Linda M. Randolph

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Friedrich K. Trefz, Barbara K. Burton, Nicola Longo et al. · The Journal of Pediatrics · 2009 · 192 citations

Pharmacy, Pediatrics, Pharmacotherapy +7

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 190 citations · Full text

Medicine, Dermatology, Genetics +17

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday et al. · Wellcome Open Research · 2018 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader et al. · American Journal of Medical Genetics Part A · 2013 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes et al. · Genetics in Medicine · 2018 · 93 citations · Full text

Medicine, Molecular Genetics, Neurology +11