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Author/Creator Hamdan, Fadi F

1. Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans. Issue 3 (5th July 2022)

Authors:
Bouasker, Samir; Patel, Nisha; Greenlees, Rebecca; Wellesley, Diana; Fares Taie, Lucas; Almontashiri, Naif A; Baptista, Julia; Alghamdi, Malak Ali; Boissel, Sarah; Martinovic, Jelena; Prokudin, Ivan; Holden, Samantha; Mudhar, Hardeep-Singh; Riley, Lisa G; Nassif, Christina; Attie-Bitach, Tania; M...
Journal:
Journal of medical genetics
Issue:
Volume 60:Issue 3(2023)
Page Start:
294
Record Type:
Journal Article
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2. Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. Issue 5 (29th March 2018)

Authors:
Jobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R; Cytrynbaum, Cheryl; Axford, Michelle M; Londero, Vanessa; Moalem, Sharon; Orr, Jennifer; Rossignol, Francis; Lopes, Fatima Daniela; Gauthier, Julie; Alos, Nathalie; Rupps, Rosemarie; McKinnon, Margaret; Adam, Shelin; Nowaczyk, ...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 5(2018)
Page Start:
316
Record Type:
Journal Article
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3. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Issue 10 (15th December 2021)

Authors:
Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washingto...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 10(2022)
Page Start:
965
Record Type:
Journal Article
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4. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. Issue 5 (3rd February 2015)

Authors:
Capo-Chichi, José-Mario; Boissel, Sarah; Brustein, Edna; Pickles, Sarah; Fallet-Bianco, Catherine; Nassif, Christina; Patry, Lysanne; Dobrzeniecka, Sylvia; Liao, Meijiang; Labuda, Damian; Samuels, Mark E; Hamdan, Fadi F; Velde, Christine Vande; Rouleau, Guy A; Drapeau, Pierre; Michaud, Jacques L
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 5(2015)
Page Start:
303
Record Type:
Journal Article
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5. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. Issue 11 (17th May 2013)

Authors:
Capo-Chichi, José-Mario; Tcherkezian, Joseph; Hamdan, Fadi F; Décarie, Jean Claude; Dobrzeniecka, Sylvia; Patry, Lysanne; Nadon, Marc-Antoine; Mucha, Bettina E; Major, Philippe; Shevell, Michael; Bencheikh, Bouchra Ouled Amar; Joober, Ridha; Samuels, Mark E; Rouleau, Guy A; Roux, Philippe P; Mich...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 11(2013)
Page Start:
740
Record Type:
Journal Article
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6. FOXP1-related intellectual disability syndrome: a recognisable entity. Issue 9 (22nd July 2017)

Authors:
Meerschaut, Ilse; Rochefort, Daniel; Revençu, Nicole; Pètre, Justine; Corsello, Christina; Rouleau, Guy A; Hamdan, Fadi F; Michaud, Jacques L; Morton, Jenny; Radley, Jessica; Ragge, Nicola; García-Miñaúr, Sixto; Lapunzina, Pablo; Bralo, Maria Palomares; Mori, Maria Ángeles; Moortgat, Stéphanie; B...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 9(2017)
Page Start:
613
Record Type:
Journal Article
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7. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. (July 2018)

Authors:
Boissel, Sarah; Fallet-Bianco, Catherine; Chitayat, David; Kremer, Valérie; Nassif, Christina; Rypens, Françoise; Delrue, Marie-Ange; Dal Soglio, Dorothée; Oligny, Luc; Patey, Natalie; Flori, Elisabeth; Cloutier, Mireille; Dyment, David; Campeau, Philippe; Karalis, Aspasia; Nizard, Sonia; Fraser,...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 7(2018)
Page Start:
745
Record Type:
Journal Article
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9. Mutations in TMEM231 cause Joubert syndrome in French Canadians. Issue 10 (25th September 2012)

Authors:
Srour, Myriam; Hamdan, Fadi F; Schwartzentruber, Jeremy A; Patry, Lysanne; Ospina, Luis H; Shevell, Michael I; Désilets, Valérie; Dobrzeniecka, Sylvia; Mathonnet, Géraldine; Lemyre, Emmanuelle; Massicotte, Christine; Labuda, Damian; Amrom, Dina; Andermann, Eva; Sébire, Guillaume; Maranda, Bruno; ...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 10(2012)
Page Start:
636
Record Type:
Journal Article
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