A. Frankel, Kurt D. Christensen +11 more
2021JAMA pediatrics72 citations Open access
Semantic Scholar
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits
S. Lalani, Joseph V. Thakuria, G. Cox, Xue-Qing Wang +27 more
2008Journal of Medical Genetics72 citations Open access
Semantic Scholar
Improving Long Term Outcomes in Urea Cycle Disorders-Report from the Urea Cycle Disorders Consortium
S. Waisbren, A. Gropman, M. Batshaw
2016Journal of Inherited Metabolic Disease69 citations Open access
Semantic Scholar
Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study.
K. Antshel, Ingrid O Epstein, S. Waisbren
2004Neuropsychology61 citations
Semantic Scholar
Developmental Timing of Exposure to Elevated Levels of Phenylalanine Is Associated with ADHD Symptom Expression
K. Antshel, S. Waisbren
2003Journal of Abnormal Child Psychology61 citations
Semantic Scholar
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
R. Yusupov, D. Finegold, E. Naylor, I. Sahai +2 more
2010Molecular Genetics and Metabolism60 citations
Semantic Scholar
Impact of diagnosis and therapy on cognitive function in urea cycle disorders
R. Posset, A. Gropman, S. Nagamani, Lindsay C. Burrage +40 more
2019Annals of Neurology58 citations Open access
Semantic Scholar
Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.
S. Waisbren, Michelle Rones, Catherine Y. Read, D. Marsden +1 more
2004Journal of Pediatric Psychology58 citations
Semantic Scholar
A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.
B. Burton, M. Grant, A. Feigenbaum, Rani H. Singh +12 more
2015Molecular Genetics and Metabolism57 citations Open access
Semantic Scholar
Person ability scores as an alternative to norm-referenced scores as outcome measures in studies of neurodevelopmental disorders
Cristan A. Farmer, Aaron J. Kaat, A. Thurm, I. Anselm +26 more
2020American Journal on Intellectual and Developmental Disabilities55 citations Open access
Semantic Scholar
A Therapeutic Trial of Pro-methylation Dietary Supplements in Angelman Syndrome
L. Bird, W. Tan, C. Bacino, S. Peters +13 more
2011American Journal of Medical Genetics. Part A48 citations Open access
Semantic Scholar
IMPACT OF FALSE-POSITIVE NEWBORN METABOLIC SCREENING RESULTS ON EARLY HEALTH CARE UTILIZATION
E. Lipstein, J. Perrin, S. Waisbren, L. Prosser
2009Genetics in Medicine48 citations Open access
Semantic Scholar
In the Early Postpartum Period, Parents are Interested in Newborn Genomic Testing
S. Waisbren, Danielle K. Bäck, Christina Liu, Sarah S. Kalia +3 more
2014Genetics in Medicine46 citations Open access
Semantic Scholar
BIOCHEMICAL MARKERS AND NEUROPSYCHOLOGICAL FUNCTIONING IN DISTAL UREA CYCLE DISORDERS
S. Waisbren, D. Cuthbertson, P. Burgard, A. Holbert +2 more
2018Journal of Inherited Metabolic Disease43 citations Open access
Semantic Scholar
Double-Blind Therapeutic Trial in Angelman Syndrome Using Betaine and Folic Acid
S. Peters, Lynne M. Bird, V. Kimonis, Daniel G. Glaze +11 more
2010American Journal of Medical Genetics. Part A42 citations Open access
Semantic Scholar
Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease
Y. Landau, S. Waisbren, Lawrence M. A. Chan, H. Levy
2017Journal of Inherited Metabolic Disease41 citations
Semantic Scholar
Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinic.
S. Waisbren, D. White
2010Molecular Genetics and Metabolism41 citations
Semantic Scholar
Parental tolerance of false-positive newborn screening results.
L. Prosser, J. Ladapo, Donna Rusinak, S. Waisbren
2008Archives of Pediatrics & Adolescent Medicine40 citations
Semantic Scholar
Neuropsychological attributes of urea cycle disorders: A systematic review of the literature
S. Waisbren, A. Stefanatos, T. Kok, Burcu Ozturk-Hismi
2019Journal of Inherited Metabolic Disease38 citations Open access
Semantic Scholar
Psychosocial issues and outcomes in maternal PKU.
R. Koch, F. Trefz, S. Waisbren
2010Molecular Genetics and Metabolism38 citations
Semantic Scholar
Expanded newborn screening: information and resources for the family physician.
S. Waisbren
2008American Family Physician37 citations
Semantic Scholar
Neuropsychological Outcomes in Fatty Acid Oxidation Disorders: 85 Cases Detected by Newborn Screening
S. Waisbren, Y. Landau, Jenna Wilson, J. Vockley
2013Developmental Disabilities Research Reviews35 citations Open access
Semantic Scholar
Pregnancy experiences in the woman with mild hyperphenylalaninemia.
H. Levy, S. Waisbren, F. Güttler, W. Hanley +6 more
2003Pediatrics35 citations
Semantic Scholar
ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus
Shaul Lerner, E. Anderzhanova, S. Verbitsky, R. Eilam +31 more
2019Cell Reports32 citations Open access
Semantic Scholar
Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation
M. I. García, G. Araya, Soledad Coo, S. Waisbren +1 more
2017Molecular Genetics and Metabolism Reports30 citations Open access
Semantic Scholar
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy
N. Longo, K. Siriwardena, A. Feigenbaum, D. Dimmock +7 more
2014Genetics in Medicine30 citations Open access
Semantic Scholar
The knowledge gap in expanded newborn screening: Survey results from paediatricians in Massachusetts
M. Gennaccaro, S. Waisbren, D. Marsden
2005Journal of Inherited Metabolic Disease30 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

H. Levy×10
Invite
H. Levy — researcher profile on SciRah
R. Green×6
Invite
R. Green — researcher profile on SciRah
C. Genetti×5
Invite
C. Genetti — researcher profile on SciRah
A. Beggs×5
Invite
A. Beggs — researcher profile on SciRah

×5

Invite

I. Holm — researcher profile on SciRah

Invite

G. Berry — researcher profile on SciRah

Invite

J. Gentile — researcher profile on SciRah

Invite

C. Bacino — researcher profile on SciRah

Invite

S. Peters — researcher profile on SciRah

Pankaj B. Agrawal×4

Invite

Pankaj B. Agrawal — researcher profile on SciRah

Invite

R. Parad — researcher profile on SciRah

Invite

A. McGuire — researcher profile on SciRah