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GC-MS-based urine metabolic profiling of autism spectrum disorders

Analytical and bioanalytical chemistry, 2013-06, Vol.405 (15), p.5291-5300

2013

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Nature genetics, 2011-04, Vol.43 (4), p.356-359

2011

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

American journal of human genetics, 2007-12, Vol.81 (6), p.1169-1185

2007

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Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

Clinical journal of the American Society of Nephrology, 2011-01, Vol.6 (1), p.22-29

2011

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Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

American journal of human genetics, 2007-01, Vol.80 (1), p.1-11

2007

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Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype

PloS one, 2012-03, Vol.7 (3), p.e30778

2012

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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.471-479

2014

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Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

European journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.289-292

2014

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DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

European journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1044-1050

2012

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Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome

PloS one, 2011-04, Vol.6 (4), p.e19464-e19464

2011

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Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier

Fertility and sterility, 2011-06, Vol.95 (7), p.2433.e17-2433.e22

2011

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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1579-1594

2017

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Non-medicinal care of rare diseases

La Presse médicale (1983), 2012-05, Vol.41 Suppl 1, p.S12-S14

Sarda, Pierre

2012

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La prise en charge non-médicamenteuse des maladies rares

La Presse médicale (1983), 2012-05, Vol.41, p.S12-S14

Sarda, Pierre

2012

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Δ6- and Δ5-desaturase activities in the human fetal liver: kinetic aspects

Journal of lipid research, 1998-09, Vol.39 (9), p.1825-1832

1998

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Journal of medical genetics, 2014-11, Vol.51 (11), p.724-736

2014

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Support for patients and families living with a developmental disability

Soins. Pédiatrie, puériculture, 2013-09 (274), p.24

Sarda, Pierre

2013

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Prader-Willi syndrome

Soins. Pédiatrie, puériculture, 2013-09 (274), p.20

Sarda, Pierre

2013

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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-12, Vol.175 (4), p.417-430

2017

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Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

American journal of human genetics, 2013-09, Vol.93 (3), p.579-586

2013

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Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

Human mutation, 2016-12, Vol.37 (12), p.1329-1339

2016

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GC-MS-based urine metabolic profiling of autism spectrum disorders

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort

Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Non-medicinal care of rare diseases

La prise en charge non-médicamenteuse des maladies rares

Δ6- and Δ5-desaturase activities in the human fetal liver: kinetic aspects

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Support for patients and families living with a developmental disability

Prader-Willi syndrome

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

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