Biomedical publications with connected research

Gene-environment interaction in type 2 diabetes in Korean cohorts: Interaction of a type 2 diabetes polygenic risk score with triglyceride and cholesterol on fasting glucose levels.

Genetic epidemiology | 2022-07-01 | PMID 35481584

Lim Ji Eun, Kang Ji-One, Ha Tae-Woong and 10 more

Mutation spectrum of congenital heart disease in a consanguineous Turkish population.

Molecular genetics & genomic medicine | 2022-06-01 | PMID 35481623

Dong Weilai, Kaymakcalan Hande, Jin Sheng Chih and 9 more

Structural dynamics shape the fitness window of alanine:glyoxylate aminotransferase.

Protein science : a publication of the Protein Society | 2022-05-01 | PMID 35481644

Dindo Mirco, Pascarelli Stefano, Chiasserini Davide and 6 more

Predictive metabolic networks reveal sex- and APOE genotype-specific metabolic signatures and drivers for precision medicine in Alzheimer's disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association | 2023-02-01 | PMID 35481667

Chang Rui, Trushina Eugenia, Zhu Kuixi and 13 more

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update.

Movement disorders : official journal of the Movement Disorder Society | 2022-05-01 | PMID 35481685

Lange Lara M, Gonzalez-Latapi Paulina, Rajalingam Rajasumi and 14 more

Global and regional circulation trends of norovirus genotypes and recombinants, 1995-2019: A comprehensive review of sequences from public databases.

Reviews in medical virology | 2022-09-01 | PMID 35481689

Kendra Joseph A, Tohma Kentaro, Parra Gabriel I

Phylogenetic and Phenotypic Analyses of a Collection of Food and Clinical Listeria monocytogenes Isolates Reveal Loss of Function of Sigma B from Several Clonal Complexes.

Applied and environmental microbiology | 2022-05-24 | PMID 35481758

Wu Jialun, NicAogáin Kerrie, McAuliffe Olivia and 2 more

Binding Interactions between Receptor-Binding Domain of Spike Protein and Human Angiotensin Converting Enzyme-2 in Omicron Variant.

The journal of physical chemistry letters | 2022-05-05 | PMID 35481766

Jawad Bahaa, Adhikari Puja, Podgornik Rudolf and 1 more

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.

Investigative ophthalmology & visual science | 2022-04-01 | PMID 35481838

Smirnov Vasily M, Nassisi Marco, Mohand-Saïd Saddek and 11 more

The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.

Clinical and experimental immunology | 2022-06-23 | PMID 35481870

Sharifinejad Niusha, Zaki-Dizaji Majid, Sepahvandi Roya and 6 more

Impact of Vitamin D Receptor Gene Polymorphism on Systemic Lupus Erythematosus Susceptibility: A Pooled Analysis.

Genetic testing and molecular biomarkers | 2022-04-01 | PMID 35481967

Yang Shi-Kun, Liu Na, Zhang Wei-Juan and 4 more

Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.

Annals of clinical and translational neurology | 2022-05-01 | PMID 35482004

Ando Masahiro, Higuchi Yujiro, Yuan Jun-Hui and 14 more

Comparative Study of Protein Aggregation Propensity and Mutation Tolerance Between Naked Mole-Rat and Mouse.

Genome biology and evolution | 2022-05-03 | PMID 35482036

Besse Savandara, Poujol Raphaël, Hussin Julie G

Rapid Intraspecies Evolution of Fitness Effects of Yeast Genes.

Genome biology and evolution | 2022-05-03 | PMID 35482054

Wang Yayu, Jiang Bei, Wu Yue and 2 more

Mediators of the association between educational attainment and type 2 diabetes mellitus: a two-step multivariable Mendelian randomisation study.

Diabetologia | 2022-08-01 | PMID 35482055

Zhang Jia, Chen Zekai, Pärna Katri and 3 more

Expression of stable and reliable preference and aversion phenotypes following place conditioning with psychostimulants.

Psychopharmacology | 2022-08-01 | PMID 35482071

Shetty Ritu A, Rutledge Margaret, LeBouf Alison and 3 more

Clinical and genetic correlations of scoliosis in Rett syndrome.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society | 2022-11-01 | PMID 35482072

Rodocanachi Roidi Marina Luisa, Cozzi Francesca, Isaias Ioannis Ugo and 3 more

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

Journal of clinical immunology | 2022-07-01 | PMID 35482138

El Hawary Rabab E, Meshaal Safa S, Abd Elaziz Dalia S and 10 more

Life history traits and dispersal shape neutral genetic diversity in metapopulations.

