C. Le Caignec

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Parallel derivation of isogenic human primed and naive induced pluripotent stem cells

T. Mikkelsen, R. Redon, B. Schwikowski, 2018, Nature Communications.

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

R. Zannolli, H. Hjalgrim, M. Bak, 2012, Clinical genetics.

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

R. Redon, M. Bitner-Glindzicz, G. Mortier, 2010, American journal of human genetics.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

S. Scherer, J. Rosenfeld, A. V. Vulto-van Silfhout, 2016, Molecular Psychiatry.

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

A. Toutain, A. Wilkie, J. Galbany, 2019, Human mutation.

Critical Assessment of Microarray Data Analysis Contest Datasets Emerald Dataset : a Microarray Experiment to Study the Relative Magnitudes of Technical and Biological Variation Talks Keynote towards Cracking the Code of Transcription and Chromatin Regulation Analysis of Comparative Genomic Hybridiz

W. Langdon, R. King, E. Segal, 2022 .

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

S. Julia, R. Touraine, A. Afenjar, 2016, American journal of medical genetics. Part A.

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

A. Munnich, D. Lacombe, F. Giuliano, 2020, European Journal of Human Genetics.

Oligonucleotide microarrays in constitutional genetic diagnosis

C. Le Caignec, B. Keren, 2011, Expert review of molecular diagnostics.

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.

Albert David, Christine Gicquel, Jun Okabe, 2010, Human molecular genetics.

Progressive polyepiphyseal dysplasia with arthropathy: A distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?

C. Le Caignec, B. Isidor, B. Bader-Meunier, 2012, American Journal of Medical Genetics. Part A.

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

I. Simonic, H. Firth, J. Vermeesch, 2013, European journal of medical genetics.

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.

C. Le Caignec, B. Isidor, O. Pichon, 2008, European journal of medical genetics.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

B. Gilbert-Dussardier, C. Rooryck, C. Bénéteau, 2017, European Journal of Human Genetics.

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

M. Shaw, J. Gécz, E. Thorland, 2020, American journal of human genetics.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9

C. Le Caignec, Y. Morel, O. Pichon, 2009, American journal of medical genetics. Part A.

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

C. Le Caignec, B. Isidor, O. Pichon, 2010, American journal of medical genetics. Part A.

Complete sex reversal in a WAGR syndrome patient

J. Vermeesch, C. Le Caignec, C. Delnatte, 2007, American journal of medical genetics. Part A.

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.

J. Vermeesch, J. Fryns, C. Le Caignec, 2005, European journal of medical genetics.

Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.

M. Le Cunff, C. Le Caignec, B. Isidor, 2008, European journal of medical genetics.

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

Identification of two novel mutations in Shh long‐range regulator associated with familial pre‐axial polydactyly

C. Le Caignec, B. Isidor, S. Bézieau, 2011, Clinical genetics.

Tibial developmental field defect in valproic acid embryopathy: Report on three cases

C. Le Caignec, B. Isidor, J. Laville, 2010, American journal of medical genetics. Part A.

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.

J. Rosenfeld, I. Krantz, Ankita Patel, 2015, Molecular cell.

De novo duplication and deletions at 7q in a three‐generation family

L. Pérez-Jurado, C. Le Caignec, B. Isidor, 2012, American journal of medical genetics. Part A.

Sonographic findings in Beckwith–Wiedemann syndrome related to H19 hypermethylation

C. Guyot, N. Winer, C. Gicquel, 2004, Prenatal diagnosis.

46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred

K. McElreavey, C. Le Caignec, A. David, 2003, American journal of medical genetics. Part A.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

N. de Leeuw, U. Surti, A. Pagnamenta, 2016, American journal of human genetics.

Oro-dental phenotype in patients with RUNX2 duplication.

C. Le Caignec, B. Isidor, Tony Prud’homme, 2019, European journal of medical genetics.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Olivier Tassy, P. Pennamen, C. Rooryck, 2022, American journal of medical genetics. Part A.

Congenital Heart Defects in Patients with Deletions Upstream of SOX9

A. Visel, L. Pennacchio, S. Lyonnet, 2013, Human mutation.

Barth syndrome in a female patient.

A. Toutain, C. Le Caignec, G. Simard, 2012, Molecular genetics and metabolism.

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.

Constitutional telomeric association (Y;7) in a patient with a female phenotype

C. Bénéteau, C. Le Caignec, A. David, 2013, American journal of medical genetics. Part A.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Homozygous PTEN deletion in neuroblastoma arising in a child with Cowden syndrome

O. Delattre, C. Le Caignec, B. Isidor, 2011, American journal of medical genetics. Part A.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

C. Mathew, M. Simpson, N. Mailand, 2022, Nature Communications.

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

L. Pasquier, C. Le Caignec, B. Paniel, 2011, Orphanet journal of rare diseases.

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations

A. Toutain, N. Winer, A. Verloes, 2014, American journal of medical genetics. Part A.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Sue Povey, Miikka Vikkula, Matthieu Schmittbuhl, 2013, Nephron Physiology.

