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.

Semantic proximity supports literature exploration. It does not establish scientific or clinical evidence.

Publications

Page 9054 of 10600

Testing Association of Previously Implicated Gene Sets and Gene-Networks in Nicotine Exposed Mouse Models with Human Smoking Phenotypes.
Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco | 2023-04-06 | PMID 36444815
Mize Travis J, Funkhouser Scott A, Buck Jordan M and 3 more
Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP).
Ophthalmic genetics | 2023-06-01 | PMID 36444989
López-Cañizares Ashley, Lazzarini Thomas A, Mendoza Carlos and 1 more
Temporal phenomic predictions from unoccupied aerial systems can outperform genomic predictions.
G3 (Bethesda, Md.) | 2023-01-12 | PMID 36445027
Adak Alper, Murray Seth C, Anderson Steven L
Body mass index and molecular subtypes of colorectal cancer.
Journal of the National Cancer Institute | 2023-02-08 | PMID 36445035
Murphy Neil, Newton Christina C, Song Mingyang and 54 more
Genes: BRAF, KRAS
Middle East and North Africa Registry to Characterize Rate of RAS Testing Status in Newly Diagnosed Patients with Metastatic Colorectal Cancer.
The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology | 2023-02-01 | PMID 36445057
Oukkal Mohammed, Bouzid Kamel, Bounedjar Adda and 8 more
Detection of Antimalarial Resistance-Associated Mutations in Plasmodium falciparum via a Platform of Allele-Specific PCR Combined with a Gold Nanoparticle-Based Lateral Flow Assay.
Microbiology spectrum | 2022-12-21 | PMID 36445076
Cheng Weijia, Wang Wei, Zhu Huiyin and 3 more
Phenotypic Assessment of Clinical Escherichia coli Isolates as an Indicator for Uropathogenic Potential.
mSystems | 2022-12-20 | PMID 36445110
Shea A E, Frick-Cheng A E, Smith S N and 1 more
Transcriptional Potential Determines the Adaptability of Escherichia coli Strains with Different Fitness Backgrounds.
Microbiology spectrum | 2022-12-21 | PMID 36445144
Kim Kitae, Kwon Soon-Kyeong, Kim Pil and 1 more
Added Value of Next Generation over Sanger Sequencing in Kenyan Youth with Extensive HIV-1 Drug Resistance.
Microbiology spectrum | 2022-12-21 | PMID 36445146
Novitsky V, Nyandiko W, Vreeman R and 11 more
LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL.
Cancer discovery | 2023-03-01 | PMID 36445254
Ko Aram, Hasanain Mohammad, Oh Young Taek and 16 more
Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.
Brain : a journal of neurology | 2023-03-01 | PMID 36445400
Zambon Alberto A, Pini Veronica, Bosco Luca and 4 more
The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia.
Virchows Archiv : an international journal of pathology | 2023-01-01 | PMID 36445482
Rudelius Martina, Weinberg Olga K, Niemeyer Charlotte M and 2 more
Risk Stratification of Sentinel Node Metastasis Disease Burden and Phenotype in Stage III Melanoma Patients.
Annals of surgical oncology | 2023-03-01 | PMID 36445500
Hussain Zahra, Heaton Martin J, Snelling Andrew P and 4 more
Severity of Autism Spectrum Disorder Symptoms Associated with de novo Variants and Pregnancy-Induced Hypertension.
Journal of autism and developmental disorders | 2024-02-01 | PMID 36445517
Wang Xiaomeng, Ling Zhengbao, Luo Tengfei and 5 more
Concurrent classic driver oncogenes mutation with ROS1 rearrangement predicts superior clinical outcome in NSCLC patients.
Genes & genomics | 2023-01-01 | PMID 36445572
Li Dandan, Jiang Hua, Jin Faguang and 4 more
Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.
Neurogenetics | 2023-01-01 | PMID 36445597
Gilboa Tal, Elefant Naama, Meiner Vardiella and 1 more
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome.
