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Human Molecular Genetics|February 22, 2013
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndromeLoïc Drévillon, André Megarbane, Bénédicte Demeer, et al.
Prenatal Diagnosis|June 8, 2019
Prenatal findings in 1p36 deletion syndrome: New cases and a literature reviewSarah Guterman, Claire Beneteau, Sylvia Redon, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGHJoris Andrieux, Christèle Dubourg, Marlène Rio, et al.
European Journal of Medical Genetics|September 30, 2008
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardationMartine Doco-Fenzy, Emilie Landais, Joris Andrieux, et al.
Orphanet Journal of Rare Diseases|March 1, 2022
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasisLauriane Le Collen, Brigitte Delemer, Marta Spodenkiewicz, et al.
Human Mutation|May 12, 2007
Subtelomeric imbalances in phenotypically normal individualsIrina Balikova, Björn Menten, Thomy de Ravel, et al.
Molecular and Cellular Endocrinology|August 13, 2013
Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidismCintia E Citterio, Liliana C Rossetti, Pierre F Souchon, et al.
Journal of Medical Genetics|July 26, 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disordersKevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
American Journal of Medical Genetics. Part A|March 11, 2008
The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patientsMartine Doco-Fenzy, Muriel Holder-Espinasse, Eric Bieth, et al.
Human Molecular Genetics|April 26, 2013
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowthLionel Van Maldergem, Qingming Hou, Vera M Kalscheuer, et al.
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