Correspondence on "Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder" by Cuinat et al

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases.

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Exploratory bioinformatics analysis for identifying candidate biomarkers of type 1 diabetes mellitus.

PeerJ·2026

Expanding the Phenotypic and Functional Evidence for KCNK3 as a Neurodevelopmental Disorder Gene: A New Chinese Case and Drosophila Validation.

Clinical genetics·2026

Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case report.

Frontiers in endocrinology·2026

The application of the radiomic-clinical model based on SHAP-XGBoost method for differentiating pulmonary tuberculosis from Streptococcus pneumoniae pneumonia in children.

Frontiers in medicine·2026

Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADH.

Orphanet journal of rare diseases·2026

Mainstreaming genetic testing: Evaluation of the Australian Familial Melanoma Clinic.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

CHARGE free cascade genetic testing: Effectiveness and implementation outcomes from a hybrid type I feasibility trial.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Identification of novel CDK19 variants and Drosophila-based in vivo functional evidence supporting pathogenicity in neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

A Pilot Study of the Hereditary Heart Disease Risk Algorithm and User Experience of the Family Health Risk Calculator.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Succinate dehydrogenase (SDHB, SDHC, SDHD) gene variants significantly modify clinical outcomes in paraganglioma-pheochromocytoma but have a limited impact on head and neck paraganglioma.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Not the end of the road: Achieving diagnoses following non-diagnostic exome sequencing: experiences at a clinical site of the Undiagnosed Diseases Network.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

The return of C2N14: a new structural isomer of azidoazide azide.

Chemical communications (Cambridge, England)·2026

Effect of a stabilized liquid ozone-containing formulation delivered through a hyaluronic acid/poly-D,L-lactide scaffold on early osteochondral repair in a rat model.

Injury·2026

Oxophosphonium NHC adducts as precursors to phosphinoyl adducts: a combined electrochemical and computational study.

Dalton transactions (Cambridge, England : 2003)·2026

Photocatalytic elimination of ozone via synergistic oxygen vacancies and chlorine radicals on chlorinated TiO2.

Journal of environmental sciences (China)·2026

Astrocytic NOX2 contributes to ROS-associated mitochondrial dysfunction in cerebral ischemia-reperfusion injury: modulation by electroacupuncture.

Neuroscience·2026

Involvement of LTC4 and NADPH oxidase 5 in extracellular trap formation in Ruditapes philippinarum.

Fish & shellfish immunology·2026

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Correspondence on "Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder" by Cuinat et al

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Correspondence on "Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder" by Cuinat et al

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