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Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia nigra. We previously mapped a locus for a rare familial form of PD toExpand
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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual duringExpand
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Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.
Parkinson's disease (PD) is a progressive neurodegenerative illness associated with a selective loss of dopaminergic neurons in the nigrostriatal pathway of the brain. Despite the overall rarity ofExpand
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inheritedExpand
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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneousExpand
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Noonan and LEOPARD syndromes are developmental disorders with overlapping features, including cardiac abnormalities, short stature and facial dysmorphia. Increased RAS signaling owing to PTPN11, SOS1Expand
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PINK1 mutations are associated with sporadic early‐onset parkinsonism
We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early‐onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenicExpand
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Joubert Syndrome and related disorders
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complexExpand
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Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomalExpand
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Common variants at five new loci associated with early-onset inflammatory bowel disease
The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of aExpand
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