B. Demeer

发表

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

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

Incomplete penetrance of biallelic ALDH1A3 mutations.

P. Calvas, N. Chassaing, A. Verloes, 2016, European journal of medical genetics.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

A. Munnich, J. Clayton-Smith, S. Hanein, 2013, American journal of human genetics.

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

P. Calvas, N. Chassaing, M. Holder-Espinasse, 2013, 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.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

T. Strom, M. Lek, B. Lenhard, 2018, Brain : a journal of neurology.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical 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.

Monoallelic CRMP1 gene variants cause neurodevelopmental disorder

Y. Goshima, A. Dickmanns, Nobuto Arashiki, 2022, medRxiv.

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

S. Julia, M. Cossée, J. Mandel, 2011, American journal of medical genetics. Part A.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

L. Vallée, B. Echenne, M. Cossée, 2006, European Journal of Human Genetics.

A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation

J. Gondry, H. Sevestre, B. Demeer, 2014, American journal of medical genetics. Part A.

Emergency management of a congenital teratoma of the oral cavity at birth and three-year follow-up.

B. Devauchelle, S. Dakpé, B. Demeer, 2014, International journal of oral and maxillofacial surgery.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

M. Ross, G. Captier, C. Gondry-Jouet, 2019, Nature Genetics.

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

S. Julia, J. Rivière, A. Verloes, 2018, Journal of Medical Genetics.

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes

R. Helaers, M. Vikkula, B. Devauchelle, 2018, Journal of Medical 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.

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

Y. Le Bouc, S. Chantot-Bastaraud, J. Siffroi, 2017, Journal of Medical Genetics.

Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations

L. Faivre, J. Bacchetta, M. Gérard, 2019, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

P. Bénit, A. Mégarbané, P. Rustin, 2013, Human molecular genetics.

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.

F. Escande, J. Andrieux, B. Demeer, 2013, European journal of medical genetics.

Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review

C. Gondry-Jouet, J. Gondry, C. Klein, 2017, American journal of medical genetics. Part A.

Unmasking familial CPX by WES and identification of novel clinical signs

R. Helaers, M. Vikkula, B. Devauchelle, 2018, American journal of medical genetics. Part A.

Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients

R. Helaers, M. Vikkula, B. Devauchelle, 2019, Genes.

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

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

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

J. Rivière, A. Verloes, J. Thevenon, 2017, Clinical genetics.

[What management for the asymptomatic men carriers of BRCA1 or 2 mutation? Results of a survey in the French oncogenetic centers].

J. Gondry, M. Mathieu, B. Demeer, 2012, Bulletin du cancer.

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations

P. Fergelot, J. Toutain, D. Lacombe, 2019, Clinical genetics.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

J. Crolla, I. Temple, Meredith Wilson, 2015, American journal of medical genetics. Part A.

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 .

A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation

J. Gondry, H. Sevestre, B. Demeer, 2014, American journal of medical genetics. Part A.