A. Masurel

发表

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

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

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.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of 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.

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

J. Gueant, C. Chéry, S. Odent, 2015, Orphanet Journal of Rare Diseases.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

G. Captier, H. Kayserili, M. Vezain, 2018, American journal of medical genetics. Part A.

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.

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.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

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

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

T. Arnesen, J. Rivière, G. Mancini, 2016, Human mutation.

Delineating FOXG1 syndrome

E. Haan, D. Lev, F. Rivier, 2018, Neurology: Genetics.

Functional classification of ATM variants in ataxia‐telangiectasia patients

T. Dörk, M. Stern, P. Calvas, 2019, Human mutation.

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

J. Rivière, S. Béjean, J. Thevenon, 2019, European Journal of Human Genetics.

Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood

Y. Béjot, M. Giroud, L. Faivre, 2014, European Neurology.

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Claire Redin, Jean Muller, Laurence Faivre, 2013, European Journal of Human Genetics.

Juvenile xanthogranuloma and nevus anemicus in the diagnosis of neurofibromatosis type 1.

Pierre Vabres, A. Masurel, L. Olivier-Faivre, 2014, JAMA dermatology.

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.

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.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

J. Rivière, S. Béjean, J. Thevenon, 2019, European Journal of Human Genetics.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

J. Rivière, J. Thevenon, L. Faivre, 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.

Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study

C. Chéry, A. Oussalah, S. Odent, 2020, EBioMedicine.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

N. Philip, A. Verloes, C. Lejeune, 2020, European journal of medical genetics.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

A. Brice, V. Drouin‐Garraud, C. Thauvin, 2014, Orphanet Journal of Rare Diseases.

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.

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

F. Rivier, P. Sabouraud, C. Barnérias, 2020, Frontiers in Pediatrics.

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.