Get started
Author

Saba Sharif

Second Primary Tumors in Neurofibromatosis 1 Patients Treated for Optic Glioma: Substantial Risks After Radiotherapy
2006 · Saba Sharif, Rosalie Ferner, et al. · Journal of Clinical Oncology · 377
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
2013 · Miriam J Smith, James O'Sullivan, et al. · Nature Genetics · 261
Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial
2019 · Michael Mullen, Xu Yu Jin, et al. · The Lancet · 131
PDF
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
2018 · Daniele Cassatella, Sasha R Howard, et al. · European Journal of Endocrinology · 130
PDF
Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017 · Lynette G. Sadleir, Emily I. Mountier, et al. · Neurology · 129
PDF
Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease
2013 · Emma L. Blakely, John W. Yarham, et al. · Human Mutation · 79
PDF
Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2
2012 · Marjolijn Renard, Bert Callewaert, et al. · International Journal of Cardiology · 68
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
2019 · Kathleen M. Gorman, Esther Meyer, et al. · The American Journal of Human Genetics · 63
PDF
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
2021 · Meena Balasubramanian, Alexander J. M. Dingemans, et al. · European Journal of Human Genetics · 39
PDF
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
2013 · Emma MM Burkitt Wright, Emma Sach, et al. · Journal of Medical Genetics · 31
PDF
Characterization of Missense Mutations and Large Deletions in the ALPL Gene by Sequencing and Quantitative Multiplex PCR of Short Fragments
2006 · Marc Spentchian, Isabelle Brun-Heath, et al. · Genetic Testing · 25
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling
2008 · Brigitte Simon‐Bouy, Agnès Taillandier, et al. · Prenatal Diagnosis · 24
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
2019 · Ruth Cleaver, Jonathan Berg, et al. · American Journal of Medical Genetics Part A · 23
PDF
Craniosynostosis with Ectopia Lentis and a Homozygous 20-base Deletion in ADAMTSL4
2012 · Aman Chandra, Jose Antonio Aragon-Martin, et al. · Ophthalmic Genetics · 23
Aplasia cutis congenita and low molecular weight heparin
2005 · Saba Sharif, Charles R.M. Hay, et al. · BJOG An International Journal of Obstetrics & Gynaecology · 15
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
2022 · Christopher Hakkaart, John F. Pearson, et al. · Communications Biology · 14
PDF
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
2023 · Karin Kast, Esther M. John, et al. · Breast Cancer Research · 13
PDF
Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease
2020 · R. G. Abbasciano, J. Barwell, et al. · Trials · 8
PDF
Use of Asthma Guidelines by Primary Care Providers to Reduce Hospitalizations and Emergency Department Visits in Poor, Minority, Urban Children
2006 · Saba Sharif, Michael S. Kaplan · PEDIATRICS · 6
Developmental trajectories in infants and pre-school children with Neurofibromatosis 1
2024 · Hannah Slevin, Fiona Kehinde, et al. · Molecular Autism · 4
PDF
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2019 · Lot Snijders Blok, Justine Rousseau, et al. · Nature Communications · 3
PDF
Involvement of the SWI/SNF Complex in Familial Meningiomatosis
2014 · Miriam J. Smith, James O’ Sullivan, et al. · Cancer Genetics · 1
β2-Adrenoceptor Polymorphisms and Asthma From Childhood to Middle Age in the British 1958 Birth Cohort: A Genetic Association Study
2007 · Saba Sharif, Michael S. Kaplan · PEDIATRICS · 1
Neurofibromatosis Type 2: Recognising Cortical-and Retinal Dysplasia as Early Diagnostic Indicators
2019 · Jessica A. Radley, Juliette Gair, et al. · International Journal of Ophthalmic Pathology
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2019 · Lot Snijders Blok, Justine Rousseau, et al. · Nature Communications
PDF
Works count: 32
Citation count: 1,468
H-index: 15
I10-index: 17
Year
Topic
Type