N. Marle

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

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

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

A. Hoischen, H. Peeters, E. Eichler, 2014, Genetics in Medicine.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

W. Reardon, R. Touraine, A. Afenjar, 2017, Clinical genetics.

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.

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.

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

L. Faivre, C. Thauvin-Robinet, P. Callier, 2011, European journal of medical genetics.

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

J. Rivière, J. Thevenon, L. Faivre, 2014, European Journal of Human Genetics.

Cohen syndrome is associated with major glycosylation defects.

E. Solary, J. Rivière, J. Thevenon, 2014, Human molecular 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.

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

J. Thevenon, L. Faivre, C. Philippe, 2012, Journal of Medical Genetics.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

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

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

R. Petralia, E. Guedj, J. Thevenon, 2015, European Journal of Human Genetics.

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH

J. Thevenon, L. Faivre, C. Philippe, 2022, Annals of human genetics.

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

E. Blair, L. Faivre, C. Thauvin-Robinet, 2015, Human molecular genetics.

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

S. Vokes, P. Jouk, J. Thevenon, 2014, American journal of medical genetics. Part A.

Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome

L. Faivre, C. Thauvin-Robinet, P. D'Athis, 2008, American Journal of Medical Genetics. Part A.

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

B. Menten, Z. Tümer, J. Thevenon, 2013, Journal of Medical Genetics.

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.

Cytogenetic and array‐CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome

A. De Paepe, L. Faivre, C. Thauvin-Robinet, 2010, American journal of medical genetics. Part A.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses

L. Faivre, G. Lefort, C. Thauvin-Robinet, 2011, Prenatal diagnosis.

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat‐like cry critical region

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2011, American journal of medical genetics. Part A.

Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus

F. Dhombres, J. Rivière, M. Gonzalès, 2017, The British journal of dermatology.

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

L. Faivre, C. Thauvin-Robinet, P. Callier, 2009, American journal of medical genetics. Part A.

Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility

D. Le Tessier, J. Dupont, P. Callier, 2008, American journal of medical genetics. Part A.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Magalie S Leduc, M. Konantz, C. Lengerke, 2017, The Journal of clinical investigation.

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.

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

T. Bourgeron, R. Delorme, D. Campion, 2015, European Journal of Human Genetics.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2015, Molecular Cytogenetics.

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

L. Faivre, C. Thauvin-Robinet, S. Kjaergaard, 2013, American journal of medical genetics. Part A.

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

J. Thevenon, L. Faivre, P. Jonveaux, 2015, JIMD reports.

What can we learn from old microdeletion syndromes using array‐CGH screening?

L. Faivre, P. Jonveaux, C. Thauvin-Robinet, 2012, Clinical genetics.

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

A. Reymond, A. Pagnamenta, S. Knight, 2020, bioRxiv.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2013, PloS one.

Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri‐du‐chat syndrome

P. Jonveaux, P. Callier, N. Marle, 2007, American journal of medical genetics. Part A.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2009, Prenatal diagnosis.

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array‐CGH

M. Giroud, L. Faivre, C. Thauvin-Robinet, 2009, American journal of medical genetics. Part A.

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2012, European Journal of Human Genetics.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Syndromic encephalocele in a fetal case with a 1p35‐pter deletion and a 14q32‐qter duplication inherited from a maternal balanced translocation

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2007, Prenatal diagnosis.

Detection of an interstitial 3q21.1‐q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia

L. Faivre, C. Thauvin-Robinet, P. D'Athis, 2009, American journal of medical genetics. Part A.

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.

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

A. Boland, J. Deleuze, E. Colin, 2023, Frontiers in Cell and Developmental Biology.

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

L. Gallagher, E. Haffen, C. Depienne, 2012, Journal of Medical Genetics.

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

C. V. van Ravenswaaij-Arts, A. Verloes, L. Faivre, 2020, Clinical genetics.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

R. Touraine, J. Mandel, J. Thevenon, 2020, Journal of Medical Genetics.

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.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

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.

Additional evidence to support the role of the 20q13.33 region in susceptibility to autism

Nathalie Lagarde, L. Faivre, P. Jonveaux, 2013, American journal of medical genetics. Part A.

Usefulness of Simultaneous Detection of Toxin A and Glutamate Dehydrogenase for the Diagnosis of Clostridium difficile-Associated Diseases

N. Marle, F. Barbut, V. Lalande, 2000, European Journal of Clinical Microbiology and Infectious Diseases.

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).

L. Faivre, C. Thauvin-Robinet, G. Malka, 2007, European journal of medical genetics.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

C. Rooryck, L. Pasquier, E. Colin, 2023, Frontiers in Genetics.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

P. Chambon, L. Faivre, S. Jacquemont, 2014, Clinical genetics.

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2015, Molecular Cytogenetics.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2005, American journal of medical genetics. Part A.

Evaluation of the Tosoh HLC-723GHb V A1c 2.2 hemoglobin A1c analyzer.

F. Trivin, R. Ducrocq, N. Marle, 1999, Clinical biochemistry.

Major feeding difficulties in the first reported case of interstitial 20q11.22‐q12 microdeletion and molecular cytogenetic characterization

L. Faivre, C. Thauvin-Robinet, M. Prieur, 2006, American journal of medical genetics. Part A.