Tony Yammine

Optical genome mapping enables constitutional chromosomal aberration detection

Tuomo Mantere, Kornelia Neveling, Céline Pebrel‐Richard et al. · The American Journal of Human Genetics · 2021 · 253 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome

José‐Mario Capo‐Chichi, Sanjay Kumar Bharti, Joshua A. Sommers et al. · Human Mutation · 2012 · 106 citations

Life Sciences, Genetics, Molecular Genetics +17

Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples

Tuomo Mantere, Kornelia Neveling, Céline Pebrel‐Richard et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2020 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<scp>PI4K2A</scp> deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth Ferrer et al. · Annals of Clinical and Translational Neurology · 2022 · 24 citations · Full text

Life Sciences, Cell Biology, Molecular Genetics +17

Updates on the molecular spectrum of MEFV variants in lebanese patients with Familial Mediterranean Fever

José-Noël Ibrahim, Nabiha Salem, Romy Moussallem et al. · Frontiers in Genetics · 2025 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14