Martin Man-Chun Chui, Anna Ka-Yee Kwong, Hiu Yu Cherie Leung, Chingyiu Pang, Ines F Scheller, Sheila Suet-Na Wong, Cheuk-Wing Fung, Vicente A Yépez, Julien Gagneur, Christopher Chun-Yu Mak, Brian Hon-Yin Chung
{"title":"An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.","authors":"Martin Man-Chun Chui, Anna Ka-Yee Kwong, Hiu Yu Cherie Leung, Chingyiu Pang, Ines F Scheller, Sheila Suet-Na Wong, Cheuk-Wing Fung, Vicente A Yépez, Julien Gagneur, Christopher Chun-Yu Mak, Brian Hon-Yin Chung","doi":"10.1038/s41525-025-00493-5","DOIUrl":"https://doi.org/10.1038/s41525-025-00493-5","url":null,"abstract":"<p><p>Neurodevelopmental disorders (NDDs) often have unknown genetic causes. Current efforts in identifying disease-related genetic variants using exome or genome sequencing still lead to an excessive number of variants of uncertain significance (VUS). There is an increasing interest in transcriptomics and, more recently, proteomics for variant detection and interpretation. In this study, we integrated quantitative liquid chromatography-mass spectrometry proteomics, RNA sequencing, and exome reanalysis to resolve VUS and detect novel causal variants in 34 patients with undiagnosed NDDs, using the software PROTRIDER and DROP to detect protein outliers and RNA outliers, respectively. We obtained a diagnosis in 11 cases (32%) resulting from the increased amount of information provided by the two additional levels of omics (n = 5) and the updated literature evidence (n = 6). Our experience suggests the potential of this outlier-detection multi-omics workflow for improving diagnostic yield in NDDs and other rare disorders.</p>","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"36"},"PeriodicalIF":4.7,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dimitrios Kioroglou, Rubén Gil-Redondo, Nieves Embade, Maider Bizkarguenaga, Ricardo Conde, Oscar Millet, José M Mato, Urko M Marigorta
{"title":"Multi-omic integration sets the path for early prevention strategies on healthy individuals.","authors":"Dimitrios Kioroglou, Rubén Gil-Redondo, Nieves Embade, Maider Bizkarguenaga, Ricardo Conde, Oscar Millet, José M Mato, Urko M Marigorta","doi":"10.1038/s41525-025-00491-7","DOIUrl":"https://doi.org/10.1038/s41525-025-00491-7","url":null,"abstract":"<p><p>Precision medicine requires biomarkers that stratify patients and improve clinical outcomes. Although longitudinal multi-omic analyses provide insights into pathological states, their utility in stratifying healthy individuals remains underexplored. We performed a cross-sectional integrative study of three omic layers, including genomics, urine metabolomics, and serum metabolomics/lipoproteomics, on a cohort of 162 individuals without pathological manifestations. We studied each omic layer separately and after integration, concluding that multi-omic integration provides optimal stratification capacity. We identified four subgroups and, for a subset of 61 individuals, longitudinal data for two additional time-points allowed us to evaluate the temporal stability of the molecular profiles of each identified subgroup. Additional functional annotation uncovered accumulation of risk factors associated with dyslipoproteinemias in one subgroup, suggesting targeted monitoring could reduce future cardiovascular risks. Overall, our methodology uncovers the potential of multi-omic profiling to serve as a framework for precision medicine aimed at early prevention strategies.</p>","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"35"},"PeriodicalIF":4.7,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tamra Lysaght, Rachel Ankeny, Alex Brown, Rebekah McWhirter, Dianne Nicol, Margaret Otlowski, Bernadette Richards, Ainsley J Newson
{"title":"The Australian LINEAGE Study: advancing and implementing international guidance on genomic data within local governance frameworks.","authors":"Tamra Lysaght, Rachel Ankeny, Alex Brown, Rebekah McWhirter, Dianne Nicol, Margaret Otlowski, Bernadette Richards, Ainsley J Newson","doi":"10.1038/s41525-025-00492-6","DOIUrl":"https://doi.org/10.1038/s41525-025-00492-6","url":null,"abstract":"","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"34"},"PeriodicalIF":4.7,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12043809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Suzanne E de Bruijn, L Ingeborgh van den Born, Ronny Derks, Lonneke Haer-Wigman, Luke O'Gorman, Frans P M Cremers, Ronald van Beek, Alexander Hoischen, Susanne Roosing, Kornelia Neveling
{"title":"Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome.","authors":"Suzanne E de Bruijn, L Ingeborgh van den Born, Ronny Derks, Lonneke Haer-Wigman, Luke O'Gorman, Frans P M Cremers, Ronald van Beek, Alexander Hoischen, Susanne Roosing, Kornelia Neveling","doi":"10.1038/s41525-025-00490-8","DOIUrl":"https://doi.org/10.1038/s41525-025-00490-8","url":null,"abstract":"<p><p>Senior-Løken syndrome is a rare ciliopathy characterized by retinal dystrophy and nephronophthisis. This autosomal recessive inherited disease is caused by pathogenic variants in several genes, including IQCB1. We present a Senior-Løken case that remained genetically unexplained after routine genetic testing, including exome and genome sequencing. To identify the genetic cause for this individual, a combination of innovative long-read technologies was employed. Using optical genome mapping, an intronic 6.2-kb insertion in IQCB1 was revealed. Validation by long-read genome sequencing determined that this insertion consisted of a LINE-1/ERV1-mobile element. The variant was found in trans with a pathogenic IQCB1 2-bp deletion previously identified by exome sequencing. To investigate the consequences of the insertion, targeted long-read RNA-sequencing was performed, revealing a complex splice defect causing the introduction of a premature stop codon. This finding suggests that mobile element insertions represent a yet underestimated variant type that is difficult to detect using short-read sequencing.</p>","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"33"},"PeriodicalIF":4.7,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ryan E Schmidt, Amy E Pohodich, David Birch, Kaylie Jones, Byron L Lam, Emily H Jung, Nieraj Jain, Michalis Georgiou, Omar A Mahroo, Andrew R Webster, Michel Michaelides, Benjamin Bakall, Alessandro Iannaccone, Ajoy Vincent, Deepika C Parameswarappa, Elise Heon, Hendrik P N Scholl, Lucas Janeschitz-Kriegl, Elias I Traboulsi, Wadih Zein, Brian P Brooks, Catherine Cukras, Robert Hufnagel, Tomas S Aleman, Mohamed M Sylla, Stephen H Tsang, Michelle Alabek, Jose Sahel, Michael B Gorin, Maria M van Genderen, Katarina Stingl, Milda Reith, Susanne Kohl, Rebeca Azevedo Souza Amaral, Juliana Maria Ferraz Sallum, Andrea L Vincent, Sarah Hull, Jacque L Duncan, James V M Hanson, Matthias Tedeus, Jordi Maggi, Urs Graf, Samuel Koller, Wolfgang Berger, Christina Gerth-Kahlert, Molly Marra, Lesley A Everett, Paul Yang, Mark E Pennesi
{"title":"Variants in CFAP410 cause a range of retinal and skeletal phenotypes.","authors":"Ryan E Schmidt, Amy E Pohodich, David Birch, Kaylie Jones, Byron L Lam, Emily H Jung, Nieraj Jain, Michalis Georgiou, Omar A Mahroo, Andrew R Webster, Michel Michaelides, Benjamin Bakall, Alessandro Iannaccone, Ajoy Vincent, Deepika C Parameswarappa, Elise Heon, Hendrik P N Scholl, Lucas Janeschitz-Kriegl, Elias I Traboulsi, Wadih Zein, Brian P Brooks, Catherine Cukras, Robert Hufnagel, Tomas S Aleman, Mohamed M Sylla, Stephen H Tsang, Michelle Alabek, Jose Sahel, Michael B Gorin, Maria M van Genderen, Katarina Stingl, Milda Reith, Susanne Kohl, Rebeca Azevedo Souza Amaral, Juliana Maria Ferraz Sallum, Andrea L Vincent, Sarah Hull, Jacque L Duncan, James V M Hanson, Matthias Tedeus, Jordi Maggi, Urs Graf, Samuel Koller, Wolfgang Berger, Christina Gerth-Kahlert, Molly Marra, Lesley A Everett, Paul Yang, Mark E Pennesi","doi":"10.1038/s41525-025-00489-1","DOIUrl":"https://doi.org/10.1038/s41525-025-00489-1","url":null,"abstract":"<p><p>Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from multiple ophthalmic centers across the world. Common clinical features included early-onset reduced visual acuity, photophobia, and delayed light-to-dark adaptation. A cone-rod dystrophy pattern was observed roughly two times more commonly than rod-cone dystrophy. A minority of patients (22.4%) presented with skeletal abnormalities consistent with axial spondylometaphyseal dysplasia (SMDAX). Patients with the most severe ophthalmic and skeletal phenotypes had disease-associated variants within conserved leucine-rich regions of CFAP410, and the structural effects of these variants were modelled using ChimeraX. This report furthers our understanding of CFAP410-associated clinical phenotypes such as retinal dystrophy and skeletal dysplasia.</p>","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"32"},"PeriodicalIF":4.7,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12006490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti-Furga, Muhammad Ansar, Carlo Rivolta
