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Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects

Disease models & mechanisms, 2024-06, Vol.17 (6)

2024

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CHARGE and Kabuki syndromes: a phenotypic and molecular link

Human molecular genetics, 2014-08, Vol.23 (16), p.4396-4405

2014

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Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome

Frontiers in cell and developmental biology, 2021-11, Vol.9, p.779009

2021

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Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis

Frontiers in neurology, 2022-07, Vol.13, p.893605-893605

2022

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Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

Molecular cytogenetics, 2018-12, Vol.11 (1), p.62-5, Article 62

2018

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Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex

PloS one, 2012-12, Vol.7 (12), p.e52640-e52640

2012

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CHARGEd with neural crest defects

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-12, Vol.175 (4), p.478-486

2017

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TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations

Journal of human genetics, 2009-06, Vol.54 (6), p.331-334

2009

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Using Xenopus to analyze neurocristopathies like Kabuki syndrome

Genesis (New York, N.Y. : 2000), 2021-02, Vol.59 (1-2), p.e23404-n/a

2021

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CHARGE and Kabuki syndromes: a phenotypic and molecular link

Human molecular genetics, 2014-08, Vol.23 (16), p.4396

2014

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De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

Human genetics, 2020-11, Vol.139 (11), p.1363-1379

2020

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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

Human genetics, 2014-08, Vol.133 (8), p.997-1009

2014

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Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

Journal of medical genetics, 2019-04, Vol.56 (4), p.261-264

2019

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CHARGE syndrome and related disorders: a mechanistic link

Human molecular genetics, 2021-11, Vol.30 (23), p.2215-2224

2021

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Sema3a plays a role in the pathogenesis of CHARGE syndrome

Human molecular genetics, 2018-04, Vol.27 (8), p.1343-1352

2018

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Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

Human mutation, 2015-08, Vol.36 (8), p.787-796

2015

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Acute onset of adult Alexander disease

Journal of the neurological sciences, 2013-08, Vol.331 (1), p.152-154

2013

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A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia

Molecular syndromology, 2020-02, Vol.11 (1), p.30-37

2020

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CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

Human molecular genetics, 2010-07, Vol.19 (14), p.2858-2866

2010

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Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome

Journal of clinical oncology, 2015-05, Vol.33 (13), p.e62-e65

2015

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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

Journal of medical genetics, 2007-10, Vol.44 (10), p.651-656

2007

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X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

Neurology. Genetics, 2019-06, Vol.5 (3), p.e327-e327

2019

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The face of Noonan syndrome: Does phenotype predict genotype

American journal of medical genetics. Part A, 2010-08, Vol.152A (8), p.1960-1966

2010

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Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes

European journal of medical genetics, 2012-08, Vol.55 (8), p.480-484

2012

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Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

Molecular cytogenetics, 2014-10, Vol.7 (1), p.74-74, Article 74

2014

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Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects

CHARGE and Kabuki syndromes: a phenotypic and molecular link

Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome

Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex

CHARGEd with neural crest defects

TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations

Using Xenopus to analyze neurocristopathies like Kabuki syndrome

CHARGE and Kabuki syndromes: a phenotypic and molecular link

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

CHARGE syndrome and related disorders: a mechanistic link

Sema3a plays a role in the pathogenesis of CHARGE syndrome

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations

Acute onset of adult Alexander disease

A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

The face of Noonan syndrome: Does phenotype predict genotype

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

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