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Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

European journal of medical genetics, 2019-06, Vol.62 (6), p.103529-103529, Article 103529

2019

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OC18.02: Exome sequencing during pregnancy for fetuses with unsolved multiple congenital abnormalities: a powerful tool to improve prenatal diagnosis

Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (S1), p.52-52

2021

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Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome

American journal of medical genetics. Part A, 2023-11, Vol.191 (11), p.2728-2735

2023

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Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

Clinical genetics, 2018-06, Vol.93 (6), p.1172-1178

2018

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1325-1331

2021

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1337-1347

2021

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[P1.19]: Noggin elicits retinal fate in Xenopus animal cap embryonic stem cells

International journal of developmental neuroscience, 2010-12, Vol.28 (8), p.661-661

2010

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Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1348-1353

2021

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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Genetics in medicine, 2023-04, Vol.25 (4), p.100018-100018, Article 100018

2023

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1359-1368

2021

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Solving unsolved rare neurological diseases-a Solve-RD viewpoint

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1332-1336

2021

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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Human genomics, 2023-05, Vol.17 (1), p.39-39, Article 39

2023

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Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1470-1471

2021

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Human genetics, 2021-07, Vol.140 (7), p.1109-1120

2021

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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

European journal of human genetics : EJHG, 2024-02, Vol.32 (9), p.1144-1149

2024

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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

American journal of human genetics, 2022-08, Vol.109 (8), p.1421-1435

2022

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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

European journal of medical genetics, 2022-01, Vol.65 (1), p.104402-104402, Article 104402

2022

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Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2036-2047

2022

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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

HGG advances, 2023-04, Vol.4 (2), p.100186-100186, Article 100186

2023

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Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases

European journal of human genetics : EJHG, 2022, Vol.30 (SUPPL 1), p.356-357

2022

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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Genetics in medicine, 2019-04, Vol.21 (4), p.1008-1014

2019

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Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes

European journal of human genetics : EJHG, 2019, Vol.27, p.1700-1701

2019

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Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

European journal of human genetics : EJHG, 2020, Vol.28 (Suppl 1), p.65-66

2020

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Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder

European journal of human genetics : EJHG, 2020, Vol.28 (SUPPL 1), p.32-33

2020

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Fast genome sequencing in less than 40 days for newborn patients in intensive care unit: a feasibility study allowing diagnosis in 56% of cases in a French hospital network

European journal of human genetics : EJHG, 2020, Vol.28 (Suppl 1), p.607-607

2020

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Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

OC18.02: Exome sequencing during pregnancy for fetuses with unsolved multiple congenital abnormalities: a powerful tool to improve prenatal diagnosis

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

[P1.19]: Noggin elicits retinal fate in Xenopus animal cap embryonic stem cells

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes

Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder

Fast genome sequencing in less than 40 days for newborn patients in intensive care unit: a feasibility study allowing diagnosis in 56% of cases in a French hospital network

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