Siham Chafai Elalaoui

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Christopher T. Gordon, Shifeng Xue, Gökhan Yigit et al. · Nature Genetics · 2017 · 131 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +5

CONSANGUINEOUS MARRIAGES IN MOROCCO AND THE CONSEQUENCE FOR THE INCIDENCE OF AUTOSOMAL RECESSIVE DISORDERS

Imane Cherkaoui Jaouad, Siham Chafai Elalaoui, Aziza Sbiti et al. · Journal of Biosocial Science · 2009 · 121 citations

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Laïla El Khattabi, Solveig Heide, Jean‐Hubert Caberg et al. · Journal of Medical Genetics · 2018 · 93 citations

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Periklis Makrythanasis, Mari Nelis, Federico Santoni et al. · Human Mutation · 2014 · 85 citations

Array Cgh, Rare Diseases, Mendelian Disorder +15

Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

Pascaline Létard, Séverine Drunat, Yoann Vial et al. · Human Mutation · 2017 · 69 citations · Full text

Developmental Anomaly, Developmental Biology, Surface Area +13