A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America.
Familial cancer | 2024-11-01 | PMID 38687439
Esperon Patricia, Neffa Florencia, Pavicic Walter and 10 more
Genes: MUTYH
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
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Publications
Page 9447 of 10600
A Comprehensive Molecular, Biochemical, Histochemical, and Spectroscopic Characterization of Early and Medium Duration Rice Genotypes Investigating Dry Matter Accumulation Efficiencies.
Applied biochemistry and biotechnology | 2024-11-01 | PMID 38687455
Mishra Abinash, Dash Manasi, Barpanda Tanya and 7 more
From ICU Syndromes to ICU Subphenotypes: Consensus Report and Recommendations for Developing Precision Medicine in the ICU.
American journal of respiratory and critical care medicine | 2024-07-15 | PMID 38687499
Gordon Anthony C, Alipanah-Lechner Narges, Bos Lieuwe D and 30 more
[Late-Onset Cerebellar Ataxia with Neuropathy: Uncovering the Role of RFC1 Gene Mutations].
Revista medica de Chile | 2023-04-01 | PMID 38687529
Miranda C Marcelo, Diaz Mario, Hughes G Ricardo and 3 more
Clinical and Genomic Landscape of RAS Mutations in Gynecologic Cancers.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2024-07-15 | PMID 38687597
Son Ji, Zhang Yingao, Lin Heather and 21 more
Genes: KRAS, ARID1A, PIK3CA, PTEN, HRAS, NRAS, TP53
Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes.
Blood | 2024-09-12 | PMID 38687605
Sirenko Maria, Bernard Elsa, Creignou Maria and 57 more
Does Acinetobacter calcoaceticus glucose dehydrogenase produce self-damaging H2O2?
Bioscience reports | 2024-05-29 | PMID 38687614
Lublin Victoria, Kauffmann Brice, Engilberge Sylvain and 10 more
Frontotemporal dementia: from genetics to therapeutic approaches.
Expert opinion on investigational drugs | 2024-06-01 | PMID 38687620
Buccellato Francesca R, D'Anca Marianna, Tartaglia Gianluca Martino and 2 more
Genetic mutations and immune microenvironment: unveiling the connection to AML prognosis.
Hematology (Amsterdam, Netherlands) | 2024-12-01 | PMID 38687637
Hu ZhongLi, Yang YanLi, Li JiaJia and 1 more
Development of a dual channel detection system for pan-genotypic simultaneous quantification of hepatitis B and delta viruses.
Emerging microbes & infections | 2024-12-01 | PMID 38687692
Liu Yongzhen, Maya Stephanie, Carver Sebastian and 7 more
Genome-wide expanding of genetic evolution and potential pathogenicity in Vibrio alginolyticus.
Emerging microbes & infections | 2024-12-01 | PMID 38687697
Huang Zhenzhou, Li Yanjun, Yu Keyi and 7 more
Association of the bitter taste genes TAS2R38 and CA6 and breast cancer risk; a case-control study of Polish women in Poland and Polish immigrants in USA.
PloS one | 2024-01-01 | PMID 38687739
Łukasiewicz-Śmietańska Dorota, Godlewski Dariusz, Nowakowska Elżbieta and 5 more
Genes: CA6, TAS2R38
pH-responsive targeted nanoparticles release ERK-inhibitor in the hypoxic zone and sensitize free gemcitabine in mutant K-Ras-addicted pancreatic cancer cells and mouse model.
PloS one | 2024-01-01 | PMID 38687749
Dutta Debasmita, Ray Priyanka, De Archana and 8 more
Genes: GEM
The association of EGFR amplification with aberrant exon 20 insertion report using the cobas EGFR Mutation Test v2.
PloS one | 2024-01-01 | PMID 38687753
Zhang Man-San, Yeh Yi-Chen, Huang Hsien-Neng and 10 more
Genes: EGFR
Detecting inbreeding depression in structured populations.
Proceedings of the National Academy of Sciences of the United States of America | 2024-05-07 | PMID 38687793
Lavanchy Eléonore, Weir Bruce S, Goudet Jérôme
Synergistic epistasis among cancer drivers can rescue early tumors from the accumulation of deleterious passengers.
