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De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
- Published in:
- Annals of Neurology, 2024, v. 95, n. 2, p. 365, doi. 10.1002/ana.26826
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- Article
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
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- Movement Disorders, 2024, v. 39, n. 1, p. 141, doi. 10.1002/mds.29651
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- Article
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 6, p. 2285, doi. 10.1093/brain/awac461
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- Article
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
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- Human Molecular Genetics, 2023, v. 32, n. 4, p. 580, doi. 10.1093/hmg/ddac225
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- Article
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
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- Human Molecular Genetics, 2023, v. 32, n. 3, p. 353, doi. 10.1093/hmg/ddac084
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- Article
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model.
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- Clinical Genetics, 2022, v. 102, n. 6, p. 494, doi. 10.1111/cge.14220
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- Article
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder.
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- Human Mutation, 2022, v. 43, n. 12, p. 1844, doi. 10.1002/humu.24444
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- Article
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01082-2
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- Publication type:
- Article
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
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- Diabetologia, 2022, v. 65, n. 7, p. 1179, doi. 10.1007/s00125-022-05697-3
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- Article
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
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- 2022
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- Publication type:
- journal article
SavvyCNV: Genome-wide CNV calling from off-target reads.
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- PLoS Computational Biology, 2022, v. 18, n. 3, p. 1, doi. 10.1371/journal.pcbi.1009940
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- Article
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
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- 2022
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- Publication type:
- journal article
Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.
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- 2022
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- Publication type:
- journal article
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
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- Diabetologia, 2022, v. 65, n. 2, p. 336, doi. 10.1007/s00125-021-05597-y
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- Article
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1674
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- Publication type:
- Article
Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2021, v. 27, n. 4, p. 287, doi. 10.5114/pedm.2021.107719
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- Article
Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K<sub>ATP</sub>-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.727083
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- Article
Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective.
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- Clinical Endocrinology, 2021, v. 95, n. 2, p. 295, doi. 10.1111/cen.14395
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- Article
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
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- 2021
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- journal article
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00873-3
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- Article
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey.
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- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 1, p. 80, doi. 10.4274/jcrpe.galenos.2020.2020.0093
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- Publication type:
- Article
A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00901-6
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- Article
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00850-w
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- Publication type:
- Article
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated Permanent Neonatal Diabetes.
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- 2021
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- Publication type:
- journal article
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.
- Published in:
- Diabetologia, 2020, v. 63, n. 12, p. 2605, doi. 10.1007/s00125-020-05276-4
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- Article
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2403, doi. 10.1002/ajmg.a.61781
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- Article
Response to Comment on Misra et al. Homozygous Hypomorphic Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes. Diabetes Care 2020;43:909-912.
- Published in:
- 2020
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- Publication type:
- letter
Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.
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- Clinical Chemistry, 2020, v. 66, n. 7, p. 958, doi. 10.1093/clinchem/hvaa104
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- Article
HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
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- Clinical Genetics, 2020, v. 98, n. 1, p. 91, doi. 10.1111/cge.13765
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- Publication type:
- Article
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.
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- Human Mutation, 2020, v. 41, n. 5, p. 884, doi. 10.1002/humu.23995
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- Article
Homozygous Hypomorphic Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes.
- Published in:
- 2020
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- Publication type:
- journal article
De Novo Mutations in Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.
- Published in:
- 2020
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- Publication type:
- journal article
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.
- Published in:
- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0228417
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- Article
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.
- Published in:
- 2020
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- Publication type:
- journal article
Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.
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- 2020
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- Publication type:
- journal article
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.
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- Diabetes Care, 2020, v. 43, n. 1, p. 82, doi. 10.2337/dc19-0747
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- Publication type:
- Article
Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.
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- Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 14, doi. 10.1172/JCI133516
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- Publication type:
- Article
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
- Published in:
- Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0690-2
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- Publication type:
- Article
The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma: A systematic review.
- Published in:
- Clinical Endocrinology, 2019, v. 91, n. 6, p. 697, doi. 10.1111/cen.14060
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- Publication type:
- Article
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 12, p. 2258, doi. 10.1210/js.2019-00260
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- Publication type:
- Article
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 21, p. 3543, doi. 10.1093/hmg/ddz200
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- Article
Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.
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- 2019
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- Publication type:
- journal article
Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 4, p. 699, doi. 10.1210/js.2018-00417
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- Publication type:
- Article
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 1, p. 82, doi. 10.4274/jcrpe.galenos.2018.2018.0077
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- Publication type:
- Article
A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.
- Published in:
- Diabetologia, 2018, v. 61, n. 12, p. 2520, doi. 10.1007/s00125-018-4728-6
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- Publication type:
- Article
Cover Image, Volume 176A, Number 11, November 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. i, doi. 10.1002/ajmg.a.61022
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- Publication type:
- Article
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
- Published in:
- Clinical Endocrinology, 2018, v. 89, n. 5, p. 621, doi. 10.1111/cen.13841
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- Publication type:
- Article
Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.
- Published in:
- Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00619
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- Publication type:
- Article
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.
- Published in:
- Pediatric Diabetes, 2018, v. 19, p. 47, doi. 10.1111/pedi.12772
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- Publication type:
- Article
Cover Image, Volume 176A, Number 9, September 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1, doi. 10.1002/ajmg.a.40660
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- Article