Area of research
Genetics · Molecular Biology
Research interest
Research focused on Genetics and Fragility, with related work in Chromatin remodeling, Kabuki syndrome, Coffin. Notable publications include 'Mutations in WNT1 Cause Different Forms of Bone Fragility', 'A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling', and 'Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2'.
Engineered heart muscle allografts for heart repair in primates and humans
Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening
<scp>KRAS<sup>G</sup></scp><sup>12<scp>C</scp></sup>‐inhibitor‐based combination therapies for pancreatic cancer: insights from drug screening
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
An NFATc1/SMAD3/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational Therapies
Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patients
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
Biallelic variants in YRDC cause a developmental disorder with progeroid features
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Human <scp><i>RAD50</i></scp> deficiency: Confirmation of a distinctive phenotype
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
PEDIA: prioritization of exome data by image analysis
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2
Specific mosaic <i><scp>KRAS</scp></i> mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
Mutations in WNT1 Cause Different Forms of Bone Fragility
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss