B. Duban‐Bedu

发表

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

A. Toutain, P. Calvas, N. Chassaing, 2014, Clinical genetics.

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

C. Rooryck, D. Lacombe, H. Dollfus, 2010, Human Genetics.

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

G. Cooper, M. Williamson, A. McNeill, 2017, PLoS Genetics.

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

P. Stankiewicz, P. Szafranski, S. Cheung, 2014, BMC Medical Genetics.

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

S. Bouquillon, C. Roche-Lestienne, A. Dieux-Coeslier, 2019, neurogenetics.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

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

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

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, Nature Communications.

Systematic analysis and prediction of genes associated with disorders on chromosome X

J. Gécz, N. Drouot, P. Striano, 2022, medRxiv.

Identification of two novel loss‐of‐function SIM1 mutations in two overweight children with developmental delay

D. Meyre, P. Froguel, A. Bonnefond, 2014, Obesity.

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.

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell– Silver syndrome

M. Holder-Espinasse, B. Delobel, B. Duban-Bedu, 2012, Clinical genetics.

A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay.

L. Vallée, J. Andrieux, B. Delobel, 2011, European journal of medical genetics.

Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features.

J. Andrieux, B. Delobel, S. Bouquillon, 2009, European journal of medical genetics.

Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

A. Afenjar, N. Philip, D. Lacombe, 2018, Clinical 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.

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome

B. Delobel, C. Vincent‐Delorme, E. Boudry-Labis, 2018, European Journal of Human Genetics.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

L. Pasquier, P. Latour, J. Andrieux, 2009, European journal of medical genetics.

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.

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).

H. Galehdari, T. Frebourg, R. Maroofian, 2020, European journal of medical genetics.

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.

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.

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.

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

K. Devriendt, H. Firth, J. Vermeesch, 2015, European Journal of Human Genetics.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.

J. Andrieux, B. Delobel, F. Leprêtre, 2008, European journal of medical genetics.

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

B. Klink, C. Bénéteau, J. Thevenon, 2022, Clinical genetics.

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

G. Annéren, J. Andrieux, B. Delobel, 2013, European journal of medical genetics.

[Multiple familial trichoepithelioma: a new CYLD gene mutation].

P. Gosset, P. Modiano, A. Lasek-Duriez, 2013, Annales de dermatologie et de vénéréologie.

A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome

B. Delobel, C. Vincent‐Delorme, B. Duban-Bedu, 2018, European Journal of Human Genetics.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Identification of two novel loss‐of‐function SIM1 mutations in two overweight children with developmental delay

D. Meyre, P. Froguel, A. Bonnefond, 2014, Obesity.