Familial cancer | 2023-07-01 | PMID 36445599
Bouras Ahmed, Naibo Pierre, Legrand Clémentine and 5 more
Significance of hypergammaglobulinemia in patients with chronic myelomonocytic leukemia.
Wiener medizinische Wochenschrift (1946) | 2023-02-01 | PMID 36445600
Zack Marie-Therese, Geissler Klaus
Psychological Resilience Mediates the Association Between Childhood Maltreatment and Self-Harm Phenotype in Chinese Early Adolescents.
Child psychiatry and human development | 2024-08-01 | PMID 36445604
Li Yuan, Li Yong-Han, He Yang and 7 more
Safety and Efficacy of CYP2C19 Genotype-Guided Escalation of P2Y12 Inhibitor Therapy After Percutaneous Coronary Intervention in Chronic Kidney Disease: a Post Hoc Analysis of the TAILOR-PCI Study.
Cardiovascular drugs and therapy | 2024-06-01 | PMID 36445624
Mathew Roy O, Sidhu Mandeep S, Rihal Charanjit S and 17 more
Genes: CYP2C19
Joint Analysis of Phenotypic and Genomic Diversity Sheds Light on the Evolution of Xenobiotic Metabolism in Humans.
Genome biology and evolution | 2022-12-08 | PMID 36445690
Mouterde Médéric, Daali Youssef, Rollason Victoria and 14 more
Towards Understanding the Molecular Mechanisms of Immunogenic Cell Death.
Chembiochem : a European journal of chemical biology | 2023-03-14 | PMID 36445798
Xiong Xiaolin, Wang Yuan, Zou Taotao
Increasing plant group productivity through latent genetic variation for cooperation.
PLoS biology | 2022-11-01 | PMID 36445870
Wuest Samuel E, Pires Nuno D, Luo Shan and 4 more
Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.
Proceedings of the National Academy of Sciences of the United States of America | 2022-12-06 | PMID 36445968
Cehajic-Kapetanovic Jasmina, Martinez-Fernandez de la Camara Cristina, Birtel Johannes and 5 more
Comparison of PIK3CA Mutation Prevalence in Breast Cancer Across Predicted Ancestry Populations.
JCO precision oncology | 2022-11-01 | PMID 36446041
Chen Jessica W, Murugesan Karthikeyan, Newberg Justin Y and 5 more
Amyotrophic lateral sclerosis disease-related mutations disrupt the dimerization of superoxide dismutase 1 - A comparative molecular dynamics simulation study.
Computers in biology and medicine | 2022-12-01 | PMID 36446187
Basith Shaherin, Manavalan Balachandran, Lee Gwang
Genetic link between rheumatoid arthritis and autoimmune liver diseases: A two-sample Mendelian randomization study.
Seminars in arthritis and rheumatism | 2023-02-01 | PMID 36446255
Fan Junyu, Jiang Ting, He Dongyi
Unsupervised machine-learning algorithms for the identification of clinical phenotypes in the osteoarthritis initiative database.
Seminars in arthritis and rheumatism | 2023-02-01 | PMID 36446256
Demanse David, Saxer Franziska, Lustenberger Patrick and 8 more
GenoType MTBDRsl for detection of second-line drugs and ethambutol resistance in multidrug-resistant Mycobacterium tuberculosis isolates at a high-throughput laboratory.
Diagnostic microbiology and infectious disease | 2023-02-01 | PMID 36446302
Pinhata Juliana Maira Watanabe, Brandao Angela Pires, Gallo Juliana Failde and 2 more
The SCN5A Gene Is a Predictor of Phenotype Severity in Brugada Syndrome: A Comprehensive Literature Review.
Medical principles and practice : international journal of the Kuwait University, Health Science Centre | 2023-01-01 | PMID 36446338
Deica Andreea Valentina, Paduraru Livia Florentina, Paduraru Dan Nicolae and 1 more
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.
Immunity | 2022-12-13 | PMID 36446385
Masle-Farquhar Etienne, Jackson Katherine J L, Peters Timothy J and 28 more
Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.
Lymphology | 2022-01-01 | PMID 36446400
Geng X, Chen L, Srinivasan R S and 3 more
Pandemic Vibrio cholerae acquired competitive traits from an environmental Vibrio species.
Life science alliance | 2023-02-01 | PMID 36446527
Santoriello Francis J, Kirchberger Paul C, Boucher Yann and 1 more
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Journal of medical genetics | 2023-07-01 | PMID 36446582
Martinez-Cayuelas Elena, Blanco-Kelly Fiona, Lopez-Grondona Fermina and 49 more
Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.
Journal of medical genetics | 2023-07-01 | PMID 36446583
Meng Fanlei, Li Xin, Zhang Jinlu and 8 more
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
Journal of medical genetics | 2023-07-01 | PMID 36446584
Carrasco Estela, López-Fernández Adrià, Codina-Sola Marta and 16 more
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.
Brain & development | 2023-03-01 | PMID 36446697
Politano Davide, Gana Simone, Pezzotti Elena and 6 more
Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities.
Translational psychiatry | 2022-11-29 | PMID 36446759
Price Kaitlyn M, Wigg Karen G, Eising Else and 9 more
Chronic lymphocytic leukemia treatment algorithm 2022.
Blood cancer journal | 2022-11-29 | PMID 36446777
Hampel Paul J, Parikh Sameer A
Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.
Scientific reports | 2022-11-29 | PMID 36446793
Duchnowska Renata, Supernat Anna Maria, Pęksa Rafał and 15 more
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy.
Journal of human genetics | 2023-02-01 | PMID 36446828
Wang Guangyu, Zhao Dandan, Yan Chuanzhu and 1 more
CARD11 mutation and HBZ expression induce lymphoproliferative disease and adult T-cell leukemia/lymphoma.
Communications biology | 2022-11-29 | PMID 36446869
Kameda Takuro, Shide Kotaro, Kamiunten Ayako and 20 more
Loss-of-function mutations of SOX17 lead to YAP/TEAD activation-dependent malignant transformation in endometrial cancer.
Oncogene | 2023-01-01 | PMID 36446891
Wang Mengfei, Yan Qin, Song Yunfeng and 4 more
Examination of a novel expression-based gene-SNP annotation strategy to identify tissue-specific contributions to heritability in multiple traits.
European journal of human genetics : EJHG | 2024-03-01 | PMID 36446896
Mize Travis J, Evans Luke M
The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).
Journal of assisted reproduction and genetics | 2023-01-01 | PMID 36447079
Poteet Bonnie, Ali Nadia, Bellcross Cecelia and 4 more
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Cerebellum (London, England) | 2023-12-01 | PMID 36447112
Colucci Fabiana, Neri Marcella, Fortunato Fernanda and 8 more
Oxytocin receptor single nucleotide polymorphism predicts atony-related postpartum hemorrhage.
BMC pregnancy and childbirth | 2022-11-29 | PMID 36447139
Erickson Elise N, Krol Kathleen M, Perkeybile Allison M and 2 more
Transfer learning for genotype-phenotype prediction using deep learning models.
BMC bioinformatics | 2022-11-29 | PMID 36447153
Muneeb Muhammad, Feng Samuel, Henschel Andreas
Bidirectional genetic overlap between bipolar disorder and intelligence.
BMC medicine | 2022-11-30 | PMID 36447210
Shang Meng-Yuan, Wu Yong, Zhang Chu-Yi and 6 more
Analysis of molecular pathologic and clinical features of 36 patients with pulmonary sarcomatoid carcinoma.
BMC pulmonary medicine | 2022-11-29 | PMID 36447228
Yu Yingying, Duan Xiumei, Wang Shuai and 4 more
A genome-wide association study identifies a novel association between SDC3 and apparent treatment-resistant hypertension.
BMC medicine | 2022-11-30 | PMID 36447229
Xiao Xiao, Li Rui, Wu Cunjin and 9 more
Gene Coverage Count and Classification (GC3): a locus sequence coverage assessment tool using short-read whole genome sequencing data, and its application to identify and classify histidine-rich protein 2 and 3 deletions in Plasmodium falciparum.
