Biomedical publications with connected research

[Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-06-10 | PMID 37212002

Tang Jiao, Ling Junhe, Zhang Chuan and 6 more

[Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-06-10 | PMID 37212003

Chen Yiru, Nong Tianying, Shi Weizhe and 5 more

[Identification of a NONO gene variant in a child with congenital heart disease and global developmental delay].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-06-10 | PMID 37212004

Lei Yuqing, Peng Xiaoyan, Wang Xinrui and 1 more

[Clinical and genetic analysis of a child with Mental retardation autosomal dominant 51].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-06-10 | PMID 37212005

Tang Yulin, Li Xiaojing, Wu Wenlin and 3 more

[Analysis of NSD1 gene variant in a child with autism spectrum disorder in conjunct with congenital heart disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-06-10 | PMID 37212006

Yin Heng, Qiu Zhongqing, Li Tongtong and 5 more

[Clinical and genetic analysis of a patient with Craniofrontonasal syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-06-10 | PMID 37212007

Jin Juan, Lei Yu, Pu Qian and 1 more

[Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-06-10 | PMID 37212008

He Tiantian, Jiang Jieni, Xiong Yueyue and 2 more

[Clinical phenotype and genetic analysis of a fetus with Glutaracidemia type II C].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-06-10 | PMID 37212009

Zhai Shanshan, Liu Ling, Yuan Limin and 1 more

[Genetic analysis of a Chinese pedigree with Lesch-Nyhan syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-06-10 | PMID 37212010

Wang Dujuan, Zhao Jingjing, Teng Juan and 3 more

[Serological characteristics of ABO blood group and molecular genetic analysis of a Chinese pedigree with cisAB09 subtype].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2023-06-10 | PMID 37212015

Wang Yuanyuan, Yang Fangnian, Shen Yuqing and 3 more

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.

Journal of neuromuscular diseases | 2023-01-01 | PMID 37212067

Pugliese Alessia, Holland Stephen H, Rodolico Carmelo and 2 more

SORL1 rs1699102 Moderates the Effect of Sex on Language Network.

Journal of Alzheimer's disease : JAD | 2023-01-01 | PMID 37212098

Fan Jialing, Zhu Zhibao, Chen Yaojing and 5 more

High-Quality Sleep Mitigates ABCA7-Related Generalization Deficits in Healthy Older African Americans.

Journal of Alzheimer's disease : JAD | 2023-01-01 | PMID 37212111

Sinha Neha, Fausto Bernadette A, Mander Bryce and 1 more

Evolutionary Selection of APOEɛ4 Encourages Increased Focus on Immunity in Alzheimer's Disease.

Journal of Alzheimer's disease : JAD | 2023-01-01 | PMID 37212123

Wheeler Christopher J

Genomic recovery lags behind demographic recovery in bottlenecked populations of the Channel Island fox, Urocyon littoralis.

Molecular ecology | 2023-08-01 | PMID 37212171

Adams Nicole E, Edmands Suzanne

What are quantitative traits and how can they be used in autism research?

Autism research : official journal of the International Society for Autism Research | 2023-07-01 | PMID 37212172

Lyall Kristen

Systematic evaluation of the association between a missense variant in XRCC3 gene splicing site and the pathogenesis of ovarian cancer.

Bioscience reports | 2023-06-28 | PMID 37212185

Liang Qiulian, Huang Gongchen, Zhong Ping and 3 more

A single site mutation can induce functional promiscuity in homoserine kinase.

Organic & biomolecular chemistry | 2023-06-07 | PMID 37212194

Tripathi Ankita, Dubey Kshatresh Dutta

Optimization of polygenic risk scores in BRCA1/2 pathogenic variant heterozygotes in epithelial ovarian cancer.

Genetics in medicine : official journal of the American College of Medical Genetics | 2023-09-01 | PMID 37212253

Flaum Nicola, Bowes John, Smith Miriam J and 4 more

Detection of H275Y oseltamivir resistance gene mutation among Influenza A(H1N1)pdm09 patients by allelic discrimination real-time RT-PCR.

Journal of medical virology | 2023-05-01 | PMID 37212286

Krishna Smriti, Jayaram Anup, Shetty Ujwal and 3 more

Genetic correlation, causal relationship, and shared loci between vitamin D and COVID-19: A genome-wide cross-trait analysis.

Journal of medical virology | 2023-05-01 | PMID 37212302

Qiu Shizheng, Zheng Keyang, Hu Yang and 1 more

Simultaneous modeling of multivariate heterogeneous responses and heteroskedasticity via a two-stage composite likelihood.

Biometrical journal. Biometrische Zeitschrift | 2023-08-01 | PMID 37212427

Ting Bryan W, Wright Fred A, Zhou Yi-Hui

Investigation of genetic sex-specific molecular profile in well-differentiated thyroid cancer: Is there a difference between females and males?

Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery | 2023-09-01 | PMID 37212457

Morand Grégoire B, Tessler Idit, Krasner Josh and 5 more

Genes: TERT, BRAF

A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog.

Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc | 2023-07-01 | PMID 37212506

Chimenes Natielly D, Caramalac Silvana M, Caramalac Simone M and 6 more

Plasma cell myeloma with RAS/BRAF mutations is frequently associated with a complex karyotype, advanced stage disease, and poorer prognosis.

Cancer medicine | 2023-07-01 | PMID 37212518

Li Nianyi, Lin Pei, Zuo Zhuang and 12 more

Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history.

American journal of medical genetics. Part C, Seminars in medical genetics | 2023-06-01 | PMID 37212526

Yang Xiao-Ru, Kassam Faazil, Innes A Micheil

Rhizosphere microbial community composition shifts diurnally and in response to natural variation in host clock phenotype.

mSystems | 2023-06-29 | PMID 37212579

Hubbard Charley J, Harrison Joshua G, McMinn Robby and 4 more

Reimagining Hair Science: A New Approach to Classify Curly Hair Phenotypes via New Quantitative Geometric and Structural Mechanical Parameters.

Accounts of chemical research | 2023-06-06 | PMID 37212612

Gaines Michelle K, Page Imani Y, Miller Nolan A and 7 more

Gut Microbiota Taxon-Dependent Transformation of Microglial M1/M2 Phenotypes Underlying Mechanisms of Spatial Learning and Memory Impairment after Chronic Methamphetamine Exposure.

Microbiology spectrum | 2023-06-15 | PMID 37212669

Wu Yulong, Dong Zhouyan, Jiang Xinze and 6 more

Genetic variation in the glucosyltransferase-B gene of Streptococcus mutans and its relationship with caries experience in children from Córdoba, Argentina, and with strains from other countries.

International journal of paediatric dentistry | 2023-11-01 | PMID 37212709

Carletto-Körber Fabiana Pia Marina, Acosta-Jofré María Soledad, Vera Noelia Soledad and 5 more

MDR3 rs2109505 and rs1202283 polymorphisms are associated with susceptibility to intrahepatic cholestasis of pregnancy: A meta-analysis.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University | 2023-12-01 | PMID 37212775

Zhuo Haiyan, Fan Jinhai, Yao Lvfeng and 2 more

HERTHENA-Lung01: a phase II study of patritumab deruxtecan (HER3-DXd) in previously treated metastatic EGFR-mutated NSCLC.

Future oncology (London, England) | 2023-06-01 | PMID 37212796

Yu Helena A, Yang James Chih-Hsin, Hayashi Hidetoshi and 10 more

Application of single-cell RNA sequencing analysis of novel breast cancer phenotypes based on the activation of ferroptosis-related genes.

Functional & integrative genomics | 2023-05-22 | PMID 37212877

Liu Shuochuan, Zhao Yajie, Zhang Jiao and 1 more

Genetic variability of oxidative stress and DNA repair genes associated with pre-treatment cancer-related fatigue in women with breast cancer.

Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer | 2023-05-22 | PMID 37212918

Davis Tara, Koleck Theresa, Conway Alex and 2 more

SNP analysis of challenging bone DNA samples using the HID-Ion AmpliSeq™ Identity Panel: facts and artefacts.

International journal of legal medicine | 2023-07-01 | PMID 37212920

Fattorini Paolo, Previderè Carlo, Livieri Tommaso and 2 more

New Developments in Treating RAS-Mutated Metastatic Colorectal Cancer.

Current treatment options in oncology | 2023-08-01 | PMID 37212934

Janssens Katleen, Lambrechts Chinouk, Geerinckx Barbara and 6 more

ART outcomes in lean compared to obese phenotypes of polycystic ovarian syndrome.

Journal of assisted reproduction and genetics | 2023-06-01 | PMID 37212942

Fouks Yuval, Neuhausser Werner, Ryley David and 3 more

Novel Drug Targets for Atrial Fibrillation Identified Through Mendelian Randomization Analysis of the Blood Proteome.

Cardiovascular drugs and therapy | 2024-12-01 | PMID 37212950

Ning Zuodong, Huang Yunying, Lu Haocheng and 5 more

Genes: TNFSF12, ALAD, ANXA4, B3GNT8, CFL2, CHMP3, CTSZ, EFEMP1

The PD-1 single-nucleotide polymorphism rs11568821 and rs2227981 as a novel prognosis model in a triple-negative breast cancer patient.

Molecular biology reports | 2023-07-01 | PMID 37212960

Boguszewska-Byczkiewicz Katarzyna, Wow Thomas, Szymańska Bożena and 2 more

IDH wild-type lower-grade gliomas with glioblastoma molecular features: a systematic review and meta-analysis.

Brain tumor pathology | 2023-07-01 | PMID 37212969

Nakasu Satoshi, Deguchi Shoichi, Nakasu Yoko

PM2.5 concentration prediction using weighted CEEMDAN and improved LSTM neural network.

Environmental science and pollution research international | 2023-06-01 | PMID 37213020

Zhang Li, Liu Jinlan, Feng Yuhan and 2 more

Tn5 Transposon-based Mutagenesis for Engineering Phage-resistant Strains of Escherichia coli BL21 (DE3).

Journal of microbiology (Seoul, Korea) | 2023-05-01 | PMID 37213024

Wang Yinfeng, Xuan Guanhua, Ning Houqi and 3 more

Systemic lupus erythematosus and prostate cancer risk: a pool of cohort studies and Mendelian randomization analysis.

Journal of cancer research and clinical oncology | 2023-09-01 | PMID 37213031

Ou Junyong, Zhen Kailan, Wu Yaqian and 7 more

An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2023-09-01 | PMID 37213040

Pereira Ângela, Tkachenko Nataliya, Fortuna Ana Maria and 3 more

The Formation and Drug Resistance Mechanism of Biofilm for Streptococcus pneumoniae Infection in Severe Respiratory Patients.

Cellular and molecular biology (Noisy-le-Grand, France) | 2023-01-31 | PMID 37213152

Sun Haiyan, Chai Xinlou, Xu Guangxun and 1 more

Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing (HBA2:c.224A>G).

Hematology (Amsterdam, Netherlands) | 2023-12-01 | PMID 37213176

Li Youqiong, Liang Shulin, Liang Liang and 2 more

Blood-based biomarkers of frailty in solid tumors: a systematic review.

Frontiers in public health | 2023-01-01 | PMID 37213604

Sass Dilorom, Parmelee Streck Brennan, Guedes Vivian A and 3 more

Impact of mini-driver genes in the prognosis and tumor features of colorectal cancer samples: a novel perspective to support current biomarkers.

PeerJ | 2023-01-01 | PMID 37214090

Campos Segura Anthony Vladimir, Velásquez Sotomayor Mariana Belén, Gutiérrez Román Ana Isabel Flor and 2 more

Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KATP channel gain-of-function.

Function (Oxford, England) | 2023-01-01 | PMID 37214333

Davis Michael J, Castorena-Gonzalez Jorge A, Kim Hae Jin and 3 more

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.

Frontiers in immunology | 2023-01-01 | PMID 37215141

Beers Breanna J, Similuk Morgan N, Ghosh Rajarshi and 33 more

Non-canonical integrin signaling activates EGFR and RAS-MAPK-ERK signaling in small cell lung cancer.

Theranostics | 2023-01-01 | PMID 37215577

Rubio Karla, Romero-Olmedo Addi J, Sarvari Pouya and 17 more

YAP1 synergize with YY1 transcriptional co-repress DUSP1 to induce osimertinib resistant by activating the EGFR/MAPK pathway and abrogating autophagy in non-small cell lung cancer.

International journal of biological sciences | 2023-01-01 | PMID 37215986

Ning Yue, Zheng Hongmei, Yang Yang and 9 more

The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome.

HGG advances | 2023-07-13 | PMID 37216009

Wei Ruipeng, Yehia Lamis, Ni Ying and 1 more

T Residues Preceded by Runs of G Are Hotspots of T→G Mutation in Bacteria.

Genome biology and evolution | 2023-06-01 | PMID 37216188

Cherry Joshua L

daf-42 is an evolutionarily young gene essential for dauer development in Caenorhabditis elegans.

Genetics | 2023-08-09 | PMID 37216205

Lim Daisy S, Kim Jun, Kim Wonjoo and 4 more

Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association.

Clinical immunology (Orlando, Fla.) | 2023-06-01 | PMID 37216220

Seyahi Emire, Ugurlu Serdal, Amikishiyev Shirkhan and 1 more

POLE exonuclease domain mutations in endometrial carcinoma: a case report.

Pathologica | 2023-05-01 | PMID 37216304

Pasciuto Maria Paola, Felicioni Lara, Zampacorta Claudia and 9 more

Resistance to integrase inhibitors in children with vertically-transmitted human immunodeficiency virus: First cases in Uruguay.

Archivos argentinos de pediatria | 2024-02-01 | PMID 37216306

González Castro Ana V, Sande Verónica, Pardo Casaretto Lorena V and 1 more

The switch states of the GDP-bound HRAS affected by point mutations: a study from Gaussian accelerated molecular dynamics simulations and free energy landscapes.

Journal of biomolecular structure & dynamics | 2024-04-01 | PMID 37216340

Bao Huayin, Wang Wei, Sun Haibo and 1 more

Role of deleterious nsSNPs of klotho protein and their drug response: a computational mechanical insights.

Journal of biomolecular structure & dynamics | 2024-04-01 | PMID 37216366

Jayaraj John Marshal, Muthusamy Karthikeyan

Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region.

PLoS genetics | 2023-05-01 | PMID 37216374

Capasso Serena, Cardiero Giovanna, Musollino Gennaro and 7 more

Arabidopsis FIN219/JAR1 interacts with phytochrome A under far-red light and jasmonates in regulating hypocotyl elongation via a functional demand manner.

PLoS genetics | 2023-05-01 | PMID 37216398

Jiang Han-Wei, Peng Kai-Chun, Hsu Ting-Yu and 2 more

Transcriptome-wide gene-gene interaction associations elucidate pathways and functional enrichment of complex traits.

PLoS genetics | 2023-05-01 | PMID 37216417

Evans Luke M, Arehart Christopher H, Grotzinger Andrew D and 5 more

CRHR1 polymorphism at rs242941, rs242940, and rs72834580: association of symptoms improvement with intranasal corticosteroids in allergic rhinitis Jordanian patients.

Drug metabolism and personalized therapy | 2023-12-01 | PMID 37216433

Zihlif Malek, Abusara Osama H, Al-Qerem Walid and 4 more

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.

Proceedings of the National Academy of Sciences of the United States of America | 2023-05-30 | PMID 37216524

Erger Florian, Aryal Rajindra P, Reusch Björn and 23 more

Mutation rates and adaptive variation among the clinically dominant clusters of Mycobacterium abscessus.

Proceedings of the National Academy of Sciences of the United States of America | 2023-05-30 | PMID 37216535

Commins Nicoletta, Sullivan Mark R, McGowen Kerry and 3 more

Biochemical and mechanistic analysis of the cleavage of branched DNA by human ANKLE1.

Nucleic acids research | 2023-06-23 | PMID 37216589

Freeman Alasdair D J, Déclais Anne-Cécile, Wilson Timothy J and 1 more

The AnnotSV webserver in 2023: updated visualization and ranking.

Nucleic acids research | 2023-07-05 | PMID 37216590

Geoffroy Véronique, Lamouche Jean-Baptiste, Guignard Thomas and 5 more

The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.

Human molecular genetics | 2023-07-20 | PMID 37216648

Lv Xiaoqing, Lin Feng, Wu Wenjing and 7 more

(Quasi) multitask support vector regression with heuristic hyperparameter optimization for whole-genome prediction of complex traits: a case study with carcass traits in broilers.

G3 (Bethesda, Md.) | 2023-08-09 | PMID 37216670

Alves Anderson Antonio Carvalho, Fernandes Arthur Francisco Araujo, Lopes Fernando Brito and 4 more

[From genotype to phenotype: amylase gene in childhood obesity].

Revista medica del Instituto Mexicano del Seguro Social | 2023-05-02 | PMID 37216679

Vázquez-Moreno Miguel Alexander, Cruz-López Miguel

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.

Blood | 2023-08-17 | PMID 37216690

Molteni Elisabetta, Bono Elisa, Gallì Anna and 11 more

The palmitoyltransferase ZDHHC21 regulates oxidative phosphorylation to induce differentiation block and stemness in AML.

Blood | 2023-07-27 | PMID 37216691

Shao Xuejing, Xu Aixiao, Du Wenxin and 12 more

Investigating volatile semiochemical production from Bos taurus and Bos indicus as a novel phenotype for breeding host resistance to ixodid ticks.

Ticks and tick-borne diseases | 2023-09-01 | PMID 37216729

Matika Oswald, Foster Sarah, Githaka Naftaly and 8 more

Generation of a human induced pluripotent stem cell line (FDCHi010-A) from a patient with Xia-Gibbs syndrome carrying AHDC1 mutation (c.2062C > T).

Stem cell research | 2023-06-01 | PMID 37216737

Yin Tingting, Wu Bingbing, Peng Ting and 3 more

miRNAs as potential game-changers in retinoblastoma: Future clinical and medicinal uses.

Pathology, research and practice | 2023-07-01 | PMID 37216745

Doghish Ahmed S, Moustafa Hebatallah Ahmed Mohamed, Elballal Mohammed S and 12 more

Chemotherapy for patients with EGFR-mutated NSCLC after progression on EGFR-TKI's: Exploration of efficacy of unselected treatment in a multicenter cohort study.

Lung cancer (Amsterdam, Netherlands) | 2023-07-01 | PMID 37216839

Steendam Christi M J, Ernst Sophie M, Badrising Sushil K and 4 more

Into the backyard: Multiple detections of PCV-2e in rural pig farms of Northern Italy. An unexpected ecological niche?

Preventive veterinary medicine | 2023-07-01 | PMID 37216841

Faustini Giulia, Tucciarone Claudia Maria, Legnardi Matteo and 5 more

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.

The Journal of clinical endocrinology and metabolism | 2023-10-18 | PMID 37216904

Clemente María, Cobo Patricia, Antolín María and 9 more

Polygenic pathogen networks influence transcriptional plasticity in the Arabidopsis-Botrytis pathosystem.

Genetics | 2023-07-06 | PMID 37216906

Krishnan Parvathy, Caseys Celine, Soltis Nik and 3 more

[Clinical Application Examples of a Next-Generation Sequencing based Multi-Genepanel Analysis].

Deutsche medizinische Wochenschrift (1946) | 2023-06-01 | PMID 37216946

Enko Dietmar, Schaflinger Erich, Müller Daniel J

Genetic diversity and functional implication of the long control region in human papillomavirus types 52, 58, and 16 from Central China.

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2023-08-01 | PMID 37217029

Yang ZhiPing, Zhang Chunlin, Luo Ping and 2 more

AFP deletion leads to anti-tumorigenic but pro-metastatic roles in liver cancers with concomitant CTNNB1 mutations.

Cancer letters | 2023-07-10 | PMID 37217071

Xu Ye, Zhang Xuefeng, Zhang Ruitian and 7 more

Correlation between immunotherapy biomarker PD-L1 expression and genetic alteration in patients with non-small cell lung cancer.

Genomics | 2023-07-01 | PMID 37217086

Chen Hefeng, Ge Mengxi, Zhang Fuchuang and 11 more

Erianin inhibits the growth and metastasis through autophagy-dependent ferroptosis in KRASG13D colorectal cancer.

Free radical biology & medicine | 2023-08-01 | PMID 37217090

Miao Qun, Deng Wei-Qing, Lyu Wen-Yu and 8 more

Substantiation of a clopidogrel metabolism-associated gene (CYP2C19) variation among healthy individuals.

Indian heart journal | 2000-01-01 | PMID 37217095

Yadav Anshu Kumar, Chakkumkollath Aparna Kodakkat, Helna Aysha and 5 more

Results from an IFCC global survey on laboratory practices for the analysis of circulating tumor DNA.

Clinica chimica acta; international journal of clinical chemistry | 2023-07-01 | PMID 37217114

Linder Mark W, Huggett Jim F, Baluchova Katarina and 7 more

TGFβ-2 haploinsufficiency causes early death in mice with Marfan syndrome.

Matrix biology : journal of the International Society for Matrix Biology | 2023-08-01 | PMID 37217119

Sachan Nalani, Phoon Colin K L, Zilberberg Lior and 8 more

The frequency of HKαα allele in silent deletional α-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing.

Gene | 2023-07-30 | PMID 37217151

Ning Sisi, Qin Yunrong, Liang Yunning and 7 more

Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.

Gene | 2023-07-30 | PMID 37217153

Borges Jéssica Bassani, Oliveira Victor Fernandes, Dagli-Hernandez Carolina and 41 more

More Than the Sum of Its Parts: Unlocking the Power of Network Structure for Understanding Organization and Function in Microbiomes.

Annual review of phytopathology | 2023-09-05 | PMID 37217203

Dundore-Arias J P, Michalska-Smith M, Millican M and 1 more

Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.

BMJ case reports | 2023-05-22 | PMID 37217231

Rao Naini Nishita, Burns Kharis, Manolikos Catherine and 1 more

Enabling tradeoffs in privacy and utility in genomic data Beacons and summary statistics.

Genome research | 2023-07-01 | PMID 37217251

Venkatesaramani Rajagopal, Wan Zhiyu, Malin Bradley A and 1 more

Canine and Feline Models of Inherited Retinal Diseases.

Cold Spring Harbor perspectives in medicine | 2024-02-01 | PMID 37217283

Petersen-Jones Simon M, Komáromy András M

Genes: RDH5

Challenges in the transfusion management of a 15-month-old pediatric patient with Bombay blood group phenotype.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis | 2023-08-01 | PMID 37217361

Malhotra Sheetal, Mulay Mansi, Maru Harita and 4 more

Morphological traits for allometric scaling of the European Sea Bass Dicentrarchus labrax (Linnaeus, 1758) from Southern Portugal population.

Journal of fish biology | 2023-08-01 | PMID 37217451

Azevedo Ana, Navarro Luiz C, Cavalheri Thaís and 3 more

Novel genetically engineered mouse models for clear cell renal cell carcinoma.

Scientific reports | 2023-05-22 | PMID 37217526

van der Mijn Johannes C, Laursen Kristian B, Fu Leiping and 7 more

New insights into the molecular basis of spinal neurofibromatosis type 1.

European journal of human genetics : EJHG | 2023-08-01 | PMID 37217626

Bettinaglio Paola, Mangano Eleonora, Tritto Viviana and 11 more

Genetic testing in monogenic early-onset atrial fibrillation.

European journal of human genetics : EJHG | 2023-07-01 | PMID 37217627

Chalazan Brandon, Freeth Emma, Mohajeri Arezoo and 9 more

Genetic predisposition to macronutrient preference and workplace food choices.

Molecular psychiatry | 2023-06-01 | PMID 37217678

Merino Jordi, Dashti Hassan S, Levy Douglas E and 5 more