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| 37553803 | Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn. | Ann Clin Transl Neurol | 2023 |
| 37794925 | Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. | Brain Commun | 2023 |
| 37946251 | Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases. | Genome Med | 2023 |
| 37644171 | CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. | Eur J Hum Genet | 2023 |
| 37157895 | Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome. | Clin Genet | 2023 |
| 37119330 | AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. | Acta Neuropathol | 2023 |
| 36896672 | The prevalence and phenotypic range associated with biallelic PKDCC variants. | Clin Genet | 2023 |
| 36411030 | Conclusion of diagnostic odysseys due to inversions disrupting <i>GLI3</i> and <i>FBN1</i>. | J Med Genet | 2023 |
| 36322149 | Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: AÂ genotype-phenotype correlation study. | Genet Med | 2023 |
| 34183358 | Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability. | J Med Genet | 2022 |
| 35668994 | The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing. | J Endocr Soc | 2022 |
| 35662467 | Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation. | J Mol Biol | 2022 |
| 33547136 | Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutation. | J Med Genet | 2022 |
| 34612517 | Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects. | Clin Genet | 2022 |
| 34782440 | Variable skeletal phenotypes associated with biallelic variants in <i>PRKG2</i>. | J Med Genet | 2022 |
| 32901138 | A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. | Eur J Hum Genet | 2021 |
| 33742045 | Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma. | Sci Rep | 2021 |
| 33712616 | Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening. | Nat Commun | 2021 |
| 33847017 | Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. | Hum Mutat | 2021 |
| 34860543 | FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency. | Sci Adv | 2021 |
| 34480796 | Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. | Brain | 2021 |
| 33970200 | Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. | Brain | 2021 |
| 34010605 | A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8. | Am J Hum Genet | 2021 |
| 34031572 | Biparental inheritance of mitochondrial DNA revisited. | Nat Rev Genet | 2021 |
| 34022130 | Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. | Am J Hum Genet | 2021 |
| 33250374 | Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter. | Neuromuscul Disord | 2021 |
| 33308444 | SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. | Am J Hum Genet | 2021 |
| 31358947 | The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. | Genet Med | 2020 |
| 32061125 | MichelaNglo: sculpting protein views on web pages without coding. | Bioinformatics | 2020 |
| 32776440 | Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia. | Am J Med Genet A | 2020 |
| 32572023 | The role of rare compound heterozygous events in autism spectrum disorder. | Transl Psychiatry | 2020 |
| 30365943 | A novel role for CRIM1 in the corneal response to UV and pterygium development. | Exp Eye Res | 2019 |
| 31353023 | De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. | Am J Hum Genet | 2019 |
| 31345272 | Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series. | Genome Med | 2019 |
| 31455402 | Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum. | Stem Cell Res Ther | 2019 |
| 31363758 | Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice. | Hum Mol Genet | 2019 |
| 31015479 | Sequencing of human genomes with nanopore technology. | Nat Commun | 2019 |
| 30737342 | Clinical spectrum of <i>STX1B</i>-related epileptic disorders. | Neurology | 2019 |
| 30859559 | Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. | Clin Genet | 2019 |
| 30783266 | Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. | Genet Med | 2019 |
| 29573052 | A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. | Hum Mutat | 2018 |
| 30245030 | Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. | Am J Hum Genet | 2018 |
| 30449657 | Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. | Neuron | 2018 |
| 29469822 | Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. | Genet Med | 2018 |
| 29286390 | A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations. | J Vis Exp | 2017 |
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| 26818911 | Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2). | J Bone Miner Res | 2016 |
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