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Sonia Bouquillon | Researchclopedia

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Sonia Bouquillon

Hôpital Jeanne de Flandre

31

Works

2,243

Citations

16

h-index

21

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Congenital heart defects research Genetics and Neurodevelopmental Disorders

Affiliations

Université de Lille2014–2019

Centre Hospitalier Universitaire de Lille2010–2024

Hôpital Jeanne de Flandre2010–2025

Groupe Hospitalier de l'Institut Catholique de Lille2008–2008

Hôpital Saint-Vincent-de-Paul2008–2008

Top Works

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters,Sébastien Jacquemont,et al.

2010557 citations

Genomics and Rare Diseases

Neonatal Respiratory Health Research

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

Sébastien Jacquemont,Alexandre Reymond,et al.

2011476 citations

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

Flore Zufferey,Elliott H. Sherr,et al.

2012353 citations

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

Clémence Vanlerberghe,Florence Petit,et al.

2015121 citations

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Sandra Martin-Brevet,Borja Rodríguez‐Herreros,et al.

201891 citations

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Eugenia Migliavacca,Christelle Golzio,et al.

201571 citations

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Eva M. Reinthaler,Dennis Lal,et al.

201469 citations

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Laïla El Khattabi,Fabien Guimiot,et al.

201467 citations

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Justine Besseau-Ayasse,C. Violle-Poirsier,et al.

201459 citations