Jennifer Ibrahim

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 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik et al. · Orphanet Journal of Rare Diseases · 2013 · 83 citations · Full text

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

Fady M. Mikhail, Rachel D. Burnside, Brooke Rush et al. · Genetics in Medicine · 2013 · 62 citations · Full text

Genetic Disorder, Medicine, Genetics +6

A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration

Michel Peterschmitt, Gerald F. Cox, Jennifer Ibrahim et al. · Blood Cells Molecules and Diseases · 2017 · 42 citations · Full text

Oral Medicine, Substrate Reduction Therapy, Pharmacotherapy +16

Transient Neonatal Hyperparathyroidism: A Presenting Feature of Mucolipidosis Type II

Anpalakan Sathasivam, Luigi Garibaldi, Robyn M. Murphy et al. · Journal of Pediatric Endocrinology and Metabolism · 2006 · 16 citations