ArticleAmerican journal of human genetics2019
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The clinical utility of exome and genome sequencing across clinical indications: a systematic review.Human genetics · 2021Pooled it
- Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.The Journal of clinical investigation · 2026Article
- Hematopoietic stem cell transplantation for DOCK8 deficiency: durable immune reconstitution and long-term survival in 47 patients.Frontiers in immunology · 2026Article
- Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery.Nature genetics · 2025Article
- The Abundance of Harmful Rare Homozygous Variants in Children of Consanguineous Parents.Biology · 2025Article
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.American journal of human genetics · 2024Article
- Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.NPJ genomic medicine · 2024Article
- Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.Neurogenetics · 2024Review
- Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.European journal of human genetics : EJHG · 2023Article
- Article
- A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.Human molecular genetics · 2023Article
- One person can make a difference: identification of people with a rare genetic lung disease.ERJ open research · 2023Article
- A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.Molecular psychiatry · 2022Article
- Case Report: Identification of Two Variants ofFrontiers in genetics · 2022Article
- Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies.Frontiers in genetics · 2022Article
- History of the methodology of disease gene identification.American journal of medical genetics. Part A · 2021Article
- Variants inHGG advances · 2021Article
- Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.Genes · 2021Article
- Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.Journal of nephrology · 2021Article
Corrections and comments
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Authors and funding
117 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.