Chérif Beldjord

Research Institute of Molecular Pathology — Austria

Biochemistry, Genetics and Molecular Biology · Life Sciences

37h-index7.2kcitations79works0.02yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(30), Cystic Fibrosis Research Advances(11), Microtubule and mitosis dynamics(8), Neonatal Respiratory Health Research(7), Hemoglobinopathies and Related Disorders(7)

Publications79 total

Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia
Nature Genetics·2016· 117 cited
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency
The Journal of Clinical Endocrinology & Metabolism·2016· 141 citedOpen Access
PINK1 and FLNA mutations association: A role for atypical parkinsonism?
Parkinsonism & Related Disorders·2016
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development
European Journal of Human Genetics·2015· 35 citedOpen Access
New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression
The Journal of Clinical Endocrinology & Metabolism·2014· 60 citedOpen Access
Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1
Neuromuscular Disorders·2014· 35 citedOpen Access
Bilateral Frontoparietal Polymicrogyria
The Indian Journal of Pediatrics·2014· 2 cited
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
Acta Neuropathologica Communications·2014· 129 citedOpen Access
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Brain·2014· 307 citedOpen Access
Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1
Archives of cardiovascular diseases·2013· 58 cited
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes
European Journal of Human Genetics·2013· 25 citedOpen Access
New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum
Brain·2013· 119 citedOpen Access
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
European Journal of Human Genetics·2012· 63 citedOpen Access
Mosaic DCX deletion causes subcortical band heterotopia in males
Neurogenetics·2012· 19 cited
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis
European Journal of Medical Genetics·2012· 11 cited
Deletion of filamin A in two female patients with periventricular nodular heterotopia
American Journal of Medical Genetics Part A·2012· 6 cited
Lissencéphalies : étude moléculaire de deux familles algériennes
Revue Neurologique·2012
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex
Brain·2010· 140 citedOpen Access
Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes
Acta Neuropathologica·2010· 61 cited
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy
Epilepsy Research·2009· 4 cited
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Frequent Co-authors

Jamel Chelly(16), Karine Poirier(14), Yoann Saillour(14), Jamel Chelly(12), Vincent des Portes(11), Nadia Bahi‐Buisson(11), Thierry Bienvenu(11), Fiona Francis(10), Catherine Fallet‐Bianco(8), Nathalie Boddaert(8), Axel Kahn(7), Isabelle Souville(7), Pierre Billuart(6), Alain Carrié(6), Claude Moraine(5), Caroline Elie(5), Hilde Van Esch(5), Marie Claude Vinet(4), Jean‐Pierre Fryns(4), Karine Lascelles(4)