C. Missirian

发表

Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

F. Mochel, A. Moncla, R. Reynaud, 2008, European journal of medical genetics.

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

M. Gamerre, N. Philip, S. Sigaudy, 2010, European journal of medical genetics.

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

P. Rump, L. Faivre, C. Thauvin-Robinet, 2011, Journal of Medical Genetics.

Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

A. Mégarbané, S. Julia, N. Philip, 2014, American journal of medical genetics. Part A.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

M. Holder-Espinasse, A. Verloes, M. Carella, 2014, European Journal of Human Genetics.

Germline AGO2 mutations impair RNA interference and human neurological development

R. Pfundt, M. Reijnders, G. Meister, 2020, Nature Communications.

Esophageal atresia with tracheoesophageal fistula in a patient with 7q35-36.3 deletion including SHH gene.

N. Philip, K. Chaumoitre, N. Panait, 2016, European journal of medical genetics.

Truncation of NHEJ1 in a patient with polymicrogyria

N. Philip, D. Figarella-Branger, S. Lindsay, 2007, Human mutation.

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

L. Salomon, C. Bénéteau, M. Vekemans, 2018, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.

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

F. Rivier, D. Wieczorek, I. Touitou, 2013, European Journal of Human Genetics.

Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score

N. Philip, N. Girard, B. Chabrol, 2017, Clinical dysmorphology.

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

N. Philip, L. Villard, A. Moncla, 2007, Human mutation.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

N. Philip, Y. Duffourd, L. Villard, 2017, European Journal of Human Genetics.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling

L. Villard, A. Moncla, C. Missirian, 2002, European Journal of Human Genetics.

TCF4 Deletions in Pitt‐Hopkins Syndrome

N. Philip, J. Rankin, F. Giuliano, 2008, Human mutation.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

L. Salomon, C. Rooryck, C. Bénéteau, 2019, Prenatal diagnosis.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American journal of medical genetics. Part A.

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

N. Philip, M. Milh, A. Moncla, 2013, European journal of medical genetics.

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

N. Philip, N. Lévy, F. Leturcq, 2022, Genes.

Interphase FISH for BCR‐ABL1 rearrangement on neutrophils: A decisive tool to discriminate a lymphoid blast crisis of chronic myeloid leukemia from a de novo BCR‐ABL1 positive acute lymphoblastic leukemia

G. Michel, M. Loosveld, H. Zattara, 2018, Hematological oncology.

Regulatory variants of FOXG1 in the context of its topological domain organisation

N. Tommerup, Nadja Ehmke, A. Vianna-Morgante, 2018, European Journal of Human Genetics.

Effects of eight neuropsychiatric copy number variants on human brain structure

Allison G. Dempsey, M. Owen, R. Buckner, 2021, Translational Psychiatry.

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies

N. Philip, S. Sigaudy, F. Bretelle, 2019, American journal of medical genetics. Part A.

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

N. Philip, J. Guys, P. Malzac, 2000, American journal of medical genetics.

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

M. Mattei, B. Delobel, A. Moncla, 2007, European Journal of Human Genetics.

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

J. Mosser, A. Toutain, N. Philip, 2011, European journal of medical genetics.

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

L. Villard, A. Moncla, B. Chabrol, 2010, European Journal of Human Genetics.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

C. Garel, J. Andrieux, B. Delobel, 2021, Clinical genetics.

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

S. Julia, N. Philip, M. Till, 2015, Clinical genetics.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical Genetics.

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

Jean-François Taly, J. Thevenon, B. Cogné, 2021, Journal of Medical Genetics.

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

N. Philip, Y. Duffourd, L. Villard, 2017, European Journal of Human Genetics.

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

I. Scheffer, E. Bertini, R. Guerrini, 2009, Neurology.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, bioRxiv.

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

C. Béroud, J. Desvignes, M. Krahn, 2019, Journal of Human Genetics.

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

J. Toutain, C. Yardin, F. Vialard, 2015, European Journal of Human Genetics.

Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.

G. Lesca, D. Sanlaville, F. Diguet, 2022, European journal of medical genetics.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

Subcellular distribution of HP1 proteins is altered in ICF syndrome

A. Mégarbané, M. Mattei, A. Moncla, 2005, European Journal of Human Genetics.

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

R. Touraine, L. Cuisset, H. Hamdi-Rozé, 2019, Prenatal diagnosis.

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

Shifeng Xue, F. Magdinier, B. Wollnik, 2019, Nucleic acids research.

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

N. Girard, A. Tasei, B. Coulibaly, 2010, European journal of medical genetics.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease

N. Philip, M. Milh, S. Zaffran, 2017, American journal of medical genetics. Part A.

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review

C. Bénéteau, F. Vialard, M. Till, 2019, Prenatal diagnosis.

Wolf-Hirschhorn (4P-) syndrome in adults.

N. Philip, J. Fryns, F. Beemer, 2001, Genetic counseling.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.

N. Philip, S. Sigaudy, C. Missirian, 2019, Clinical dysmorphology.

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite

Shifeng Xue, F. Magdinier, Christopher, 2019, Nucleic acids research.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

A. Afenjar, N. Le Meur, L. Faivre, 2018, Journal of Medical Genetics.

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

G. Bollini, N. Philip, M. Mattei, 2005, American journal of medical genetics. Part A.

Novel mutations in TTC37 associated with tricho‐hepato‐enteric syndrome

J. Sarles, N. André, N. Lévy, 2011, Human mutation.

Fragile X syndrome and 22q11.2 microdeletion in the same sibship.

N. Philip, A. Moncla, C. Missirian, 2000, American journal of medical genetics.

Use of DOP-PCR for amplification and labeling of BAC DNA for FISH

A. Moncla, C. Popovici, C. Missirian, 2012, Biotechnic & histochemistry : official publication of the Biological Stain Commission.

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report

N. Philip, F. Poinso, C. Missirian, 2018, Journal of Medical Case Reports.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Mono‐allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions

S. Holden, U. Jensen, C. Fagerberg, 2021, Clinical genetics.

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

C. Béroud, J. Desvignes, N. Lévy, 2019, Journal of Human Genetics.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, NPJ Genomic Medicine.

Significant contribution of intragenic deletions to ARID1B mutation spectrum

A. Afenjar, N. Philip, V. Cormier-Daire, 2019, Genetics in Medicine.

A novel mutation and novel features in Nijmegen breakage syndrome

A. Green, E. Shoubridge, A. Munnich, 2001, Journal of medical genetics.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American Journal of Medical Genetics Part A.

Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B.

G. Héry, A. Fabre, M. Cailliez, 2019, Journal of pediatric gastroenterology and nutrition.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

A. Afenjar, N. Philip, D. Ville, 2015, Epilepsia.