Journal of mathematical biology | 2022-04-28 | PMID 35482139

Garnier Jimmy, Lafontaine Pierre

Site-wise Diversification of Combinatorial Libraries Using Insights from Structure-guided Stability Calculations.

Methods in molecular biology (Clifton, N.J.) | 2022-01-01 | PMID 35482184

Dolgikh Benedikt, Woldring Daniel

Engineering Proteins by Combining Deep Mutational Scanning and Yeast Display.

Methods in molecular biology (Clifton, N.J.) | 2022-01-01 | PMID 35482188

Sharma Preeti, Procko Erik, Kranz David M

Racial and Ethnic Variation in Genetic Susceptibility: Are Disparities in Infertility Prevalence and Outcomes more than Black and White?

Reproductive sciences (Thousand Oaks, Calif.) | 2022-07-01 | PMID 35482220

Morris Jerrine R, Plowden Torie Comeaux, Green Lisa J and 2 more

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.

Genes & genomics | 2022-06-01 | PMID 35482246

Tang Xiaojun, Xu Wuhen, Song Xiaozhen and 6 more

T2-fluid-attenuated inversion recovery mismatch sign in lower grade gliomas: correlation with pathological and molecular findings.

Brain tumor pathology | 2022-04-01 | PMID 35482260

Yamashita Shinji, Takeshima Hideo, Kadota Yoshihito and 12 more

Climate Warming Since the Holocene Accelerates West-East Communication for the Eurasian Temperate Water Strider Species Aquarius paludum.

Molecular biology and evolution | 2022-05-03 | PMID 35482393

Ye Zhen, Yuan Juanjuan, Damgaard Jakob and 9 more

Tumor mutational burden measurement using comprehensive genomic profiling assay.

Japanese journal of clinical oncology | 2022-08-05 | PMID 35482395

Kage Hidenori, Kohsaka Shinji, Tatsuno Kenji and 8 more

A Genetic Bottleneck of Mitochondrial DNA During Human Lymphocyte Development.

Molecular biology and evolution | 2022-05-03 | PMID 35482398

Tang Zhongjie, Lu Zhaolian, Chen Baizhen and 4 more

An empirical evaluation of genotype imputation of ancient DNA.

G3 (Bethesda, Md.) | 2022-05-30 | PMID 35482488

Ausmees Kristiina, Sanchez-Quinto Federico, Jakobsson Mattias and 1 more

The L-shaped selection algorithm for multitrait genomic selection.

Genetics | 2022-07-04 | PMID 35482523

Amini Fatemeh, Hu Guiping, Wang Lizhi and 1 more

XePhIR: the zebrafish xenograft phenotype interactive repository.

Database : the journal of biological databases and curation | 2022-04-28 | PMID 35482537

Groenewoud A, Forn-Cuní G, Engel F B and 1 more

ATP7A, ATP7B, and RETN genotypes in Labrador Retrievers with and without copper-associated hepatopathy.

Journal of the American Veterinary Medical Association | 2022-04-27 | PMID 35482566

Langlois Daniel K, Nagler Brendan S M, Smedley Rebecca C and 2 more

Ecological and Phenotypic Diversification after a Continental Invasion in Neotropical Freshwater Stingrays.

Integrative and comparative biology | 2022-08-25 | PMID 35482600

Kolmann M A, Marques F P L, Weaver J C and 3 more

Prevalence of uncoupling protein one genetic polymorphisms and their relationship with cardiovascular and metabolic health.

PloS one | 2022-01-01 | PMID 35482655

Dinas Petros C, Nintou Eleni, Vliora Maria and 26 more

Efficacy of liquid biopsy for disease monitoring and early prediction of tumor progression in EGFR mutation-positive non-small cell lung cancer.

PloS one | 2022-01-01 | PMID 35482671

Ho Hsiang-Ling, Jiang Yuqiu, Chiang Chi-Lu and 9 more

A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program.

