Anne-Laure Mosca-Boidron

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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.

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.

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Patrick Callier, Antonio Vitobello, Yannis Duffourd, 2020, Molecular genetics & genomic medicine.

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Patrick Callier, Ange-Line Bruel, Sophie Nambot, 2017, Genetics in Medicine.

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.

Further Evidence for DLGAP2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene

L. Faivre, S. E. Chehadeh, Hélène Poquet, 2017 .

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

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

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

S. Kushner, F. Lecoquierre, J. Thevenon, 2020, Human Genetics.

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

S. Kushner, F. Lecoquierre, J. Thevenon, 2020, Human Genetics.

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

J. Thevenon, L. Faivre, C. Philippe, 2021, Molecular genetics and metabolism reports.

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.

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.

Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the OFD1 gene

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

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.

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.

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

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

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

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

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

J. Mandel, B. Gilbert-Dussardier, J. Thevenon, 2017, European Journal of Human Genetics.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature Genetics.

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Maxime W. C. Rousseaux, H. Zoghbi, Zhandong Liu, 2017, Nature 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.

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.

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.

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.

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

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

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.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European Journal of Human Genetics.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

J. Rivière, J. Thevenon, L. Faivre, 2017, European journal of medical genetics.

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases

L. Faivre, C. Philippe, C. Thauvin-Robinet, 2021, Molecular genetics & genomic medicine.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

G. Cooper, P. Fergelot, K. Devriendt, 2020, European 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.

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.

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.

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Golder N Wilson, I. Simonic, Soo-Mi Park, 2017, Journal of Medical Genetics.

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.

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

D. Skuse, A. McQuillin, N. Bass, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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.

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.

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2018, American journal of medical genetics. Part A.

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

F. Lecoquierre, J. Thevenon, A. Telegrafi, 2018, Genetics in Medicine.

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.

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

T. Bourgeron, R. Delorme, R. Yuen, 2016, Molecular Psychiatry.

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

T. Bourgeron, R. Delorme, C. Gillberg, 2016, Molecular Psychiatry.

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.

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.

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

J. Deleuze, J. Thevenon, L. Faivre, 2019, European 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.

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.

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.