| 36006803 | NOD2 in Crohn's Disease-Unfinished Business. | J Crohns Colitis | 2023 |
| 37633279 | Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. | Am J Hum Genet | 2023 |
| 37628633 | A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases. | Genes (Basel) | 2023 |
| 37079872 | The Pediatric Crohn Disease Morbidity Index (PCD-MI): Development of a Tool to Assess Long-Term Disease Burden Using a Data-Driven Approach. | J Pediatr Gastroenterol Nutr | 2023 |
| 36945502 | Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data. | medRxiv | 2023 |
| 37208336 | Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis. | Nat Commun | 2023 |
| 36778464 | A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service. | medRxiv | 2023 |
| 36148635 | A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease. | Clin Genet | 2023 |
| 36161322 | Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker. | Inflamm Bowel Dis | 2023 |
| 36121441 | Response to Ramos et al. | Genet Med | 2022 |
| 35678782 | Rare pathogenic variants in WNK3 cause X-linked intellectual disability. | Genet Med | 2022 |
| 35759535 | Treatment of Multisystem Inflammatory Syndrome in Children: Understanding Differences in Results of Comparative Effectiveness Studies. | ACR Open Rheumatol | 2022 |
| 35532742 | A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes. | Genet Med | 2022 |
| 36408368 | A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. | HGG Adv | 2022 |
| 35904126 | De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder. | Hum Mutat | 2022 |
| 35903804 | The immunopathogenesis of SARS-CoV-2 infection in children: diagnostics, treatment and prevention. | Clin Transl Immunology | 2022 |
| 34373650 | Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 33536625 | Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2021 |
| 33508234 | De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. | Am J Hum Genet | 2021 |
| 33772158 | Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease. | Eur J Hum Genet | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34133854 | Treatment of Multisystem Inflammatory Syndrome in Children. | N Engl J Med | 2021 |
| 34220947 | Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes. | Front Genet | 2021 |
| 31562974 | The Career Impact of the National Undergraduate Neuroanatomy Competition. | World Neurosurg | 2020 |
| 32461654 | The mutational constraint spectrum quantified from variation in 141,456 humans. | Nature | 2020 |
| 32393978 | Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies. | Brief Funct Genomics | 2020 |
| 30332529 | The Efficacy of Frontline Near-Peer Teaching in a Modern Medical Curriculum. | Anat Sci Educ | 2019 |
| 31070705 | Identification of disease-associated loci using machine learning for genotype and network data integration. | Bioinformatics | 2019 |
| 29193635 | Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. | Hum Mutat | 2018 |
| 30376835 | Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. | BMC Nephrol | 2018 |
| 29573152 | The benefits of being a near-peer teacher. | Clin Teach | 2018 |
| 28993886 | Thrombotic microangiopathy following haematopoietic stem cell transplant. | Pediatr Nephrol | 2018 |
| 27811305 | <i>AMMECR1</i>: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. | J Med Genet | 2017 |
| 28589114 | Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm. | Front Pediatr | 2017 |
| 27037749 | Can medical students accurately predict their learning? A study comparing perceived and actual performance in neuroanatomy. | Anat Sci Educ | 2016 |
| 26654982 | Exome sequencing explained: a practical guide to its clinical application. | Brief Funct Genomics | 2016 |
| 26346198 | Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. | Nephrol Dial Transplant | 2016 |
| 27456059 | Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. | Sci Rep | 2016 |
| 27418539 | Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephaly. | J Med Genet | 2016 |
| 27293772 | Progressive myoclonic epilepsy with Fanconi syndrome. | JRSM Open | 2016 |
| 27381324 | Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium. | Heredity (Edinb) | 2016 |
| 27097352 | Genome-wide Association Studies in Infectious Diseases. | Pediatr Infect Dis J | 2016 |
| 24252791 | Bullous herpes zoster. | J Pediatr | 2014 |