PLoS computational biology | 2024-04-01 | PMID 38687804
Alejandre Carla, Calle-Espinosa Jorge, Iranzo Jaime
cancercelllines.org-a novel resource for genomic variants in cancer cell lines.
Database : the journal of biological databases and curation | 2024-04-30 | PMID 38687868
Paloots Rahel, Baudis Michael
Genomic Diversity and Antimicrobial Susceptibility of Invasive Neisseria meningitidis in South Africa, 2016-2021.
The Journal of infectious diseases | 2024-12-16 | PMID 38687883
Mikhari Rito L, Meiring Susan, de Gouveia Linda and 11 more
Nucleotide-binding leucine-rich repeat receptor homologs Pib and PibH8 interact and contribute to immunity in rice.
Plant physiology | 2024-07-31 | PMID 38687884
Wang Zhanchun, Yang Dewei, Zhong Guitao and 3 more
Distinct types of selection and genetic architecture shape molecular variation during the domestication of vegetable crops.
Plant physiology | 2024-07-31 | PMID 38687886
Chen Hung-Wei, Chien Chih-Cheng, Lee Cheng-Ruei
Antitumor activity of extracellular signal-regulated kinases 1/2 inhibitor BVD-523 (ulixertinib) on thyroid cancer cells.
Journal of cancer research and therapeutics | 2024-04-01 | PMID 38687926
Chen Yulu, Xiao Xi, Hu Guanghui and 2 more
Effect of stability of PTEN on hepatocellular carcinoma.
Journal of cancer research and therapeutics | 2024-04-01 | PMID 38687946
Hu Yilin, Mei Hongliang, Luan Tianji and 3 more
Femtosecond Laser Maskless Optical Projection Lithography of Cartilage PCM Inspired 3D Protein Matrix to Chondrocyte Phenotype.
Advanced healthcare materials | 2024-09-01 | PMID 38687974
Li Teng, Liu Jie, Guo Min and 6 more
Association of IGF-1 and IGF-2 genotypes with respiratory muscle strength in individuals with COPD: A cross-sectional study.
Medwave | 2024-04-30 | PMID 38687996
de Carvalho Giovanna, Sepúlveda-Loyola Walter, Oliveira de Lima Luana and 5 more
Pathogenic SNPs Affect Both RNA and DNA G-Quadruplexes' Responses to Ligands.
ACS chemical biology | 2024-05-17 | PMID 38688038
Turcotte Marc-Antoine, Perreault Jean-Pierre
Telomere-lengthening germline variants predispose to a syndromic papillary thyroid cancer subtype.
American journal of human genetics | 2024-06-06 | PMID 38688277
DeBoy Emily A, Nicosia Anna M, Liyanarachchi Sandya and 5 more
Genes: POT1, ACD, BRAF, TERT, TINF2
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
American journal of human genetics | 2024-06-06 | PMID 38688278
Lewis Anna C F, Chisholm Rex L, Connolly John J and 25 more
GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies.
Molecular cell | 2024-05-16 | PMID 38688280
Benbarche Salima, Pineda Jose Mario Bello, Galvis Laura Baquero and 21 more
Genes: SF3B1, GPATCH8, DHX15, SUGP1
Hypothyroidism's effect on stroke limited to specific subtypes: A Mendelian randomization study.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association | 2024-07-01 | PMID 38688395
Deng Xinmin, Chang Wen, Zhu Jingyi and 5 more
Uterine adenosarcoma: Clinical significance of histological classification and SNP array analysis.
Human pathology | 2024-06-01 | PMID 38688412
Ngo Carine, Cotteret Sophie, Deneche Imène and 11 more
Determining evolutionary origin and phylogenetic relationships of mallard-like ducks of Oceania, greater Indonesia, and the Philippines with ddRAD-seq data.
Molecular phylogenetics and evolution | 2024-08-01 | PMID 38688441
Kaminski Marissa, Brown Joshua I, Seibert Sara R and 8 more
Gray matter volume in women with the BRCA mutation with and without ovarian removal: evidence for increased risk of late-life Alzheimer's disease or dementia.
Menopause (New York, N.Y.) | 2024-07-01 | PMID 38688467
Witt Suzanne T, Brown Alana, Gravelsins Laura and 8 more
Preoperative phenotype has no significant impact on the clinical outcomes and long-term survival of mechanically aligned total knee arthroplasty in Asian patients with osteoarthritis.
The bone & joint journal | 2024-05-01 | PMID 38688498
Bae Kinam, Lee Bum-Sik, Kim Jong-Min and 4 more
Suppression of the Escherichia coli rnpA49 conditionally lethal phenotype by different compensatory mutations.
RNA (New York, N.Y.) | 2024-07-16 | PMID 38688559
Babina Arianne M, Kirsebom Leif A, Andersson Dan I
metaGWASmanager: a toolbox for an automated workflow from phenotypes to meta-analysis in GWAS consortia.
Bioinformatics (Oxford, England) | 2024-05-02 | PMID 38688567
Rodriguez-Hernandez Zulema, Gorski Mathias, Tellez-Plaza Maria and 2 more
SharePro: an accurate and efficient genetic colocalization method accounting for multiple causal signals.
Bioinformatics (Oxford, England) | 2024-05-02 | PMID 38688586
Zhang Wenmin, Lu Tianyuan, Sladek Robert and 3 more
MPH: fast REML for large-scale genome partitioning of quantitative genetic variation.
Bioinformatics (Oxford, England) | 2024-05-02 | PMID 38688661
Jiang Jicai
Computable phenotype for real-world, data-driven retrospective identification of relapse in ANCA-associated vasculitis.
RMD open | 2024-04-30 | PMID 38688690
Scott Jennifer, White Arthur, Walsh Cathal and 15 more
Human-mouse comparison of the multistage nature of radiation carcinogenesis in a mathematical model.
International journal of cancer | 2024-09-15 | PMID 38688826
Imaoka Tatsuhiko, Tanaka Satoshi, Tomita Masanori and 6 more
Evolutionary patterns of DNA base composition at polymorphic sites highlight the role of the environment in shaping barley and rice genomes.
The plant genome | 2024-06-01 | PMID 38688857
Gou Xiangjian, Shao Yang, Wang Xiao and 4 more
X-linked genetic associations in sporadic thoracic aortic dissection.
American journal of medical genetics. Part A | 2024-09-01 | PMID 38688863
Musfee Fadi I, Jun Goo, Mitchell Laura E and 9 more
Genes: MAF, SPANXN1, ZNF182
Evolution of triclosan resistance modulates bacterial permissiveness to multidrug resistance plasmids and phages.
Nature communications | 2024-04-30 | PMID 38688912
Yang Qiu E, Ma Xiaodan, Li Minchun and 9 more
Protein mimetic 2D FAST rescues alpha synuclein aggregation mediated early and post disease Parkinson's phenotypes.
Nature communications | 2024-04-30 | PMID 38688913
Stillman Nicholas H, Joseph Johnson A, Ahmed Jemil and 7 more
Mannose-binding lectin gene sequence data in Kelantan population.
Scientific data | 2024-04-30 | PMID 38688916
Zahidin Muhamad Aidil, Mohd Noor Noor Haslina, Johan Muhammad Farid and 3 more
Dopamine signaling enriched striatal gene set predicts striatal dopamine synthesis and physiological activity in vivo.
Nature communications | 2024-04-30 | PMID 38688917
Sportelli Leonardo, Eisenberg Daniel P, Passiatore Roberta and 22 more
Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels.
Nature communications | 2024-04-30 | PMID 38688933
André Mathilde, Brucato Nicolas, Hudjasov Georgi and 17 more
The gene "degrees of kevin bacon" (dokb) regulates a social network behaviour in Drosophila melanogaster.
Nature communications | 2024-04-30 | PMID 38688961
Rooke Rebecca, Krupp Joshua J, Rasool Amara and 4 more
Pan-cancer analysis reveals correlation between RAB3B expression and tumor heterogeneity, immune microenvironment, and prognosis in multiple cancers.
Scientific reports | 2024-04-30 | PMID 38688977
Liu Xu-Sheng, Chen Ya-Lan, Chen Yu-Xuan and 6 more
Leveraging functional genomic annotations and genome coverage to improve polygenic prediction of complex traits within and between ancestries.
Nature genetics | 2024-05-01 | PMID 38689000
Zheng Zhili, Liu Shouye, Sidorenko Julia and 13 more
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.
Nature genetics | 2024-05-01 | PMID 38689001
Keaton Jacob M, Kamali Zoha, Xie Tian and 144 more
Longitudinal study investigating the influence of COMT gene polymorphism on cortical thickness changes in Parkinson's disease over four years.
Scientific reports | 2024-04-30 | PMID 38689006
Tajerian Amin
Oncogenic Kras induces spatiotemporally specific tissue deformation through converting pulsatile into sustained ERK activation.
Nature cell biology | 2024-06-01 | PMID 38689013
Xin Tianchi, Gallini Sara, Wei Haoyang and 9 more
Ecological and evolutionary mechanisms driving within-patient emergence of antimicrobial resistance.
Nature reviews. Microbiology | 2024-10-01 | PMID 38689039
Shepherd Matthew J, Fu Taoran, Harrington Niamh E and 6 more
In Silico Intensive Analysis for the E4 Gene Evolution of Human Adenovirus Species D.
Journal of microbiology (Seoul, Korea) | 2024-05-01 | PMID 38689047
Lee Chanhee, Park Anyeseu, Lee Jeong Yoon
HER2 mutations in advanced cervical neuroendocrine carcinoma: implications for trastuzumab deruxtecan therapy.
Naunyn-Schmiedeberg's archives of pharmacology | 2024-10-01 | PMID 38689071
Chao Wan-Ru, Lee Ming-Yung, Sheu Gwo-Tarng and 3 more
Targeting pyruvate dehydrogenase kinase 1 overcomes EGFR C797S mutation-driven osimertinib resistance in non-small cell lung cancer.
Experimental & molecular medicine | 2024-05-01 | PMID 38689087
Park Wonyoung, Wei Shibo, Xie Chu-Long and 10 more
The Use of Microdosing for In vivo Phenotyping of Cytochrome P450 Enzymes: Where Do We Stand? A Narrative Review.
European journal of drug metabolism and pharmacokinetics | 2024-07-01 | PMID 38689161
van der Heijden Lisa T, Opdam Frans L, Beijnen Jos H and 1 more
Cis-eQTLs in seven duck tissues identify novel candidate genes for growth and carcass traits.
BMC genomics | 2024-04-30 | PMID 38689208
Cai Wentao, Hu Jian, Zhang Yunsheng and 3 more
Artificial selection footprints in indigenous and commercial chicken genomes.
BMC genomics | 2024-04-30 | PMID 38689225
Wu Siwen, Dou Tengfei, Wang Kun and 15 more
Measurable residual disease monitoring by ddPCR in the early posttransplant period complements the traditional MFC method to predict relapse after HSCT in AML/MDS: a multicenter retrospective study.
Journal of translational medicine | 2024-04-30 | PMID 38689269
Chen Weihao, Huang Jingtao, Zhao Yeqian and 16 more
LOXL1-AS1 contributes to metastasis in sonic-hedgehog medulloblastoma by promoting cancer stem-like phenotypes.
Journal of experimental & clinical cancer research : CR | 2024-04-30 | PMID 38689348
Do Anh Duy, Wu Kuo-Sheng, Chu Shing-Shung and 6 more
"Myeloid" Mutations in ALL Are Not Uncommon: Implications for Etiology and Therapies.
Blood cancer discovery | 2024-05-01 | PMID 38689559
Iacobucci Ilaria
Unique Synthetic Strategy for Probing in Situ Lysosomal NO for Screening Neuroinflammatory Phenotypes against SARS-CoV-2 RNA in Phagocytotic Microglia.
Analytical chemistry | 2024-05-14 | PMID 38689560
Munan Subrata, Mondal Abir, Shailja Singh and 2 more
Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature.
Frontiers in endocrinology | 2024-01-01 | PMID 38689733
Orsolini Francesca, Pignata Luisa, Baldinotti Fulvia and 3 more
Genes: LZTR1, AMH
Prevalence, drug resistance, and genotypic diversity of the RDRio subfamily of Mycobacterium tuberculosis in Ecuador: a retrospective analysis for years 2012-2016.
Frontiers in public health | 2024-01-01 | PMID 38689770
Castro-Rodriguez Bernardo, Franco-Sotomayor Greta, Benitez-Medina Jose Manuel and 7 more
Prevalence and genetic diversity of rotavirus among children under 5 years of age in China: a meta-analysis.
Frontiers in immunology | 2024-01-01 | PMID 38690265
Li Yue, Wang Sijie, Liang Fan and 2 more
Additional prognostic value of polymorphisms within the 3'-untranslated region of programmed cell death pathway genes in early-stage breast cancer.
Frontiers in immunology | 2024-01-01 | PMID 38690279
Chen Hanxi, Chen Minyan, Zeng Bangwei and 8 more
Genes: BCL2L11, ATG2B
Case report: Temozolomide induced hypermutation indicates an unfavorable response to immunotherapy in patient with gliomas.
Frontiers in immunology | 2024-01-01 | PMID 38690285
Liu Jiapeng, Hu Shuli, Jiang Haihui and 1 more
The effects of IL-27 and IL-35 gene variation and expression levels on the susceptibility and clinical manifestations of pulmonary tuberculosis.
Frontiers in immunology | 2024-01-01 | PMID 38690286
Gao Lei, Xiong Yan-Jun, Liang Ya-Xue and 6 more
Genes: GC
Enhanced Molecular Response in Myeloproliferative Neoplasms with Complete JAK2V617F Inhibition.
Cancer discovery | 2024-05-01 | PMID 38690601
Celik Hamza, Challen Grant A
Moyamoya Vasculopathy and Moyamoya-Related Systemic Vasculopathy: A Review With Histopathological and Genetic Viewpoints.
Stroke | 2024-06-01 | PMID 38690664
Abumiya Takeo, Fujimura Miki
A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions.
The Journal of clinical investigation | 2024-05-01 | PMID 38690729
Bogomolovas Julius, Chen Ju
Experimental evolution for the recovery of growth loss due to genome reduction.
eLife | 2024-05-01 | PMID 38690805
Hitomi Kenya, Ishii Yoichiro, Ying Bei-Wen
Presence of single nucleotide polymorphisms in transforming growth factor β and insulin-like growth factor 1 in class II malocclusions due to retrognathic mandible.
Folia medica | 2024-04-30 | PMID 38690820
Sharma Prashant, Patil Amol, Sharma Sonakshi and 3 more
Mycobacterium immunogenum acquisition from hospital tap water: a genomic and epidemiologic analysis.
Journal of clinical microbiology | 2024-06-12 | PMID 38690881
Baker Arthur W, Nick Sophie E, Jia Fan and 8 more
IGF1 promotes human myotube differentiation toward a mature metabolic and contractile phenotype.
American journal of physiology. Cell physiology | 2024-05-01 | PMID 38690930
Dreher Simon I, Grubba Paul, von Toerne Christine and 8 more
Whole-exome-based single nucleotide variants and copy number analysis for prenatal diagnosis of compound heterozygosity of SMPD4.
Psychiatric genetics | 2024-06-01 | PMID 38690959
Du Jun, Li Lin, Fu Dinghu
Genes: SMPD4
Genetic causal relationship between multiple immune cell phenotypes and Parkinson's disease: a two-sample bidirectional Mendelian randomization study.
Journal of neurophysiology | 2024-06-01 | PMID 38690999
Chen Hong, Wang Xie, Chang Ze and 2 more
Molecular functions of ANKLE2 and its implications in human disease.
Disease models & mechanisms | 2024-04-01 | PMID 38691001
Fishburn Adam T, Florio Cole J, Lopez Nick J and 2 more
Genes: BANF1
Pharmacokinetics of nirmatrelvir/ritonavir and the drug-drug interaction with calcineurin inhibitor in renal transplant recipients.
European journal of clinical pharmacology | 2024-08-01 | PMID 38691139
Xu Xueyin, Zhang Huanxi, Liu Longshan and 6 more
Update in genetic and epigenetic causes of hypertension.
Cellular and molecular life sciences : CMLS | 2024-04-30 | PMID 38691164
Mani Arya
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Human genetics | 2024-05-01 | PMID 38691166
Colbert Brett M, Lanting Cris, Smeal Molly and 45 more
Genes: TMPRSS3
Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.
Journal of neurology | 2024-07-01 | PMID 38691167
Yoshioka Wakako, Nakamura Harumasa, Oba Mari and 3 more
Integration of clinical phenoms and metabolomics facilitates precision medicine for lung cancer.
Cell biology and toxicology | 2024-05-01 | PMID 38691184
Yan Furong, Liu Chanjuan, Song Dongli and 7 more
High-throughput DNA sequence analysis elucidates novel insight into the genetic basis of adaptation in local sheep.
Tropical animal health and production | 2024-05-01 | PMID 38691202
Asadollahpour Nanaei Hojjat, Amiri Ghanatsaman Zeinab, Farahvashi Mohammad Ali and 3 more
Comprehensive analysis of differences in the physiochemical composition of foremilk and hindmilk of grazing indigenous and crossbred dairy goats; implications for growth, milk production and industry.
Tropical animal health and production | 2024-05-01 | PMID 38691230
Erduran Hakan
Investigating the genetic control of plant development in spring barley under speed breeding conditions.
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik | 2024-04-30 | PMID 38691245
Rossi Nicola, Powell Wayne, Mackay Ian J and 5 more
Differential ischemic stroke risk linked to novel subtypes of type 2 diabetes: insights from a Mendelian randomization analysis.
Endocrine | 2024-06-01 | PMID 38691263
Ruan Zhichao, Zhao Jinxi
A Next-Generation BRAF Inhibitor Overcomes Resistance to BRAF Inhibition in Patients with BRAF-Mutant Cancers Using Pharmacokinetics-Informed Dose Escalation.
Cancer discovery | 2024-09-04 | PMID 38691346
Yaeger Rona, McKean Meredith A, Haq Rizwan and 28 more
Genes: BRAF
Analysis of Cancer-Associated Mutations of POLB Using Machine Learning and Bioinformatics.
IEEE/ACM transactions on computational biology and bioinformatics | 2000-01-01 | PMID 38691429
Alkhanbouli Razan, Al-Aamri Amira, Maalouf Maher and 3 more
Antibiotic dose and nutrient availability differentially drive the evolution of antibiotic resistance and persistence.
The ISME journal | 2024-01-08 | PMID 38691440
Windels Etthel M, Cool Lloyd, Persy Eline and 5 more
Serum Apo Lipoprotein E, Apo Lipoprotein E Gene Polymorphisms, and Parkinson's Disease.
Neurology India | 2024-03-01 | PMID 38691476
Fahmy Ebtesam M, Rabah Amany M, Hashem Saher E and 3 more
Role of PON1 L55M Gene Polymorphism in Parkinson's Disease among North Indian Population.
Neurology India | 2024-03-01 | PMID 38691483
Kumar Brijesh, Saluja Alvee, Juneja Abhishek and 4 more
Pediatric Chordoma: A Tale of Two Genomes.
Molecular cancer research : MCR | 2024-08-02 | PMID 38691518
O'Halloran Katrina, Hakimjavadi Hesamedin, Bootwalla Moiz and 12 more
Protective effect of phospholipids in lipoproteins against diabetic kidney disease: A Mendelian randomization analysis.
PloS one | 2024-01-01 | PMID 38691537
Li Tongyi, Geng Liangliang, Yang Yunjiao and 4 more
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
PloS one | 2024-01-01 | PMID 38691546
Fernandez-Falgueras Anna, Coll Monica, Iglesias Anna and 3 more
Exchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype.
Science advances | 2024-05-03 | PMID 38691604
Ma Yinxing, Schwager Karpukhina Anna, Dib Carla and 4 more
Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.
Science translational medicine | 2024-05-01 | PMID 38691621
Johnson Ruth, Stephens Alexis V, Mester Rachel and 11 more
A long-term prognosis study of human USP8-mutated ACTH-secreting pituitary neuroendocrine tumours.
Clinical endocrinology | 2024-07-01 | PMID 38691659
Miao Hui, Wang Luo, Gong Fengying and 10 more
Molecular, clinical, and therapeutic determinants of outcome in NPM1-mutated AML.
Blood | 2024-08-15 | PMID 38691678
Othman Jad, Potter Nicola, Ivey Adam and 24 more