{"title":"A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.","authors":"Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti-Furga, Muhammad Ansar, Carlo Rivolta","doi":"10.1038/s41525-025-00488-2","DOIUrl":"10.1038/s41525-025-00488-2","url":null,"abstract":"<p><p>Inherited retinal diseases (IRDs) are a group of rare Mendelian disorders that often result in progressive vision loss and potentially to complete blindness at the end stage. In this study, we investigated a large cohort of patients with IRDs from Pakistan, the world's fifth most populous country, which is also characterized by distinctive demographic features, such as a high prevalence of consanguinity, endogamy, and a wide variety of ethnic groups. Specifically, we examined a total of 213 unrelated families (722 affected individuals) from three very large geographical regions. We achieved precise molecular diagnosis in 171 pedigrees (80.3%) and detected causative variants in 60 different IRD-associated genes, revealing a mutational landscape that differed substantially from previous data from other European or Asian populations, heavily shaped by endogamy and rare or recurrent founder mutational events. To our knowledge, this work represents the largest genetic study on IRDs within the Pakistani population.</p>","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"31"},"PeriodicalIF":4.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alexandra A Baumann, Lisanne I Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J Widmann, Marcus Franke, Karl Hackmann, Sylke Winkler, Daniela Richter, Isabel Spier, Stefan Aretz, Daniela Aust, Joseph Porrmann, Doreen William, Evelin Schröck, Hanno Glimm, Arne Jahn
{"title":"Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.","authors":"Alexandra A Baumann, Lisanne I Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J Widmann, Marcus Franke, Karl Hackmann, Sylke Winkler, Daniela Richter, Isabel Spier, Stefan Aretz, Daniela Aust, Joseph Porrmann, Doreen William, Evelin Schröck, Hanno Glimm, Arne Jahn","doi":"10.1038/s41525-025-00485-5","DOIUrl":"10.1038/s41525-025-00485-5","url":null,"abstract":"<p><p>Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the tumor suppressor gene APC. Confirmation of diagnosis was not achieved by cancer gene panel and exome sequencing or custom array-CGH in a family with suspected FAP across five generations. Long-read genome sequencing (PacBio), short-read genome sequencing (Illumina), short-read RNA sequencing, and further validations were performed in different tissues of multiple family members. Long-read genome sequencing resolved a 6 kb full-length intronic insertion of a heterozygous LINE-1 element between exons 7 and 8 of APC that could be detected but not fully resolved by short-read genome sequencing. Targeted RNA analysis revealed aberrant splicing resulting in the formation of a pseudo-exon with a premature stop codon. The variant segregated with the phenotype in several family members allowing its evaluation as likely pathogenic. This study supports the utility of long-read DNA sequencing and complementary RNA approaches to tackle unsolved cases of hereditary disease.</p>","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"30"},"PeriodicalIF":4.7,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Teresa Zhao, Daniella H Hock, James Pitt, David R Thorburn, David A Stroud, John Christodoulou
