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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Genetics in medicine, 2019-09, Vol.21 (9), p.2015-2024

2019

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MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

American journal of human genetics, 2014-12, Vol.95 (6), p.736-743

2014

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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

The journal of clinical endocrinology and metabolism, 2018-07, Vol.103 (7), p.2436-2446

2018

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

American journal of human genetics, 2020-01, Vol.106 (1), p.26-40

2020

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Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

American Journal of Psychiatry, 2017-11, Vol.174 (11), p.1054-1063

2017

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Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

American journal of obstetrics and gynecology, 2024-03, Vol.230 (3), p.368.e1-368.e12

2024

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Confirmation that RIPK4 mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.3114-3117

2017

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Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions

Clinical genetics, 2022-02, Vol.101 (2), p.208-213

2022

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Arterial tortuosity syndrome: 40 new families and literature review

Genetics in medicine, 2018-10, Vol.20 (10), p.1236-1245

2018

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Novel PTEN germline mutation in a family with mild phenotype: Difficulties in genetic counseling

Gene, 2013-01, Vol.512 (2), p.194-197

2013

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Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome

Prenatal diagnosis, 2016-06, Vol.36 (6), p.561-567

2016

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Esophageal atresia with tracheoesophageal fistula in a patient with 7q35–36.3 deletion including SHH gene

European journal of medical genetics, 2016-10, Vol.59 (10), p.546-548

2016

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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

European journal of human genetics : EJHG, 2018-01, Vol.26 (1), p.143-148

2018

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Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2847-2859

2016

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Regulatory variants of FOXG1 in the context of its topological domain organisation

European journal of human genetics : EJHG, 2018-02, Vol.26 (2), p.186-196

2018

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Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

American journal of medical genetics. Part A, 2018-10, Vol.176 (10), p.2172-2181

2018

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The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.992-1000

2016

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Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.930-934

2017

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.844-851

2016

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Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score

Clinical dysmorphology, 2017-01, Vol.26 (1), p.47

2017

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Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

American journal of human genetics, 2013-03, Vol.92 (3), p.439-447

2013

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Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

American journal of medical genetics. Part A, 2014-08, Vol.164A (8), p.1991-1997

2014

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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

Clinical genetics, 2016-05, Vol.89 (5), p.630-635

2016

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Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins

European journal of medical genetics, 2013-05, Vol.56 (5), p.274-277

2013

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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

Confirmation that RIPK4 mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome

Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions

Arterial tortuosity syndrome: 40 new families and literature review

Novel PTEN germline mutation in a family with mild phenotype: Difficulties in genetic counseling

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome

Esophageal atresia with tracheoesophageal fistula in a patient with 7q35–36.3 deletion including SHH gene

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

Regulatory variants of FOXG1 in the context of its topological domain organisation

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins

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