ArticleNPJ genomic medicine2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Article in NPJ genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Secondary findings in hereditary cancer genes after germline genetic testing - systematic review of literature.Human genetics · 2025Pooled it
- [Analysis of familial intrahepatic cholestasis caused by ubiquitin-specific peptidase 53 gene mutation].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026Article
- Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.Diagnostics (Basel, Switzerland) · 2025Article
- Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.European journal of human genetics : EJHG · 2025Article
- Association of Novel Pathogenic Variant (p. Ile366Asn) inInternational journal of molecular sciences · 2025Article
- Case Report: Mild BRIC-like cholestasis despite a grossFrontiers in genetics · 2025Article
- Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.European journal of human genetics : EJHG · 2024Article
- Cyclase-associated protein (CAP) inhibits inverted formin 2 (INF2) to induce dendritic spine maturation.Cellular and molecular life sciences : CMLS · 2024Article
- Developing medical genetics in a low-income country: Unveiling the journey of the Pakistani Society of Medical Genetics and Genomics (PSMG).Genetics in medicine open · 2024Article
- The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with NovelYonsei medical journal · 2023Article
- Insights Into Cystic Fibrosis Gene Mutation Frequency, Clinical Findings, and Complications Among Pakistani Patients.Cureus · 2023Article
- Article
- Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.Lipids in health and disease · 2023Article
- Secondary findings in a large Pakistani cohort tested with whole genome sequencing.Life science alliance · 2023Article
- Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases.Human genomics · 2023Article
- Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.Frontiers in immunology · 2023Article
- Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.Genetics in medicine open · 2023Article
- Biallelic NovelMolecular syndromology · 2023Article
- Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.Nature cardiovascular research · 2023Article
- A retrospective cohort analysis of the Yale pediatric genomics discovery program.American journal of medical genetics. Part A · 2022Article
Corrections and comments
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Authors and funding
18 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We implemented a collaborative diagnostic program in Lahore (Pakistan) aiming to establish the genetic diagnosis, and to asses diagnostic yield and clinical impact in patients with suspected genetic diseases. Local physicians ascertained pediatric patients who had no previous access to genetic testing. More than 1586 genetic tests were performed in 1019 individuals (349 index cases, 670 relatives). Most frequently performed tests were exome/genome sequencing (ES/GS, 284/78 index cases) and specific gene panels (55 index cases). In 61.3% of the patients (
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