{"title":"Review: Utility of mass spectrometry in rare disease research and diagnosis.","authors":"Teresa Zhao, Daniella H Hock, James Pitt, David R Thorburn, David A Stroud, John Christodoulou","doi":"10.1038/s41525-025-00487-3","DOIUrl":"10.1038/s41525-025-00487-3","url":null,"abstract":"<p><p>Individuals affected by a rare disease often experience a long and arduous diagnostic odyssey. Delivery of genetic answers in a timely manner is critical to affected individuals and their families. Multi-omics, a term which usually encompasses genomics, transcriptomics, proteomics, metabolomics and lipidomics, has gained increasing popularity in rare disease research and diagnosis over the past decade. Mass spectrometry (MS) is a technique allowing the study of proteins, metabolites and lipids and their fragments at scale, enabling researchers to effectively determine the presence and abundance of thousands of molecules in a single test, accurately quantify their specific levels, identify potential therapeutic biomarkers, detect differentially expressed proteins in patients with rare diseases, and monitor disease progression and treatment response. In this review, we focus on mass spectrometry (MS)-based omics and survey the literature describing the utility of different MS-based omics and how they have transformed rare disease research and diagnosis.</p>","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"29"},"PeriodicalIF":4.7,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143753727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sofia Karl, Ekkehard Grünig, Memoona Shaukat, Matthias Held, Christian Apitz, Fabian von Scheidt, Ralf Geiger, Michael Halank, Karen M Olsson, Marius M Hoeper, Jan C Kamp, Gabor Kovacs, Horst Olschewski, Hans-Jürgen Seyfarth, Katrin Milger, Ralf Ewert, Hans Klose, Benjamin Egenlauf, Panagiota Xanthouli, Katrin Hinderhofer, Christina A Eichstaedt
{"title":"Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.","authors":"Sofia Karl, Ekkehard Grünig, Memoona Shaukat, Matthias Held, Christian Apitz, Fabian von Scheidt, Ralf Geiger, Michael Halank, Karen M Olsson, Marius M Hoeper, Jan C Kamp, Gabor Kovacs, Horst Olschewski, Hans-Jürgen Seyfarth, Katrin Milger, Ralf Ewert, Hans Klose, Benjamin Egenlauf, Panagiota Xanthouli, Katrin Hinderhofer, Christina A Eichstaedt","doi":"10.1038/s41525-025-00484-6","DOIUrl":"10.1038/s41525-025-00484-6","url":null,"abstract":"<p><p>In patients with complex congenital heart disease (CHD) pathogenic SMAD6 variants have been described previously. The aim of this study was to analyze if pathogenic SMAD6 variants also occur in patients with CHD associated with pulmonary arterial hypertension (CHD-APAH) or idiopathic PAH. A PAH gene panel with up to 64 genes including SMAD6 was used to sequence 311 patients with idiopathic PAH (IPAH) and 32 with CHD-APAH. In 4 of 32 (12.5%) CHD-APAH and in 2 out of 311 (0.64%) IPAH patients we identified likely pathogenic or rare SMAD6 missense variants. All CHD-APAH patients with a rare SMAD6 variant had complex CHD. One patient had bi-allelic SMAD6 variants, combined pulmonary valve defect and supravalvular aortic stenosis, craniosynostosis and radioulnar synostosis. This is the first description of potentially disease-causing SMAD6 variants in patients with IPAH and complex CHD-APAH. Further studies are needed to assess pathogenesis and prevalence of pathogenic SMAD6 variants in PAH.</p>","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"28"},"PeriodicalIF":4.7,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11937313/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kristine Barlow-Stewart, Eliza Courtney, Mark Cowley, Camron Ebzery, Noemi Fuentes Bolanos, Andrew J Gifford, Hazel Harden, Sarah Josephi-Taylor, Rishi S Kotecha, Marion K Mateos, Mitali Manzur, Chelsea Mayoh, Di Milnes, Jane Nielsen, Matthew O'Connor, Bhavna Padhye, Catherine Pitman, Elizabeth Pitman, Mark Pinese, Catherine Speechly, Ashleigh Sullivan, Toby Trahair, Katherine Tucker, Vanessa Tyrrell, Meera Warby, Andrew Wood, David S Ziegler, Carolyn Johnston
{"title":"Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.","authors":"Kristine Barlow-Stewart, Eliza Courtney, Mark Cowley, Camron Ebzery, Noemi Fuentes Bolanos, Andrew J Gifford, Hazel Harden, Sarah Josephi-Taylor, Rishi S Kotecha, Marion K Mateos, Mitali Manzur, Chelsea Mayoh, Di Milnes, Jane Nielsen, Matthew O'Connor, Bhavna Padhye, Catherine Pitman, Elizabeth Pitman, Mark Pinese, Catherine Speechly, Ashleigh Sullivan, Toby Trahair, Katherine Tucker, Vanessa Tyrrell, Meera Warby, Andrew Wood, David S Ziegler, Carolyn Johnston","doi":"10.1038/s41525-025-00486-4","DOIUrl":"10.1038/s41525-025-00486-4","url":null,"abstract":"","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"10 1","pages":"27"},"PeriodicalIF":4.7,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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