Area of research
Genetics · Physiology
Research interest
Research focused on Ataxia and Genetics, with related work in Cerebellar ataxia, Cohort, Accreditation. Notable publications include 'Mortality after surgery in Europe: a 7 day cohort study', 'A Revised Timescale for Human Evolution Based on Ancient Mitochondrial Genomes', and 'Guidelines for diagnostic next-generation sequencing'.
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
Biallelic null variants in <i>PNPLA8</i> cause microcephaly by reducing the number of basal radial glia
A pleiotropic recurrent dominant <i>ITPR3</i> variant causes a complex multisystemic disease
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease
The clinical and genetic spectrum of autosomal-recessive <i>TOR1A</i>-related disorders
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study
Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease
Recommendations for whole genome sequencing in diagnostics for rare diseases
Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
T cells of colorectal cancer patients’ stimulated by neoantigenic and cryptic peptides better recognize autologous tumor cells
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
<scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications