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 8879 of 10600

An integrative skeletal and paleogenomic analysis of stature variation suggests relatively reduced health for early European farmers.
Proceedings of the National Academy of Sciences of the United States of America | 2022-04-12 | PMID 35389750
Marciniak Stephanie, Bergey Christina M, Silva Ana Maria and 38 more
Distinct proteostasis states drive pharmacologic chaperone susceptibility for cystic fibrosis transmembrane conductance regulator misfolding mutants.
Molecular biology of the cell | 2022-06-01 | PMID 35389766
McDonald Eli Fritz, Sabusap Carleen Mae P, Kim Minsoo and 1 more
TaCol-B5 modifies spike architecture and enhances grain yield in wheat.
Science (New York, N.Y.) | 2022-04-08 | PMID 35389775
Zhang Xiaoyu, Jia Haiyan, Li Tian and 10 more
Genome-wide analysis of somatic noncoding mutation patterns in cancer.
Science (New York, N.Y.) | 2022-04-08 | PMID 35389777
Dietlein Felix, Wang Alex B, Fagre Christian and 7 more
Single-cell eQTL mapping identifies cell type-specific genetic control of autoimmune disease.
Science (New York, N.Y.) | 2022-04-08 | PMID 35389779
Yazar Seyhan, Alquicira-Hernandez Jose, Wing Kristof and 14 more
Mutation-guided therapeutics.
Science (New York, N.Y.) | 2022-04-08 | PMID 35389812
Douglass Jacqueline
Composite CYP3A phenotypes influence tacrolimus dose-adjusted concentration in lung transplant recipients.
Pharmacogenetics and genomics | 2022-07-01 | PMID 35389944
Liu Michelle, Shaver Ciara M, Birdwell Kelly A and 3 more
Effect of CYP2C19 genetic variants on bleeding and major adverse cardiovascular events in a cohort of Arab patients undergoing percutaneous coronary intervention and stent implantation.
Pharmacogenetics and genomics | 2022-07-01 | PMID 35389962
Ali Zainab Omer, Bader Loulia, Mohammed Shaaban and 9 more
OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.
Retinal cases & brief reports | 2023-11-01 | PMID 35389970
Naruse Sho, Kondo Hiroyuki
Dynamic coupling of residues within proteins as a mechanistic foundation of many enigmatic pathogenic missense variants.
PLoS computational biology | 2022-04-01 | PMID 35389981
Ose Nicholas J, Butler Brandon M, Kumar Avishek and 4 more
Comprehensive cancer-oriented biobanking resource of human samples for studies of post-zygotic genetic variation involved in cancer predisposition.
PloS one | 2022-01-01 | PMID 35390022
Filipowicz Natalia, Drężek Kinga, Horbacz Monika and 57 more
Mutations in the HBV PreS/S gene related to hepatocellular carcinoma in Vietnamese chronic HBV-infected patients.
PloS one | 2022-01-01 | PMID 35390033
Thi Cam Huong Nguyen, Trung Nguyen Quang, Luong Bac An and 4 more
Signatures of selection and drivers for novel mutation on transmission-blocking vaccine candidate Pfs25 gene in western Kenya.
PloS one | 2022-01-01 | PMID 35390042
Ochwedo Kevin O, Onyango Shirley A, Omondi Collince J and 11 more
Association of colorectal cancer with genetic and epigenetic variation in PEAR1-A population-based cohort study.
PloS one | 2022-01-01 | PMID 35390065
Yang Wen-Yi, Izzi Benedetta, Bress Adam P and 14 more
Maize dispersal patterns associated with different types of endosperm and migration of indigenous groups in lowland South America.
Annals of botany | 2022-05-12 | PMID 35390119
Costa Flaviane Malaquias, Silva Natalia Carolina de Almeida, Vidal Rafael and 6 more
Revealing the genetic basis of eyelid pigmentation in Hereford cattle.
Journal of animal science | 2022-05-01 | PMID 35390123
Jara Eugenio, Peñagaricano Francisco, Armstrong Eileen and 3 more
TP53 copy number and protein expression inform mutation status across risk categories in acute myeloid leukemia.
Blood | 2022-07-07 | PMID 35390143
Tashakori Mehrnoosh, Kadia Tapan, Loghavi Sanam and 15 more
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
American journal of human genetics | 2022-05-05 | PMID 35390279
Coolen Marion, Altin Nami, Rajamani Karthyayani and 24 more
Epigenetic switch controls social actions.
Neuron | 2022-04-06 | PMID 35390284
Pedini Giorgia, Bagni Claudia
Investigation of Dientamoeba fragilis and Blastocystis in patients from Turkey with ulcerative colitis and irritable bowel syndrome: Any relation with genotypes?
Acta tropica | 2022-07-01 | PMID 35390312
Unalan-Altintop Tugce, Vahabov Cavansir, Ergunay Koray and 4 more
RAMP2-AS1 inhibits CXCL11 expression to suppress malignant phenotype of breast cancer by recruiting DNMT1 and DNMT3B.
Experimental cell research | 2022-07-15 | PMID 35390315
Li Li, Gan Ya-Ping, Peng Hui
Genetic variation and intestinal cholesterol absorption in humans: A systematic review and a gene network analysis.
Progress in lipid research | 2022-04-01 | PMID 35390434
Mokhtar Fatma B A, Plat Jogchum, Mensink Ronald P
Variances and covariances of linear summary statistics of segregating sites.
Theoretical population biology | 2022-06-01 | PMID 35390435
Fu Yun-Xin
Variants in proinflammatory genes IL1RL1, IL1B and IRF4 are associated with overweight in a pediatric Brazilian population.
Gene | 2022-06-20 | PMID 35390444
Melo Ana Paula Castro, Teixeira Helena Mariana Pitangueira, Coelho Raisa Santos and 12 more
Many hands make light work: CNV of GSTM1 effect on the oral carcinoma risk.
Cancer epidemiology | 2022-06-01 | PMID 35390586
Firigato Isabela, López Rossana V M, Curioni Otávio A and 3 more
Investigation into the effect of mixtures comprising related people on non-donor likelihood ratios, and potential practises to mitigate providing misleading opinions.
Forensic science international. Genetics | 2022-07-01 | PMID 35390645
Kalafut Tim, Bright Jo-Anne, Taylor Duncan and 1 more
Integrating voice and phenotype in a revision of the brush cuckoo Cacomantis variolosus (Aves: Cuculidae) complex.
Zootaxa | 2022-01-12 | PMID 35391259
Wu Meng Yue, Schodde Richard, Rheindt Frank E
A new species of Arachnopsita (Orthoptera: Grylloidea: Phalangopsidae) from caves in Guatemala.
Zootaxa | 2022-02-04 | PMID 35391444
Junta Vitor Gabriel Pereira, Castro-Souza Rodrigo Antnio, Ferreira Rodrigo Lopes
Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.
Human mutation | 2022-08-01 | PMID 35391505
Jacobsen Julius O B, Kelly Catherine, Cipriani Valentina and 6 more
A novel frameshift mutation in Allan-Herndon-Dudley syndrome.
International journal of legal medicine | 2022-07-01 | PMID 35391604
Liu Zihao, Zhao Shuquan, Chen Jianyi and 3 more
NRASQ61R mutation in human endothelial cells causes vascular malformations.
Angiogenesis | 2022-08-01 | PMID 35391614
Boscolo Elisa, Pastura Patricia, Schrenk Sandra and 5 more
Phosphate fertilization affects rhizosphere microbiome of maize and sorghum genotypes.
Brazilian journal of microbiology : [publication of the Brazilian Society for Microbiology] | 2022-09-01 | PMID 35391636
Campolino Mariana Lourenço, de Paula Lana Ubiraci Gomes, Gomes Eliane Aparecida and 2 more
Rate of breast biopsy referrals in female BRCA mutation carriers aged 50 years or more: a retrospective comparative study and matched analysis.
Breast cancer research and treatment | 2022-06-01 | PMID 35391652
Pomerantz Adi, Tsoref Daliah, Grubstein Ahuva and 10 more
Molecular Evaluation of Chlamydia trachomatis Infection and Its Association with Tumor Necrosis Factor-α Polymorphism in Recurrent Spontaneous Abortions.
Ethiopian journal of health sciences | 2021-11-01 | PMID 35392343
Kolor Fatemeh Darvishi, Yousefi Jalil Vand, Ranjbar Reza
Establishment of Rapid Detection Methods for rs76971248 Related to Leukemia.
Disease markers | 2022-01-01 | PMID 35392495
Sun Li-Yan, Li Zhen, Wang Song-Xing and 5 more
Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient.
Endocrine, metabolic & immune disorders drug targets | 2022-01-01 | PMID 35392793
Danandeh Khashayar, Jabbari Parnian, Rayzan Elham and 7 more
Rates of evolutionary change of resident Escherichia coli O157:H7 differ within the same ecological niche.
BMC genomics | 2022-04-07 | PMID 35392797
Weinroth Margaret D, Clawson Michael L, Arthur Terrance M and 4 more
Long noncoding RNA MALAT1 polymorphism predicts MACCEs in patients with myocardial infarction.
BMC cardiovascular disorders | 2022-04-07 | PMID 35392816
Zhang Tong, Luo Jun-Yi, Liu Fen and 4 more
Longitudinal profiling of circulating tumour DNA for tracking tumour dynamics in pancreatic cancer.
BMC cancer | 2022-04-07 | PMID 35392854
Sivapalan Lavanya, Thorn Graeme J, Gadaleta Emanuela and 3 more
Exploring genetic association of insomnia with allergic disease and asthma: a bidirectional Mendelian randomization study.
Respiratory research | 2022-04-07 | PMID 35392909
Li Rong, Chen Yiting, Zhao Anda and 7 more
Single-nucleotide polymorphisms in genes related to oxidative stress and ion channels in chickens are associated with semen quality and hormonal responses to thermal stress.
Journal of thermal biology | 2022-04-01 | PMID 35393054
Zhuang Zi-Xuan, Chen Shuen-Ei, Chen Chih-Feng and 2 more
Correlation of EGFR mutation subtypes and survival in surgically treated brain metastasis from non-small-cell lung cancer.
Asian journal of surgery | 2023-01-01 | PMID 35393224
Perng Pang-Shuo, Hsu Hui-Ping, Lee Po-Hsuan and 3 more
Hyper-IgE syndrome caused by DOCK8 mutation with a tumour-like lesion of the lip: a case report.
International journal of oral and maxillofacial surgery | 2022-12-01 | PMID 35393256
Zhu W-X, Liu Y-Y, Hua H and 1 more
Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review.
BMJ case reports | 2022-04-07 | PMID 35393273
Panichsillaphakit Ekkarit, Kwanbunbumpen Tanisa, Chomtho Sirinuch and 1 more
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
Journal of medical genetics | 2022-11-01 | PMID 35393337
Mroczek Magdalena, Longman Cheryl, Farrugia Maria Elena and 17 more
Effects of Vitamin D and Body Mass Index on Disease Risk and Relapse Hazard in Multiple Sclerosis: A Mendelian Randomization Study.
Neurology(R) neuroimmunology & neuroinflammation | 2022-05-01 | PMID 35393342
Vandebergh Marijne, Dubois Bénédicte, Goris An
SH3-domain mutations selectively disrupt Csk homodimerization or PTPN22 binding.
Scientific reports | 2022-04-07 | PMID 35393453
Brian Ben F, Sjaastad Frances V, Freedman Tanya S
Affective response to physical activity as a deep phenotype in a non-randomized pilot study.
Scientific reports | 2022-04-07 | PMID 35393456
Lee Harold H, McGeary John E, Dunsiger Shira and 6 more
Altered hypoxia inducible factor regulation in hereditary haemorrhagic telangiectasia.
Scientific reports | 2022-04-07 | PMID 35393474
Wrobeln Anna, Leu Tristan, Jablonska Jadwiga and 4 more
Rare species disproportionally contribute to functional diversity in managed forests.
Scientific reports | 2022-04-07 | PMID 35393488
Basile Marco
The SNPs of mitochondrial DNA displacement loop region and mitochondrial DNA copy number associated with risk of polymyositis and dermatomyositis.
Scientific reports | 2022-04-07 | PMID 35393495
Zhao Yufei, Peng Chenxing, Lai Ruixue and 3 more
Genetic diversity for agromorphological traits, phytochemical profile, and antioxidant activity in Moroccan sorghum ecotypes.
Scientific reports | 2022-04-07 | PMID 35393498
Bouargalne Youssef, Ben Mrid Reda, Bouchmaa Najat and 6 more
Identification of genetic effects underlying type 2 diabetes in South Asian and European populations.
Communications biology | 2022-04-07 | PMID 35393509
Loh Marie, Zhang Weihua, Ng Hong Kiat and 44 more
Genes: CHMP4B, PDHB
Mutational scanning of spike RBD protein for enhanced ACE2 affinity emerging Southeast Asia in the late transmission phase.
Scientific reports | 2022-04-07 | PMID 35393512
Kodchakorn Kanchanok, Chokepaichitkool Tawan, Kongtawelert Prachya
Trade-offs in the genetic control of functional and nutritional quality traits in UK winter wheat.
Heredity | 2022-06-01 | PMID 35393550
Fradgley Nick S, Gardner Keith, Kerton Matt and 2 more
Dissecting the clinical heterogeneity of early-onset Alzheimer's disease.
Molecular psychiatry | 2022-06-01 | PMID 35393555
Sirkis Daniel W, Bonham Luke W, Johnson Taylor P and 2 more
Genes: MAPT, PRNP
Genetic variants underlying differences in facial morphology in East Asian and European populations.
Nature genetics | 2022-04-01 | PMID 35393595
Zhang Manfei, Wu Sijie, Du Siyuan and 16 more
Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores.
Nature genetics | 2022-04-01 | PMID 35393596
Weissbrod Omer, Kanai Masahiro, Shi Huwenbo and 7 more
Recurrent Alterations in the MAPK pathway in Sporadic Pyogenic Granuloma of Childhood.
Acta dermato-venereologica | 2022-05-19 | PMID 35393626
Strobel Katharina, Maurus Katja, Hamm Henning and 4 more
Genetic characterization of P[8] rotavirus strains circulated in Iran between 2009 and 2017.
Journal of medical virology | 2022-08-01 | PMID 35393690
Latifi Tayebeh, Eybpoosh Sana, Afchangi Atefeh and 2 more
Genetic analyses reveal regional structure and demographic expansion of the predominant tea pest Empoasca onukii (Hemiptera: Cicadellidae) in China.
Pest management science | 2022-07-01 | PMID 35393736
Li Jinyu, Shi Longqing, Vasseur Liette and 4 more
The novel HLA-A*30:172 allele identified in a donor from the Colombian bone marrow donor registry.
HLA | 2022-08-01 | PMID 35393737
Hernández Mejía David Guillermo, Camacho Ramírez Nathalie, Mosquera Martínez Melissa and 2 more
Characterization of the novel HLA-DQA1*01:81 allele by sequencing-based typing.
HLA | 2022-08-01 | PMID 35393739
Le Méné Melchior, Villemonteix Juliette, Jorge-Cordeiro Débora and 1 more
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics | 2022-03-01 | PMID 35393766
Thomas Davis C, Moorthy Janani Dakshina, Prabhakar Vaishnavi and 2 more
Characterization of the novel HLA-DRB1*11:04:21 allele by sequencing-based typing.
HLA | 2022-08-01 | PMID 35393781
Giustiniani Paola, Troiano Maria, Bianculli Antonio Giuseppe and 2 more
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Cancer medicine | 2022-07-01 | PMID 35393784
Liu Binliang, Yi Zongbi, Guan Yanfang and 10 more
Gastrointestinal stromal tumors with Kit gene mutation in 4 guinea pigs (Cavia porcellus).
Veterinary pathology | 2022-09-01 | PMID 35393902
Ueda Kengo, Takanosu Masamine, Kagawa Yumiko and 4 more
Blockade of the CXCR3/CXCL10 axis ameliorates inflammation caused by immunoproteasome dysfunction.
JCI insight | 2022-04-08 | PMID 35393946
Sasaki Yuki, Arimochi Hideki, Otsuka Kunihiro and 3 more
Sources of dietary gluten in the first 2 years of life and associations with celiac disease autoimmunity and celiac disease in Swedish genetically predisposed children: The Environmental Determinants of Diabetes in the Young (TEDDY) study.
The American journal of clinical nutrition | 2022-08-04 | PMID 35394004
Hård Af Segerstad Elin M, Liu Xiang, Uusitalo Ulla and 2 more
Genes: CDA
Phenome-wide screening of the putative causal determinants of depression using genetic data.
Human molecular genetics | 2022-08-25 | PMID 35394011
Aman Asma M, García-Marín Luis M, Thorp Jackson G and 4 more
Osteoblast lineage Sod2 deficiency leads to an osteoporosis-like phenotype in mice.
Disease models & mechanisms | 2022-05-01 | PMID 35394023
Schoppa Astrid M, Chen Xiangxu, Ramge Jan-Moritz and 7 more
A homing suppression gene drive with multiplexed gRNAs maintains high drive conversion efficiency and avoids functional resistance alleles.
G3 (Bethesda, Md.) | 2022-05-30 | PMID 35394026
Yang Emily, Metzloff Matthew, Langmüller Anna M and 4 more
Temporal and spatially controlled APP transgene expression using Cre-dependent alleles.
Disease models & mechanisms | 2022-05-01 | PMID 35394029
Koller Emily J, Comstock Melissa, Bean Jonathan C and 3 more
Long-term non-invasive drug treatments in adult zebrafish that lead to melanoma drug resistance.
Disease models & mechanisms | 2022-05-01 | PMID 35394030
Lu Yuting, Patton E Elizabeth
Both entry to and exit from diapause arrest in Caenorhabditis elegans are regulated by a steroid hormone pathway.
Development (Cambridge, England) | 2022-05-01 | PMID 35394033
Zhang Mark G, Sternberg Paul W
Robust Bayesian variable selection for gene-environment interactions.
Biometrics | 2023-06-01 | PMID 35394058
Ren Jie, Zhou Fei, Li Xiaoxi and 3 more
Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.
Prenatal diagnosis | 2022-06-01 | PMID 35394072
Zemet Roni, Van den Veyver Ignatia B, Stankiewicz Paweł
Case report: Neonatal diabetes mellitus with congenital hypothyroidism as a result of biallelic heterozygous mutations in GLIS3 gene.
Pediatric diabetes | 2022-09-01 | PMID 35394098
Perdas Ewelina, Gadzalska Karolina, Hrytsiuk Ihor and 3 more
The optimal therapy strategy for epidermal growth factor receptor-mutated non-small cell lung cancer patients with brain metastasis: A real-world study from Taiwan.
Thoracic cancer | 2022-05-01 | PMID 35394114
Cheng Wen-Chien, Shen Yi-Cheng, Chien Chun-Ru and 5 more
Intratumoral genetic and immune microenvironmental heterogeneity in T4N0M0 (diameter ≥ 7 cm) non-small cell lung cancers.
Thoracic cancer | 2022-05-01 | PMID 35394115
Zhang Jia Tao, Dong Song, Ji Li Yan and 17 more
The prevalence and real-world therapeutic analysis of Chinese patients with KRAS-Mutant Non-Small Cell lung cancer.
Cancer medicine | 2022-10-01 | PMID 35394121
Chen Hanxiao, Huang Dingzhi, Lin Gen and 12 more
PAM variants were associated with type 2 diabetes mellitus risk in the Chinese population.
Functional & integrative genomics | 2022-08-01 | PMID 35394266
Sheng Binwu, Wei Huiyi, Li Zhiying and 2 more
Change in the Oligomeric State of α-Synuclein Variants in Living Cells.
ACS chemical neuroscience | 2022-04-20 | PMID 35394271
Fan Hsiu-Fang, Chen Wen-Ling, Chen Yan-Zhow and 2 more
Characterization of Genetic Diversity and Variation in Pathogenicity of the Rice False Smut Pathogen Ustilaginoidea virens from a Single Source.
Plant disease | 2022-10-01 | PMID 35394330
Tan Ze, Bai Zhenxu, Qin Yubao and 8 more
Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection.
eLife | 2022-04-08 | PMID 35394425
Kilinc Murat, Arora Vineet, Creson Thomas K and 14 more
FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.
Investigative ophthalmology & visual science | 2022-04-01 | PMID 35394490
Lu Jinglin, Huang Li, Sun Limei and 5 more
Genetic diversity and relationships among Nopalea sp. and Opuntia spp. accessions revealed by RAPD, ISSR and ITS molecular markers.
Molecular biology reports | 2022-07-01 | PMID 35394600
Bezerra Janieire Dorlamis Cordeiro, de Andrade Alberício Pereira, do Rêgo Mailson Monteiro and 8 more
Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394 694 UK Biobank exomes.
Genes, chromosomes & cancer | 2022-09-01 | PMID 35394676
Jiang Xiao, O'Neill Amanda, Smith Katherine R and 4 more
[Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova | 2022-01-01 | PMID 35394730
Rudenskaya G E, Shestopalova E A, Kadnikova V A and 1 more
Assessment of Multiple Annealing and Looping-Based Amplification Cycle-Based Whole-Genome Amplification for Short Tandem Repeat Genotyping of Low Copy Number-DNA.
Genetic testing and molecular biomarkers | 2022-04-01 | PMID 35394799
Liao Fei, Liu Quan, Xiao Chao and 2 more
Human enteric viruses autonomously shape inflammatory bowel disease phenotype through divergent innate immunomodulation.
Science immunology | 2022-04-08 | PMID 35394816
Adiliaghdam Fatemeh, Amatullah Hajera, Digumarthi Sreehaas and 12 more
Cryo-EM structures of the human surfactant lipid transporter ABCA3.
Science advances | 2022-04-08 | PMID 35394827
Xie Tian, Zhang Zike, Yue Jian and 2 more
Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing.
Science advances | 2022-04-08 | PMID 35394831
Maslov Alexander Y, Makhortov Sergey, Sun Shixiang and 4 more
Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.
Science advances | 2022-04-08 | PMID 35394837
Giffen Kimberlee P, Li Yi, Liu Huizhan and 10 more
Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues.
Proceedings of the National Academy of Sciences of the United States of America | 2022-04-12 | PMID 35394879
Arbeithuber Barbara, Cremona Marzia A, Hester James and 6 more
Effective population size for culturally evolving traits.
PLoS computational biology | 2022-04-01 | PMID 35395004
Deffner Dominik, Kandler Anne, Fogarty Laurel
A randomized controlled trial comparing self-referred message to family-referred message promoting men's adherence to evidence-based guidelines on BRCA1/2 germline genetic testing: A registered study protocol.
PloS one | 2022-01-01 | PMID 35395021
Petrocchi Serena, Ongaro Giulia, Calvello Mariarosaria and 3 more
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data.
Human mutation | 2022-07-01 | PMID 35395114
Halman Andreas, Dolzhenko Egor, Oshlack Alicia
Identification of the novel HLA-DPB1*1289:01 allele by next-generation sequencing.
HLA | 2022-08-01 | PMID 35395146
Wang Xiaojing, Wang Jiying, Zhang Yan and 1 more
Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm.
Annual review of genomics and human genetics | 2022-08-31 | PMID 35395171
Backwell Lisa, Marsh Joseph A