| 37257449 | Resistance to mesenchymal reprogramming sustains clonal propagation in metastatic breast cancer. | | 2023 |
| 37650884 | Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. | Genet Med | 2023 |
| 36757831 | The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. | Brain | 2023 |
| 35165720 | Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study. | Eur J Public Health | 2022 |
| 35379322 | Clinical implementation of RNA sequencing for Mendelian disease diagnostics. | Genome Med | 2022 |
| 35670808 | Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. | Genet Med | 2022 |
| 35180557 | Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases. | EBioMedicine | 2022 |
| 35179199 | Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders. | Hum Mol Genet | 2022 |
| 34424768 | Identification of a Functional <i>PDE5A</i> Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction Family. | Circulation | 2021 |
| 33970200 | Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. | Brain | 2021 |
| 33963192 | Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. | Nat Commun | 2021 |
| 33475190 | Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavage. | FASEB J | 2021 |
| 34108472 | Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. | Nat Commun | 2021 |
| 33465056 | Impaired complex I repair causes recessive Leber's hereditary optic neuropathy. | J Clin Invest | 2021 |
| 33619735 | De novo variants in neurodevelopmental disorders-experiences from a tertiary care center. | Clin Genet | 2021 |
| 33459760 | Bi-allelic truncating mutations in VWA1 cause neuromyopathy. | Brain | 2021 |
| 33614378 | A novel homozygous variant in exon 10 of the gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India. | Intractable and Rare Diseases Research | 2021 |
| 33876960 | Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing. | CRISPR J | 2021 |
| 33611074 | Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. | Parkinsonism and Related Disorders | 2021 |
| 33930582 | TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype. | European Journal of Medical Genetics | 2021 |
| 32887937 | Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS. | Eur J Hum Genet | 2021 |
| 33259146 | A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. | Ann Clin Transl Neurol | 2021 |
| 32980981 | A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke. | Journal of Neurology | 2021 |
| 34480796 | Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. | Brain | 2021 |
| 31407473 | Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach. | Eur J Neurol | 2020 |
| 32433956 | MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome. | Cell Reports | 2020 |
| 32359821 | Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies. | American Journal of Kidney Diseases | 2020 |
| 32065501 | Nine newly identified individuals refine the phenotype associated with MYT1L mutations. | Am J Med Genet A | 2020 |
| 32305867 | Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. | EBioMedicine | 2020 |
| 32004447 | Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. | Am J Hum Genet | 2020 |
| 31834374 | MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. | Brain | 2020 |
| 32099069 | Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. | Genet Med | 2020 |
| 32212377 | Human RAD50 deficiency: Confirmation of a distinctive phenotype. | American Journal of Medical Genetics, Part A | 2020 |
| 32086284 | Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes. | J Med Genet | 2020 |
| 33098801 | Monogenic variants in dystonia: an exome-wide sequencing study. | Lancet Neurol | 2020 |
| 32763190 | Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. | Am J Hum Genet | 2020 |
| 32707086 | Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. | Am J Hum Genet | 2020 |
| 33096486 | Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]. | EBioMedicine | 2020 |
| 33144514 | The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>. | Neurology | 2020 |
| 33028849 | Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy. | Sci Rep | 2020 |
| 32799315 | Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. | Clinical Genetics | 2020 |
| 32515053 | Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3. | FASEB Journal | 2020 |
| 32629324 | Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia. | Parkinsonism and Related Disorders | 2020 |
| 33282382 | Acute Stanford type B aortic dissection-who benefits from genetic testing? | Journal of Thoracic Disease | 2020 |
| 33009664 | Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. | Clinical Genetics | 2020 |
| 30778172 | Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment. | European Journal of Human Genetics | 2019 |
| 31903434 | Rare genetic variants in patients with cervical artery dissection. | European Stroke Journal | 2019 |
| 32694784 | Functional identity of hypothalamic melanocortin neurons depends on Tbx3. | Nat Metab | 2019 |
| 30556293 | Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. | Am J Med Genet A | 2019 |
| 29923093 | A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy. | JIMD Rep | 2019 |