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| 37964426 | Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design. | Mov Disord | 2024 |
| 36307226 | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>. | Neurology | 2023 |
| 35396997 | Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans. | Hum Mol Genet | 2023 |
| 36477332 | Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications. | Brain | 2023 |
| 34686905 | Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics. | Diabetologia | 2022 |
| 35586607 | Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood. | HGG Adv | 2022 |
| 35675825 | Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome. | Am J Hum Genet | 2022 |
| 35501400 | Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes. | Diabetologia | 2022 |
| 35718083 | Sedaghatian spondylometaphyseal dysplasia in two siblings. | Eur J Med Genet | 2022 |
| 35657381 | Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK). | Genet Med | 2022 |
| 35850704 | Recommendations for clinical interpretation of variants found in non-coding regions of the genome. | Genome Med | 2022 |
| 35869530 | Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory. | Genome Med | 2022 |
| 35904126 | De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder. | Hum Mutat | 2022 |
| 36351433 | EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. | Am J Hum Genet | 2022 |
| 35916866 | De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. | Genet Med | 2022 |
| 36046955 | Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model. | Clin Genet | 2022 |
| 35061023 | Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K. | Diabetes Care | 2022 |
| 35108381 | Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY. | Diabetes | 2022 |
| 35196516 | THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder. | Am J Hum Genet | 2022 |
| 35294448 | SavvyCNV: Genome-wide CNV calling from off-target reads. | PLoS Comput Biol | 2022 |
| 34789499 | Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young. | Diabetes | 2022 |
| 34744166 | Rapid genomic testing for critically ill children: time to become standard of care? | Eur J Hum Genet | 2022 |
| 32843488 | Assessing performance of pathogenicity predictors using clinically relevant variant datasets. | J Med Genet | 2021 |
| 33852861 | Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene. | Cell Rep | 2021 |
| 33596411 | SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. | Am J Hum Genet | 2021 |
| 33845882 | Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. | Genome Med | 2021 |
| 33811480 | Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). | Mol Genet Genomic Med | 2021 |
| 33637067 | A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report. | BMC Med Genomics | 2021 |
| 33632302 | Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. | Genome Med | 2021 |
| 34928108 | Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene. | Pediatr Endocrinol Diabetes Metab | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34375587 | Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders. | Am J Hum Genet | 2021 |
| 34566892 | Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K<sub>ATP</sub>-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital. | Front Endocrinol (Lausanne) | 2021 |
| 34739836 | Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders. | Am J Hum Genet | 2021 |
| 34143952 | Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. | Am J Hum Genet | 2021 |
| 34113002 | PIGG variant pathogenicity assessment reveals characteristic features within 19 families. | Genet Med | 2021 |
| 34023347 | Study of Acute Liver Failure in Children Using Next Generation Sequencing Technology. | J Pediatr | 2021 |
| 33999436 | Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. | Ann Neurol | 2021 |
| 33340421 | Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective. | Clin Endocrinol (Oxf) | 2021 |
| 33184150 | Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes. | Diabetes Care | 2021 |
| 33208383 | Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations. | J Med Genet | 2021 |
| 32631816 | <i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypes. | J Med Genet | 2021 |
| 32820876 | Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey | J Clin Res Pediatr Endocrinol | 2021 |
| 31026592 | Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd. | Eur J Med Genet | 2020 |
| 32001615 | Homozygous Hypomorphic <i>HNF1A</i> Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. | Diabetes Care | 2020 |
| 31815736 | Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes. | J Clin Invest | 2020 |
| 31704690 | Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study. | Diabetes Care | 2020 |
| 32027664 | Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389. | PLoS One | 2020 |
| 32027066 | Update of variants identified in the pancreatic β-cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. | Hum Mutat | 2020 |
| 31688097 | A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype. | Clin Dysmorphol | 2020 |