V. Drouin‐Garraud

发表

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

J. Shendure, J. Rosenfeld, B. V. van Bon, 2012, Nature Genetics.

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

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2007, European Journal of Human Genetics.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

J. Tolmie, E. Tobias, B. Gener, 2010, Human mutation.

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

D. Campion, O. Guillin, V. Drouin‐Garraud, 2020, Translational Psychiatry.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2006, European Journal of Human Genetics.

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

C. Petit, F. Denoyelle, A. Toutain, 2004, Clinical genetics.

[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

D. Hannequin, A. Toutain, V. Drouin‐Garraud, 2005, Revue neurologique.

Two dimensional gel electrophoresis of apolipoprotein C‐III and MALDI‐TOF MS are complementary techniques for the study of combined defects in N‐ and mucin type O‐glycan biosynthesis

V. Drouin‐Garraud, J. Michalski, W. Morelle, 2008 .

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

J. Schuurs-Hoeijmakers, V. Drouin‐Garraud, H. van Bokhoven, 2014, European journal of medical genetics.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

M. Polak, N. Boddaert, A. Brice, 2017, Journal of Medical Genetics.

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2005, Archives of otolaryngology--head & neck surgery.

Charcot–Marie–Tooth features and maculopathy in a patient with Danon disease

M. Komajda, N. Romero, V. Drouin‐Garraud, 2004, Neurology.

Implantable cardioverter-defibrillators in lamin A/C mutation carriers with cardiac conduction disorders.

F. Anselme, V. Drouin‐Garraud, A. Gay, 2013, Heart rhythm.

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations

M. Komajda, V. Drouin‐Garraud, P. Charron, 2003, Journal of medical genetics.

Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy

S. Tezenas du Montcel, V. Drouin‐Garraud, V. Pedergnana, 2011, Human Genetics.

De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease.

P. Itin, V. Drouin‐Garraud, C. Balmer, 2012, Swiss medical weekly.

Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome

C. Garel, J. Oury, V. Drouin‐Garraud, 2009, American journal of medical genetics. Part A.

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.

F. Rivier, A. Toutain, V. Drouin‐Garraud, 2013, Gene.

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

V. Drouin‐Garraud, T. Frebourg, G. Matthijs, 2000, American journal of medical genetics.

Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation.

D. Tregouet, M. Humbert, V. Drouin‐Garraud, 2010, American journal of respiratory and critical care medicine.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Albert David, Jean Weissenbach, José-Alain Sahel, 2011, Orphanet journal of rare diseases.

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

J. Tolmie, E. Tobias, V. Drouin‐Garraud, 2008, Journal of Medical Genetics.

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

V. Drouin‐Garraud, D. Lacombe, Y. Bignon, 2003, The Journal of investigative dermatology.

Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation

A. Mégarbané, V. Drouin‐Garraud, F. Fenaille, 2018, Electrophoresis.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, O. Poch, N. Katsanis, 2010, Human Genetics.

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2004, American journal of medical genetics. Part A.

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

V. Drouin‐Garraud, A. Tassin, S. Amselem, 2020, American journal of human genetics.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

F. Denoyelle, V. Drouin‐Garraud, B. Gilbert-Dussardier, 2010, International journal of pediatric otorhinolaryngology.

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

N. Drouot, V. Drouin‐Garraud, T. Frebourg, 2006, European Journal of Human Genetics.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Laurence Faivre, Claude Bendavid, Alice Goldenberg, 2009, Archives of general psychiatry.

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

H. Cavé, A. Toutain, V. Drouin‐Garraud, 2016, European Journal of Human Genetics.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

K. Devriendt, G. Mortier, Y. Gillerot, 2010, Molecular Syndromology.

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

V. Drouin‐Garraud, H. Dollfus, C. Baumann, 2012, European Journal of Human Genetics.

domain: genotypic and phenotypic variations in Waardenburg and 2

Annick, V. Drouin‐Garraud, H. Dollfus, 2012 .

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

M. Hauschild, P. Bouloux, M. Polak, 2014, Genetics in Medicine.

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

A. Afenjar, V. Drouin‐Garraud, T. Frebourg, 2007, Human mutation.

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

V. Drouin‐Garraud, D. Bonneau, R. Fischmeister, 2006, Journal of Medical Genetics.

affected by Best vitelliform macular dystrophy gene mutations identified in patients VMD2 New

V. Drouin‐Garraud, M. Schorderet, R. Fischmeister, 2007 .

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

V. Drouin‐Garraud, O. Dubourg, P. Laforêt, 2013, Neurology.

Type I hyperprolinemia: genotype/phenotype correlations

D. Valle, D. Campion, A. Afenjar, 2010, Human mutation.

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

T. van Amelsvoort, D. Campion, D. Hannequin, 2007, Human molecular genetics.

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.

V. Drouin‐Garraud, A. Boland, T. Frebourg, 2021, European journal of medical genetics.

Laryngeal abnormalities are frequent in the 22q11 deletion syndrome.

C. Leopold, V. Drouin‐Garraud, C. Cellier, 2012, International journal of pediatric otorhinolaryngology.

Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy

Jocelyn Laporte, Luciano Merlini, Christophe Béroud, 2012, Human mutation.

Molecular characterization of a 14q deletion in a boy with features of Holt–Oram syndrome

V. Drouin‐Garraud, T. Frebourg, N. Le Meur, 2005, American journal of medical genetics. Part A.

Missense mutations of conserved glycine residues in fibrillin‐1 highlight a potential subtype of cb‐EGF‐like domains

C. Béroud, N. Chassaing, V. Drouin‐Garraud, 2010, Human mutation.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

F. Chapon, A. Geille, G. Bassez, 2016, PloS one.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large‐sized genomic deletion and evidence for messenger RNA decay

C. Béroud, F. Chapon, V. Drouin‐Garraud, 2007, Clinical genetics.

Congenital cytomegalovirus is the second most frequent cause of bilateral hearing loss in young French children.

F. Denoyelle, V. Drouin‐Garraud, S. Grabar, 2013, The Journal of pediatrics.

Townes‐Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

E. Calzolari, C. Petit, S. Blanchard, 1999, Human mutation.

Ovarian fibromatosis and sotos syndrome with a new genetic mutation.

V. Drouin‐Garraud, J. Sabourin, P. Vivier, 2013, Journal of pediatric and adolescent gynecology.

Recurrent rearrangements in synaptic and neurodevelopmental genes 1 support the existence of shared biological pathways 2 between Schizophrenia , Autism and Mental Retardation

D. Campion, C. Barthélémy, V. Drouin‐Garraud, 2008 .

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

ZDHHC8 single nucleotide polymorphism rs175174 is not associated with psychiatric features of the 22q11 deletion syndrome or schizophrenia.

T. van Amelsvoort, D. Campion, N. Philip, 2007, Psychiatric genetics.

Prenatal revelation of Niemann–Pick disease type C in siblings

A. Laquérriere, V. Drouin‐Garraud, S. Marret, 2008, Acta paediatrica.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

A. Brice, V. Drouin‐Garraud, C. Thauvin, 2014, Orphanet Journal of Rare Diseases.

Calcified mediastinal haematoma: a rare case of cardiac constriction

M. Komajda, V. Drouin‐Garraud, T. Frebourg, 2004, Heart.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

C. Petit, D. Weil, F. Denoyelle, 2004, European Journal of Human Genetics.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

N. Katsanis, A. Mégarbané, N. Philip, 2010, Human Genetics.