Malaria journal | 2022-11-29 | PMID 36447234
Stabler Thomas C, Dwivedi Ankit, Shrestha Biraj and 6 more
Contribution of PNPLA3 gene polymorphisms to hepatocellular carcinoma susceptibility in the Chinese Han population.
BMC medical genomics | 2022-11-29 | PMID 36447249
Gong Dongwei, Li Shizong, Yu Zhiwei and 3 more
Four emerging immune cellular blood phenotypes associated with disease duration and activity established in Psoriatic Arthritis.
Arthritis research & therapy | 2022-11-29 | PMID 36447253
Skougaard Marie, Ditlev Sisse B, Stisen Zara R and 3 more
Genomic selection performs as effectively as phenotypic selection for increasing seed yield in soybean.
The plant genome | 2023-03-01 | PMID 36447395
Bandillo Nonoy B, Jarquin Diego, Posadas Luis G and 2 more
Genes: TBP
Integration of high-throughput phenotyping, GWAS, and predictive models reveals the genetic architecture of plant height in maize.
Molecular plant | 2023-02-06 | PMID 36447436
Wang Weixuan, Guo Weijun, Le Liang and 11 more
Childhood Early T Cell Precursor Acute Lymphoblastic Leukaemia with t(12;17) (p13;q21) Translocation - A Rare Entity or Part of ETP/Myeloid Mixed Phenotype Acute Leukaemia.
The Gulf journal of oncology | 2022-09-01 | PMID 36448075
Krishnan Yamini, S Gazel, Joy Aswin and 3 more
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
American journal of medical genetics. Part C, Seminars in medical genetics | 2022-12-01 | PMID 36448195
Kenney-Jung Daniel L, Rogers Dante J, Kroening Samuel J and 12 more
TF and TCF4 gene polymorphisms are linked to autism spectrum disorder: a case-control study.
The Journal of international medical research | 2022-11-01 | PMID 36448207
Azmerin Maria, Hussain Md Saddam, Aziz Md Abdul and 8 more
A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability.
Molecular genetics & genomic medicine | 2023-04-01 | PMID 36448232
Liu Xingyu, Zhao Yuming, Zhu Junxia
Proteome changes in autosomal recessive primary microcephaly.
Annals of human genetics | 2023-03-01 | PMID 36448252
Zaqout Sami, Mannaa Atef, Klein Oliver and 9 more
Identification of the novel HLA-C*02:212 allele detected in a potential hematopoietic stem cell donor.
HLA | 2023-05-01 | PMID 36448291
Ananeva Anastasiia, Shcherbakova Anastasia, Kuznetsova Anna and 2 more
Cryptic mutations of PLC family members in brain disorders: recent discoveries and a deep-learning-based approach.
Brain : a journal of neurology | 2023-04-19 | PMID 36448305
Lim Key-Hwan, Yang Sumin, Kim Sung-Hyun and 3 more
Functional genetic variation in 3'UTR of PARP1 indicates a decreased risk and a better severity of ischemic stroke.
The International journal of neuroscience | 2024-07-01 | PMID 36448327
Gu Lujun, Wang Qingguang, Xu Gangtao and 1 more
Genes: PARP1
Temperature regime during embryogenesis alters subsequent behavioural phenotypes of juvenile brown trout.
Biology letters | 2022-11-01 | PMID 36448368
Takatsu Kunio, Selz Oliver M, Brodersen Jakob
Distribution and genetic diversity of Feline calicivirus in Moscow metropolitan area.
Journal of veterinary science | 2022-11-01 | PMID 36448438
Komina Alina, Krasnikov Nikita, Kucheruk Oksana and 3 more
Artificial intelligence model with deep learning in nonalcoholic fatty liver disease diagnosis: genetic based artificial neural networks.
Nucleosides, nucleotides & nucleic acids | 2023-01-01 | PMID 36448439
Ülger Yakup, Delik Anıl
Detection of genetic variation in bovine CRY1 gene and its associations with carcass traits.
Animal biotechnology | 2023-12-01 | PMID 36448652
Zhang Kejing, Mi Fang, Li Xuelan and 5 more
Genes: CRY1
Phenomapping in heart failure with preserved ejection fraction: insights, limitations, and future directions.
Cardiovascular research | 2023-02-03 | PMID 36448685
Peters Anthony E, Tromp Jasper, Shah Sanjiv J and 8 more
Expression profile of FASN gene and association of its polymorphisms with intramuscular fat content in Hu sheep.
Animal biotechnology | 2023-12-01 | PMID 36448692
Liu Chongyang, Liu Xing, Yuan Zehu and 3 more
Effect of APOE ε4 genotype on amyloid-β, glucose metabolism, and gray matter volume in cognitively normal individuals and amnestic mild cognitive impairment.
European journal of neurology | 2023-03-01 | PMID 36448771
Li Weihua, Li Runtian, Yan Shaozhen and 4 more
UBTF-internal tandem duplication as a novel poor prognostic factor in pediatric acute myeloid leukemia.
Genes, chromosomes & cancer | 2023-04-01 | PMID 36448876
Kaburagi Taeko, Shiba Norio, Yamato Genki and 18 more
Noncoding rare variants in PANX3 are associated with chronic back pain.
Pain | 2023-04-01 | PMID 36448979
Belonogova Nadezhda M, Kirichenko Anatoly V, Freidin Maxim B and 5 more
Variability of functional knee phenotype for coronal alignment in advanced varus knee osteoarthritis in the Japanese population.
Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA | 2023-04-01 | PMID 36449045
Huan Wang, Mochizuki Tomoharu, Tanifuji Osamu and 1 more
Distinct frequency patterns of LILRB3 and LILRA6 allelic variants in Europeans.
Immunogenetics | 2023-06-01 | PMID 36449053
Bashirova Arman A, Kasprzak Wojciech, O'hUigin Colm and 1 more
Detection of IL-17A and IL-17F gene polymorphism in recurrent and disseminated pityriasis versicolor: a case-control study.
Archives of dermatological research | 2023-07-01 | PMID 36449073
El-Tahlawi S R, Ramadan A H, Shaker O G and 1 more
Structural variation and eQTL analysis in two experimental populations of chickens divergently selected for feather-pecking behavior.
Neurogenetics | 2023-01-01 | PMID 36449109
Falker-Gieske Clemens, Bennewitz Jörn, Tetens Jens
Translational Approach for Predicting Human Pharmacokinetics of Engineered Therapeutic Monoclonal Antibodies with Increased FcRn-Binding Mutations.
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy | 2023-01-01 | PMID 36449140
Haraya Kenta, Tachibana Tatsuhiko
Genotyping of Transposable Element Insertions Segregating in Human Populations Using Short-Read Realignments.
Methods in molecular biology (Clifton, N.J.) | 2023-01-01 | PMID 36449158
Chen Xun, Bourque Guillaume, Goubert Clément
A Pangenome Approach to Detect and Genotype TE Insertion Polymorphisms.
Methods in molecular biology (Clifton, N.J.) | 2023-01-01 | PMID 36449159
Groza Cristian, Bourque Guillaume, Goubert Clément
Acneiform Eruption Following Elexacaftor-Tezacaftor-Ivacaftor Treatment in Patients With Cystic Fibrosis.
JAMA dermatology | 2023-01-01 | PMID 36449298
Okroglic Léa, Sohier Pierre, Martin Clémence and 8 more
Indirect evaluation of amyloid deposition by ultrasonography and its relationship with MEFV gene mutation in FMF patients.
Journal of clinical ultrasound : JCU | 2023-05-01 | PMID 36449313
Urfali Mine, Yilmaz Gürkan, Özkul Bahattin and 1 more
An efficient method to predict protein thermostability in alanine mutation.
Physical chemistry chemical physics : PCCP | 2022-12-14 | PMID 36449314
Gao Ya, Wang Bo, Hu Shiyu and 2 more
Thymic macrophages consist of two populations with distinct localization and origin.
eLife | 2022-11-30 | PMID 36449334
Zhou Tyng-An, Hsu Hsuan-Po, Tu Yueh-Hua and 8 more
A novel deleterious oxytocin variant is associated with the lower twinning ratio in Awassi ewes.
Animal biotechnology | 2023-12-01 | PMID 36449364
Khazaal Neam M, Alghetaa Hasan F, Al-Shuhaib Mohammed Baqur S and 2 more
Genes: OXT
An exotic allele of barley EARLY FLOWERING 3 contributes to developmental plasticity at elevated temperatures.
Journal of experimental botany | 2023-04-27 | PMID 36449391
Zhu Zihao, Esche Finn, Babben Steve and 5 more
Discovering cooperative traits in crop plants.
PLoS biology | 2022-11-01 | PMID 36449481
Dudley Susan A
Black Queen Hypothesis, partial privatization, and quorum sensing evolution.
PloS one | 2022-01-01 | PMID 36449503
Souza Lucas Santana, Irie Yasuhiko, Eda Shigetoshi
The intracellular immune receptor like gene SNC1 is an enhancer of effector-triggered immunity in Arabidopsis.
Plant physiology | 2023-02-12 | PMID 36449532
Wang Zhixue, Yang Leiyun, Hua Jian
SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?
Endocrine-related cancer | 2023-02-01 | PMID 36449569
Branzoli Francesca, Salgues Betty, Marjańska Małgorzata and 13 more
Chemical induction of splice-neoantigens attenuates tumor growth in a preclinical model of colorectal cancer.
Science translational medicine | 2022-11-30 | PMID 36449604
Matsushima Shingo, Ajiro Masahiko, Iida Kei and 3 more
Decreasing Wapl dosage partially corrects embryonic growth and brain transcriptome phenotypes in Nipbl+/- embryos.
Science advances | 2022-12-02 | PMID 36449618
Kean Connor M, Tracy Christopher J, Mitra Apratim and 8 more
Dynamic Mutational Landscape of Cerebrospinal Fluid Circulating Tumor DNA and Predictors of Survival after Proton Craniospinal Irradiation for Leptomeningeal Metastases.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2023-02-16 | PMID 36449664
Wijetunga N Ari, Goglia Alexander G, Weinhold Nils and 11 more
Changes of Mutations and Copy-Number and Enhanced Cell Migration during Breast Tumorigenesis.
Advanced biology | 2023-02-01 | PMID 36449747
Lee Seung Hyuk T, Kim Joon Yup, Kim Peter and 3 more
Investigation of allele frequencies of polymorphic variants in genes that are related to polycystic ovary syndrome.
Revista da Associacao Medica Brasileira (1992) | 2022-01-01 | PMID 36449775
Adam Abdulkadir Rabiu, Ozbakir Burcu, Ozay Ali Cenk and 1 more
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.
Vision research | 2023-02-01 | PMID 36450205
Cideciyan Artur V, Jacobson Samuel G, Sumaroka Alexander and 10 more
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Brain pathology (Zurich, Switzerland) | 2023-05-01 | PMID 36450274
Muñoz-Pujol Gerard, Ortigoza-Escobar Juan D, Paredes-Fuentes Abraham J and 16 more
Statistical phasing of 150,119 sequenced genomes in the UK Biobank.
American journal of human genetics | 2023-01-05 | PMID 36450278
Browning Brian L, Browning Sharon R
Clonal Hematopoiesis and Its Impact on Human Health.
Annual review of medicine | 2023-01-27 | PMID 36450282
Ahmad Herra, Jahn Nikolaus, Jaiswal Siddhartha
Allelic correlation is a marker of trade-offs between barriers to transmission of expression variability and signal responsiveness in genetic networks.
Cell systems | 2022-12-21 | PMID 36450286
Boe Ryan H, Ayyappan Vinay, Schuh Lea and 1 more