LR
0000-0002-1142-316X Employment
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Publications (60)
- WWOX -Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-Phenotype Save
- A founder variant expands the phenotype of WNT7B-related PDAC syndrome Save
- Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism Save
- Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy Save
- Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans Save
- Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia Save
- LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss Save
- Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy Save
- A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders Save
- Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement Save
- Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease Save
- FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children Save
- Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder Save
- Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability Save
- Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Save
- A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy Save
- A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome Save
- Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models Save
- The expandingLARS2phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy Save
- The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease Save