Complex chromosomal rearrangement and intracytoplasmic sperm injection: a case report.

C. Le Caignec, N. Rives, S. Romana, 2007, Human reproduction.

Effects of eight neuropsychiatric copy number variants on human brain structure

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

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

R. Pfundt, T. Strom, H. Brunner, 2016, Nature Genetics.

The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders

E. Le Guern, S. Tardieu, O. Dubourg, 2001, Journal of Neurology.

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.

M. Wegner, C. Le Caignec, M. Goossens, 2000, Human molecular genetics.

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

M. Fichera, C. Romano, A. Fryer, 2014, American journal of medical genetics. Part A.

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

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.

Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.

C. Le Caignec, B. Isidor, C. Sultan, 2009, The Journal of clinical endocrinology and metabolism.

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

H. Ostrer, A. Sinclair, G. Camerino, 2010, American journal of human genetics.

Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p

N. Winer, C. Le Caignec, C. Delnatte, 2003, Prenatal diagnosis.

Optimization and evaluation of single‐cell whole‐genome multiple displacement amplification

L. Van Haute, K. Sermon, I. Liebaers, 2006, Human mutation.

Serpentine fibula‐polycystic kidney syndrome caused by truncating mutations in NOTCH2

C. Le Caignec, B. Isidor, V. Cormier-Daire, 2011, Human mutation.

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

A. Chaventré, C. Le Caignec, J. Schott, 2002, American journal of human genetics.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

J. Rosenfeld, M. Fichera, C. Romano, 2018, bioRxiv.

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Rita M Cantor, Stephan J Sanders, Christa Lese Martin, 2016, American journal of human genetics.

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila

B. V. van Bon, L. Vissers, B. D. de Vries, 2013, Journal of Medical Genetics.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

J. Rosenfeld, S. Spence, D. Ledbetter, 2016, JAMA psychiatry.

A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.

C. Le Caignec, B. Isidor, O. Pichon, 2019, European journal of medical genetics.

Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases

C. Le Caignec, A. David, M. Vincent, 2005, American journal of medical genetics. Part A.

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

R. Redon, C. Dina, E. Charpentier, 2016, Circulation. Cardiovascular genetics.

Prenatal diagnosis of a cleidocranial dysplasia‐like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation

N. Winer, C. Le Caignec, A. David, 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

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.

Delineation of 15q13.3 microdeletions

M. Holder, L. Vallée, B. Gilbert-Dussardier, 2010, Clinical genetics.

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

R. Redon, A. Toutain, C. Retière, 2019, American journal of human genetics.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Stephanie E. Vallee, J. Rosenfeld, E. Eichler, 2012, Human mutation.

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.

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

E. Lemyre, R. Møller, H. Hjalgrim, 2019, 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.

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

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

Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity

S. Jacquemont, C. Le Caignec, B. Isidor, 2008, American journal of medical genetics. Part A.

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

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

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

T. Frebourg, S. Jacquemont, C. Le Caignec, 2005, Journal of Medical Genetics.

Subtelomeric imbalances in phenotypically normal individuals

T. de Ravel, K. Devriendt, G. Mortier, 2007, Human mutation.

Distinct phenotype of PHF6 deletions in females.

B. Klink, C. Le Caignec, B. Isidor, 2014, European Journal of Medical Genetics.

Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth

C. Férec, C. Le Caignec, B. Isidor, 2007, American journal of medical genetics. Part A.

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.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

Single-cell chromosomal imbalances detection by array CGH

Yves Moreau, Jean-Pierre Fryns, Bernard Thienpont, 2006, Nucleic acids research.

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

C. Le Caignec, B. Isidor, Toshiyuki Yamamoto, 2011, American journal of medical genetics. Part A.

Copy number variation goes clinical

R. Redon, C. Le Caignec, 2009, Genome Biology.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

Signes extra-oraux arechercher face ades signes bucco-dentaires d'alerte de maladies d'origine genetique Extra-oral signs to look for in patients exhibiting oral warning signs of genetic diseases

C. Le Caignec, B. Alliot-Licht, S. Lopez-Cazaux, 2015 .

Inherited 18q23 duplication in a fetus with multiple congenital anomalies.

N. Winer, C. Le Caignec, B. Isidor, 2008, European journal of medical genetics.

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

A. Wilde, H. Tan, F. Sacher, 2009, Circulation: Cardiovascular Genetics.

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops

C. Bénéteau, S. Blesson, C. Le Caignec, 2014, Clinical 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.

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, American journal of respiratory and critical care medicine.

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Barbara N. Pusey, Janice S. Lee, A. V. Vulto-van Silfhout, 2015, American journal of human genetics.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

R. Pfundt, H. Mefford, D. Goldstein, 2018, Annals of neurology.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Comparison of Tumor- and Bone Marrow-Derived Mesenchymal Stromal/Stem Cells from Patients with High-Grade Osteosarcoma

C. Le Caignec, P. Layrolle, O. Pichon, 2018, International journal of molecular sciences.

Autosomal insertional translocation mimicking an X-linked mode of inheritance.

C. Le Caignec, O. Pichon, A. David, 2013, European journal of medical genetics.

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

J. Chrast, A. Reymond, Z. Kutalik, 2022, npj Genomic Medicine.

Inherited ring chromosome 8 without loss of subtelomeric sequences.

S. Jacquemont, C. Le Caignec, A. David, 2004, Annales de genetique.

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

K. Devriendt, H. Firth, S. Julia, 2013, European journal of medical genetics.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

K. Buysse, J. Clayton-Smith, G. Mortier, 2011, American journal of medical genetics. Part A.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

A. Munnich, D. Figarella-Branger, S. Küry, 2015, Orphanet Journal of Rare Diseases.

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

R. Redon, A. Munnich, B. Keavney, 2013, American journal of human genetics.

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster

R. Redon, D. Duboule, A. Mégarbané, 2019, European Journal of Human Genetics.

Prenatal diagnosis of a small supernumerary, XIST‐negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus

C. Fallet-Bianco, N. Winer, C. Le Caignec, 2003, Prenatal diagnosis.

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

J. Rosenfeld, K. Flanigan, K. Wierenga, 2019, Genetics in Medicine.

Genochondromatosis type II: Report of a new patient and further delineation of the phenotype

C. Le Caignec, B. Isidor, A. Hamel, 2007, American journal of medical genetics. Part A.

Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization

A. Toutain, C. Le Caignec, B. Isidor, 2009, American journal of medical genetics. Part A.

Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin‐36 receptor antagonist

S. Barbarot, C. Le Caignec, B. Isidor, 2015, The British journal of dermatology.

Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis

H. Ostrer, K. McElreavey, C. Le Caignec, 2003, Clinical genetics.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

J. Rosenfeld, P. Stankiewicz, R. Stevenson, 2021, American journal of human genetics.

A de novo ADCY5 mutation causes early‐onset autosomal dominant chorea and dystonia

N. Paul, P. Damier, C. Le Caignec, 2015, Movement disorders : official journal of the Movement Disorder Society.

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

P. Lapunzina, P. Blackburn, J. Nevado, 2019, European Journal of Human Genetics.

Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome

Albert David, C. Bénéteau, S. Barbarot, 2011, American journal of medical genetics. Part A.

Mandibular dysostosis without microphthalmia caused by OTX2 deletion

C. Le Caignec, B. Isidor, O. Pichon, 2016, American journal of medical genetics. Part A.

Familial autosomal dominant severe ankyloglossia with tooth abnormalities

R. Khonsari, C. Le Caignec, B. Isidor, 2018, American journal of medical genetics. Part A.

11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA

C. Le Caignec, O. Pichon, C. Dubourg, 2019, American journal of medical genetics. Part A.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

N. Winer, A. Paumier, D. Krakow, 2009, Prenatal diagnosis.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

S. Julia, C. Rooryck, F. Vialard, 2023, Prenatal diagnosis.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

P. Lockhart, M. Fichera, C. Romano, 2023, medRxiv.

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

Frédéric Sacher, Richard Redon, R. Redon, 2011, Journal of the American College of Cardiology.

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

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

Meeting report

R. Redon, P. Stankiewicz, C. Le Caignec, 2004, Cytotechnology.

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.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Joshua L. Deignan, Jessie R Jackson, E. Zackai, 2015, European Journal of Human Genetics.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

Patients with isolated oligo/hypodontia caused by RUNX2 duplication

C. Le Caignec, B. Isidor, O. Pichon, 2015, American journal of medical genetics. Part A.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

M. Fichera, C. Romano, A. Fryer, 2014, American journal of medical genetics. Part A.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

M. Fichera, S. Girirajan, C. Bénéteau, 2023, American journal of human genetics.

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.

Nurit Assia Batzir, J. Schuurs-Hoeijmakers, R. Pfundt, 2024, American journal of human genetics.

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

B. V. van Bon, B. D. de Vries, A. Toutain, 2012, American journal of medical genetics. Part A.

[Extra-oral signs to look for in patients exhibiting oral warning signs of genetic diseases].

C. Le Caignec, Serena Lopez-Cazaux, B. Alliot-Licht, 2015, Comptes rendus biologies.

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

E. Eichler, J. Chrast, A. Reymond, 2022, npj Genomic Medicine.