S. Bouquillon

发表

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

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

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.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

A. Afenjar, T. Roscioli, A. Verloes, 2018, neurogenetics.

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study

R. Touraine, E. Leroy-Terquem, Z. Assaf, 2019, Archives of Disease in Childhood.

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.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

Interstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?

A. Kremer, M. Knapen, L. V. van Zutven, 2016, Molecular Cytogenetics.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

M. Holder-Espinasse, A. Verloes, M. Carella, 2014, European Journal of Human 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 French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

N. Le Meur, C. Bénéteau, C. Yardin, 2014, Prenatal diagnosis.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

A. Verloes, J. Andrieux, A. Aboura, 2010, European journal of medical genetics.

Effects of eight neuropsychiatric copy number variants on human brain structure

Allison G. Dempsey, M. Owen, R. Buckner, 2021, Translational Psychiatry.

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

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

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Allison G. Dempsey, S. Spence, D. Ledbetter, 2012, Journal of Medical Genetics.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

M. Lemaître, L. Vallée, B. Gilbert-Dussardier, 2015, 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.

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

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

ELN gene triplication responsible for familial supravalvular aortic aneurysm

G. Jondeau, J. M. van de Kamp, C. Boileau, 2014, Cardiology in the Young.

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.

L. Storme, J. Andrieux, S. Bouquillon, 2011, European Journal of Medical Genetics.

A novel highly-penetrant form of obesity due to microdeletions on chromosome 16p11.2

P. Elliott, M. Jarvelin, L. Coin, 2009, Nature.

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 .