Ahmad S. Teebi

Structural Variation of Chromosomes in Autism Spectrum Disorder

Christian R. Marshall, Abdul Noor, John B. Vincent et al. · The American Journal of Human Genetics · 2008 · 1.8K citations · Full text

Chromatin, Structural Variation, Syndromic Autism +5

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Timothy W. Yu, Maria H. Chahrour, Michael E. Coulter et al. · Neuron · 2013 · 456 citations · Full text

Whole-exome Sequencing, Genetics, Syndromic Autism +1

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Sibel Kantarci, Lihadh Al‐Gazali, R. Sean Hill et al. · Nature Genetics · 2007 · 315 citations · Full text

Glomerulonephritis, Urology, Mendelian Disorder +10

Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation

Cornelius F. Boerkoel, Hiroshi Takashima, Carlos García et al. · Annals of Neurology · 2001 · 279 citations

Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings

H. A. Majeed, Malak H. Kalaawi, D. Mohanty et al. · The Journal of Pediatrics · 1989 · 244 citations

Family Medicine, Congenital Dyserythropoietic Anemia, Pediatrics +1