about
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingFurther delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresGlobozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyReducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management.Child with Beckwith-Wiedemann syndrome born after assisted reproductive techniques to an human immunodeficiency virus serodiscordant couple.Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia.A new family with anSLC9A6mutation expanding the phenotypic spectrum of Christianson syndromeIncomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencingTBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutationAuthor Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePrimrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive testsPostzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromeAuthor Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromeSevere gynaecological involvement in Proteus SyndromePrenatal presentation of Aicardi-Goutières syndrome: Nonspecific phenotype necessitates exome sequencing for definitive diagnosisRisk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityChromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in FranceNovel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literatureCardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genesHearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new casesDe novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
P50
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P50
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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Paul Kuentz
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P106
P21
P31
P496
0000-0003-2814-6303