PLoS genetics | 2022-04-01 | PMID 35482673

Verma Anurag, Tsao Noah L, Thomann Lauren O and 33 more

Misfolded GBA/β-glucocerebrosidase impairs ER-quality control by chaperone-mediated autophagy in Parkinson disease.

Autophagy | 2022-12-01 | PMID 35482760

Kuo Sheng-Han, Tasset Inmaculada, Cuervo Ana Maria and 1 more

Non-canonical genomic driver mutations of urethane carcinogenesis.

PloS one | 2022-01-01 | PMID 35482806

Li Siqi, Counter Christopher M

Mutations in the SARS-CoV-2 RNA-dependent RNA polymerase confer resistance to remdesivir by distinct mechanisms.

Science translational medicine | 2022-08-03 | PMID 35482820

Stevens Laura J, Pruijssers Andrea J, Lee Hery W and 14 more

Subnuclear localisation is associated with gene expression more than parental origin at the imprinted Dlk1-Dio3 locus.

PLoS genetics | 2022-04-01 | PMID 35482825

Mashoodh Rahia, Hülsmann Lisa C, Dearden Frances L and 3 more

A computationally efficient clustering linear combination approach to jointly analyze multiple phenotypes for GWAS.

PloS one | 2022-01-01 | PMID 35482827

Wang Meida, Zhang Shuanglin, Sha Qiuying

New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis.

Circulation research | 2022-04-29 | PMID 35482831

Aldred Micheala A, Morrell Nicholas W, Guignabert Christophe

Mutations in V-ATPase in follicular lymphoma activate autophagic flux creating a targetable dependency.

Autophagy | 2023-02-01 | PMID 35482846

Wang Fangyang, Yang Ying, Klionsky Daniel J and 1 more

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

PLoS genetics | 2022-04-01 | PMID 35482848

Ralph Douglas, Nitschke Yvonne, Levine Michael A and 9 more

Stepwise-edited, human melanoma models reveal mutations' effect on tumor and microenvironment.

Science (New York, N.Y.) | 2022-04-29 | PMID 35482859

Hodis Eran, Torlai Triglia Elena, Kwon John Y H and 17 more

Ancestry-inclusive dog genomics challenges popular breed stereotypes.

Science (New York, N.Y.) | 2022-04-29 | PMID 35482869

Morrill Kathleen, Hekman Jessica, Li Xue and 22 more

Mitochondrial mutations alter endurance exercise response and determinants in mice.

Proceedings of the National Academy of Sciences of the United States of America | 2022-05-03 | PMID 35482926

Schaefer Patrick M, Rathi Komal, Butic Arrienne and 3 more

Epigenetic induction may speed up or slow down speciation with gene flow.

Evolution; international journal of organic evolution | 2022-06-01 | PMID 35482931

Greenspoon Philip B, Spencer Hamish G, M'Gonigle Leithen K

Consequences of partially recessive deleterious genetic variation for the evolution of inversions suppressing recombination between sex chromosomes.

Evolution; international journal of organic evolution | 2022-06-01 | PMID 35482933

Olito Colin, Ponnikas Suvi, Hansson Bengt and 1 more

Mutated SETBP1 activates transcription of Myc programs to accelerate CSF3R-driven myeloproliferative neoplasms.

Blood | 2022-08-11 | PMID 35482940

Carratt Sarah A, Kong Garth L, Curtiss Brittany M and 8 more

Correlation between polymorphism of vitamin D receptor TaqI and susceptibility to tuberculosis: An update meta-analysis.

Medicine | 2022-04-22 | PMID 35482984

Li Bin, Wen Fei, Wang Zhaofen

Discovery of Small-Molecule Inhibitors of the PTK7/β-Catenin Interaction Targeting the Wnt Signaling Pathway in Colorectal Cancer.

ACS chemical biology | 2022-05-20 | PMID 35483008

Ganier Laetitia, Betzi Stephane, Derviaux Carine and 6 more

OCULAR DECOMPRESSION RETINOPATHY WITH BRANCH RETINAL VEIN OCCLUSION MTHF-R GENETIC MUTATION.

Retinal cases & brief reports | 2023-11-01 | PMID 35483034

Benlahbib Manal, Huang Lydie J, Cohen Salomon Yves and 1 more

The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society | 2022-09-01 | PMID 35483081

Chen Benson S, Holzinger Erik, Taiel Magali and 1 more

Genetic variation in piglet mortality in outdoor organic production systems.

