Publications by authors named "Fadi Hamdan"

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CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.
Haoling Xu, Zhen Liu, Fadi F Hamdan, Shengnan Wu, Mei He

HGG Adv· November 2025

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CertPrime: a new oligonucleotide design tool for gene synthesis.
David Luna-Cerralbo, Ana Serrano, Irene Blasco-Machín, Fadi Hamdan, Juan Martínez-Oliván

Comput Struct Biotechnol J· November 2025

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Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy.
Afitz Da Silva, Samuel Boris Tene Tadoum, Irena J J Muffels, Rohit Budhraja, Luisa Sturiale, Fadi F Hamdan

bioRxiv· August 2025

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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Maria Carla Borroto, Heena Patel, Siddharth Srivastava, Lindsay C Swanson, Boris Keren, Fadi F Hamdan

Pediatr Neurol· November 2024

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Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, Neal Sondheimer, Bhooma Thiruvahindrapuram, Omar Hamdan, Fadi F Hamdan

Nat Genet· April 2024

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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Fadi F Hamdan

Genet Med· August 2023

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Genetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor control.
Sabrina Schlienger, Patricia T Yam, Nursen Balekoglu, Hugo Ducuing, Jean-Francois Michaud, Fadi F Hamdan

Sci Adv· May 2023

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Bi-allelic variants in disrupt the development of multiple organs in humans.
Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Fadi F Hamdan

J Med Genet· March 2023

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coding variants in the gene cause a neurodevelopmental disorder with intellectual disability.
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Fadi F Hamdan

J Med Genet· October 2022

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Assessment of burden and segregation profiles of CNVs in patients with epilepsy.
Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F Hamdan

Ann Clin Transl Neurol· July 2022

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The role of common genetic variation in presumed monogenic epilepsies.
Ciarán Campbell, Costin Leu, Yen-Chen Anne Feng, Stefan Wolking, Claudia Moreau, Fadi F Hamdan

EBioMedicine· July 2022

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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Serena Galosi, Ban H Edani, Simone Martinelli, Hana Hansikova, Erik A Eklund, Fadi F Hamdan

Brain· March 2022

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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Amy L Schneider, Candace T Myers, Alison M Muir, Sophie Calvert, Alice Basinger, Fadi F Hamdan

Epilepsia· January 2021

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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in .
Charles A Steward, Jolien Roovers, Marie-Marthe Suner, Jose M Gonzalez, Barbara Uszczynska-Ratajczak, Fadi F Hamdan

NPJ Genom Med· December 2019

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Fadi F Hamdan

Genet Med· August 2019

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Scott Bell, Justine Rousseau, Huashan Peng, Zahia Aouabed, Pierre Priam, Fadi F Hamdan

Am J Hum Genet· May 2019

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Fadi F Hamdan

Genet Med· April 2019

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Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.
Filippo Manti, Francesca Nardecchia, Sabina Barresi, Martina Venditti, Simone Pizzi, Fadi F Hamdan

Parkinsonism Relat Disord· April 2019

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Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Ebba Alkhunaizi, Shirley Shuster, Patrick Shannon, Victoria Mok Siu, Sandra Darilek, Fadi Hamdan

Am J Med Genet A· March 2019

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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Davor Lessel, Christina Gehbauer, Nuria C Bramswig, Caroline Schluth-Bolard, Sathish Venkataramanappa, Fadi F Hamdan

Brain· August 2018

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Recessive mutations in VPS13D cause childhood onset movement disorders.
Julie Gauthier, Inge A Meijer, Davor Lessel, Niccolò E Mencacci, Dimitri Krainc, Fadi F Hamdan

Ann Neurol· June 2018

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Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of -related disorders.
Rebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, Cheryl Cytrynbaum, Michelle M Axford, Fadi F Hamdan

J Med Genet· May 2018

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A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.
Andrea Accogli, Fadi F Hamdan, Chantal Poulin, Christina Nassif, Guy A Rouleau

Am J Med Genet A· April 2018

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Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
Jean Monlong, Simon L Girard, Caroline Meloche, Maxime Cadieux-Dion, Danielle M Andrade, Fadi F Hamdan

PLoS Genet· April 2018

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