Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40585076 (PubMed )
Supplement: media-3.xlsx › Table_S6
Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions.
Garcia CAB et al.
Genes, 2025
40282380 (PubMed )
Supplement: genes-16-00421-s001.zip › Table_S3_Validated_Mosaic_Variants_in_all_patients.xlsx › Sheet1
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3
Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.
Mirshahi UL et al.
Kidney International Reports, 2022
36090499 (PubMed )
Supplement: mmc1.docx
A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa.
Ceccarini MR et al.
Eating and Weight Disorders : Ewd, 2022
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
Orlov IE et al.
European Journal of Medical Genetics, 2022
Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals.
Ginete C et al.
Genes, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Ritter AL et al.
American Journal of Medical Genetics. Part A, 2018
Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.
Vasli N et al.
Psychiatric Genetics, 2016
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J et al.
The New England Journal of Medicine, 2012
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