ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
45 citing papers in PubMed.
- Impacts of N-glycanase1 (NGLY1) Down Regulation on the Function of Mitochondria.Journal of cellular biochemistry · 2026Article
- From DNA to Big Data: NGS Technologies and Their Applications.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.Biomedicines · 2024Article
- Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.Heliyon · 2024Article
- Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.Nature reviews. Genetics · 2024Review
- A Natural Compound Containing a Disaccharide Structure of Glucose and Rhamnose Identified as Potential N-Glycanase 1 (NGLY1) Inhibitors.Molecules (Basel, Switzerland) · 2023Article
- Exome/Genome Sequencing in Undiagnosed Syndromes.Annual review of medicine · 2023Review
- NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.Cells · 2022Review
- Deficiency of N-glycanase 1 perturbs neurogenesis and cerebral development modeled by human organoids.Cell death & disease · 2022Article
- Why rare disease needs precision medicine-and precision medicine needs rare disease.Cell reports. Medicine · 2022Article
- Patients as Partners in Rare Disease Diagnosis and Research.The Yale journal of biology and medicine · 2021Review
- Sustainable generation of patient-led resources in a learning health system.Learning health systems · 2021Article
- Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.Orphanet journal of rare diseases · 2021Article
- Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.Frontiers in genetics · 2021Review
- Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects.Frontiers in genetics · 2021Review
- Embracing human genetics: a primer for developmental biologists.Development (Cambridge, England) · 2020Review
- "Hunting Down My Son's Killer": New Roles of Patients in Treatment Discovery and Ethical Uncertainty.Journal of bioethical inquiry · 2020Article
- Genomics of rare genetic diseases-experiences from India.Human genomics · 2019Review
- Mendelian Gene Discovery: Fast and Furious with No End in Sight.American journal of human genetics · 2019Article
- Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry.Orphanet journal of rare diseases · 2019Article
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2 authors.
Funding
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Abstract
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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.