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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Journal of medical genetics, 2022-12, Vol.59 (12), p.1234-1240

2022

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PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

American journal of human genetics, 2005-03, Vol.76 (3), p.421-426

2005

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Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Nature genetics, 2003-04, Vol.33 (4), p.459-461

2003

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Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

Human molecular genetics, 2003-12, Vol.12 (23), p.3173-3180

2003

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Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule

Orphanet journal of rare diseases, 2014-08, Vol.9 (1), p.124-124

2014

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Dysregulation of FOXG1 pathway in a 14q12 microdeletion case

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3072-3077

2013

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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1519-1531

2019

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Combined deletion of two Condensin II system genes ( NCAPG2 and MCPH1 ) in a case of severe microcephaly and mental deficiency

European journal of medical genetics, 2013-11, Vol.56 (11), p.635-641

2013

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Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

Journal of medical genetics, 2024-01, Vol.61 (1), p.36-46

2024

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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

American journal of human genetics, 2004-03, Vol.74 (3), p.552-557

2004

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FG syndrome: The FGS2 locus revisited

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1489-1492

2012

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Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration

Neurogenetics, 2014-05, Vol.15 (2), p.95-100

2014

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Rescue of fragile X syndrome phenotypes in Fmr1KO mice by a BKCa channel opener molecule

Orphanet journal of rare diseases, 2014-08, Vol.9 (1), Article 124

2014

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PHOX2B gene mutation in a patient with late‐onset central hypoventilation

Pediatric pulmonology, 2004-10, Vol.38 (4), p.349-351

2004

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First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Clinical genetics, 2022-05, Vol.101 (5-6), p.494-506

2022

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Pure proximal deletion of chromosome 21 and kyphosis

European journal of medical genetics, 2007-11, Vol.50 (6), p.469-474

2007

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PHOX2B gene mutation in a patient with late-onset central hypoventilation

Pediatric Pulmonology, 2004, Vol.38 (4), p.349-351

2004

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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule

Dysregulation of FOXG1 pathway in a 14q12 microdeletion case

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Combined deletion of two Condensin II system genes ( NCAPG2 and MCPH1 ) in a case of severe microcephaly and mental deficiency

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

FG syndrome: The FGS2 locus revisited

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration

Rescue of fragile X syndrome phenotypes in Fmr1KO mice by a BKCa channel opener molecule

PHOX2B gene mutation in a patient with late‐onset central hypoventilation

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Pure proximal deletion of chromosome 21 and kyphosis

PHOX2B gene mutation in a patient with late-onset central hypoventilation

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