Mafalda Mucciolo

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

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of <i>ARID1B</i>

Christina Halgren, Mads Bak, Christine Søholm Hansen et al. · Clinical Genetics · 2011 · 139 citations · Full text

Genetics, Disability, Molecular Biology +26

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

Vittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli et al. · American Journal of Medical Genetics Part A · 2014 · 96 citations

Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (<i>PARN</i>)

Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau et al. · Journal of Medical Genetics · 2015 · 88 citations

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

Eugenia Migliavacca, Christelle Golzio, Katrin Männik et al. · The American Journal of Human Genetics · 2015 · 71 citations · Full text

Clinical Disorders, Ciliary Dysfunction, Disease Pathophysiology +7