A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the …
L El-Bazzal & al - EU of Genetics - 2019
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation
H Jaouadi & al - Genetics Research - 2019
First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism
T Koufakis & al - Case Reports in Genetics - 2019
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy
E Bugiardini & al - Human Molecular Genetics - 2019
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
Pekkinen M. & al - JCI Insight - 2019
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype
Chikhaoui A. & al - frontiers in Genetics - 2019
Piezo1 is required for outflow tract and aortic valve development
Fauchere A. & al - bioRxiv - 2019
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
Jalkh N. & al - BMC Medical Genomics - 2019
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing
Dallali H. & al - Acta Diabetologica - 2019
Retrospective study of 75 children with peripheral inherited neuropathy: Genotype–phenotype correlations
Hoebeke C. & al - Archives de Pédiatrie - 2018
Loss of calmodulin-and radial-spoke-associated complex protein CFAP251 leads to immotile spermatozoa lacking mitochondria and infertility in men
Auguste Y. & al - The American Journal of Human Genetics - 2018
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
Lochmüller H. & al - European Journal of Human Genetics - 2018
Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA
Tsipi M. & al - Journal of the Neurological Sciences - 2018
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Nuria C. Bramswig & al - Human Genetics - 2018
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
Ghedira N. & al - BMC Pediatrics - 2018
Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features
Jaouadi H. & al - Journal of Human Genetics - 2018
Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses
Medina-Carmona E. & al - Human Molecular Genetics - 2018
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
Bacquet J. & al - BMJ Open - 2018
A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)
El-Bazzal L. & al - European Journal of Medical Genetics - 2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Esteve C. & al - The American Journal of Human Genetics - 2018
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene
Joni A. Turunen & al - American Journal of Ophthalmology - 2018
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease
João Farela Neves & al - European Journal of Medical Genetics - 2017
Exome sequencing identifies recurrent BCOR gene alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell Lymphoma
L Jallades & al - Haematologica - 2017
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
Paul Saultier & al - Haematologica - 2017
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
S Elouej & al - Metabolism - 2017
Exome sequencing identifies two variants of the alkylglycerol monooxygenase gene (AGMO) as a cause of relapses in visceral leishmaniasis in children, in Sudan.
S Marquet & al - The Journal of Infectious Diseases - 2017
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing
M Cerino & al - Muscle & Nerve - 2017
Le séquençage d'ADN à haut débit en pratique clinique
C Lacoste & al - Archives de Pédiatrie - 2017
A heterozygous ZMPSTE24 mutation associated with severe metabolic syndrome, ectopic fat accumulation, and dilated cardiomyopathy
D Galant & al - Cells - 2016
How to identify pathogenic mutations among all those variations: variant annotation and filtration in the genome sequencing era
D Salgado & al - Human Mutation - 2016
Clinical Interpretation of Variants from Next‐Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society
WS Oetting & al - Human Mutation - 2016
Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton
C Lacoste & al - Journal of Genetics - 2016
Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia
M Miltgen & al - Movement Disorders - 2016
Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders
S Gorokhova & al - Applied & Translational Genomics - 2015
A mutation in the Gardos channel is associated with hereditary xerocytosis
R Rapetti-Mauss & al - Blood - 2015
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients
M Bartoli & al - Muscle & Nerve - 2014
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