Animal : an international journal of animal bioscience | 2022-05-01 | PMID 35483172

Chu Thinh T, Zaalberg Roos M, Bovbjerg Henrik and 2 more

Sustained inhibition of ENaC in CF: Potential RNA-based therapies for mutation-agnostic treatment.

Current opinion in pharmacology | 2022-06-01 | PMID 35483215

Kota Pradeep

Follistatin-related protein 1 in asthma: miR-200b-3p interactions affect airway remodeling and inflammation phenotype.

International immunopharmacology | 2022-08-01 | PMID 35483234

Liu Fen, Zhang Jintao, Zhang Dong and 8 more

Establishment of tumor protein p53 mutation-based prognostic signatures for acute myeloid leukemia.

Current research in translational medicine | 2022-09-01 | PMID 35483237

Xie Jinye, Chen Kang, Han Hui and 2 more

Functional Characterization of Genetic Variant Effects on Expression.

Annual review of biomedical data science | 2022-08-10 | PMID 35483347

Flynn Elise D, Lappalainen Tuuli

Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.

Annual review of genomics and human genetics | 2022-08-31 | PMID 35483406

Naqvi Sahin, Hoskens Hanne, Wilke Franziska and 6 more

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.

Kidney international | 2022-09-01 | PMID 35483523

Drovandi Stefania, Lipska-Ziętkiewicz Beata S, Ozaltin Fatih and 41 more

The phenotype of HLA-binding B cells from sensitized kidney transplant recipients correlates with clinically prognostic patterns of interferon-γ production against purified HLA proteins.

Kidney international | 2022-08-01 | PMID 35483526

Burton Hannah, McLaughlin Laura, Shiu Kin Yee and 4 more

Combining phenotypic profiling and targeted RNA-Seq reveals linkages between transcriptional perturbations and chemical effects on cell morphology: Retinoic acid as an example.

Toxicology and applied pharmacology | 2022-06-01 | PMID 35483669

Nyffeler Johanna, Willis Clinton, Harris Felix R and 4 more

Adjuvant treatment in early-stage endometrial cancer: context-dependent impact of somatic CTNNB1 mutation on recurrence-free survival.

International journal of gynecological cancer : official journal of the International Gynecological Cancer Society | 2022-07-04 | PMID 35483739

Kurnit Katherine C, Fellman Bryan M, Mills Gordon B and 3 more

Computational and experimental methods for classifying variants of unknown clinical significance.

Cold Spring Harbor molecular case studies | 2022-04-01 | PMID 35483875

Spielmann Malte, Kircher Martin

Acute myeloid leukemia with an MN1-ETV6 fusion in a young child with Down syndrome.

Cold Spring Harbor molecular case studies | 2022-04-01 | PMID 35483876

Rosenzweig Jaclyn, Pillai Pallavi M, Prockop Susan and 6 more

The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.

Cold Spring Harbor molecular case studies | 2022-04-01 | PMID 35483878

Chen Wei-Liang, Pao Emily, Owens James and 5 more

Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort.

Neurology | 2022-07-19 | PMID 35483895

Poos Jackie M, MacDougall Amy, van den Berg Esther and 34 more

A complete pedigree-based graph workflow for rare candidate variant analysis.

Genome research | 2022-05-01 | PMID 35483961

Markello Charles, Huang Charles, Rodriguez Alex and 6 more

Utility of germline multi-gene panel testing in patients with endometrial cancer.

Gynecologic oncology | 2022-06-01 | PMID 35483985

Karpel Hannah C, Chern Jing-Yi, Smith J Maria and 2 more

Allelic Polymorphisms of Killer Immunoglobulin-Like Receptor Genes in Malay and Orang Asli Populations of Peninsular Malaysia.

Human immunology | 2022-07-01 | PMID 35483989

NurWaliyuddin Hanis Z A, Norazmi Mohd Nor, Zafarina Zainuddin

Strategic growth in social vertebrates.

Trends in ecology & evolution | 2022-08-01 | PMID 35484023

Buston Peter, Clutton-Brock Tim

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Neuromuscular disorders : NMD | 2022-05-01 | PMID 35484034

Kamien Benjamin, Clayton Joshua S, Lee Han-Shin and 6 more

Drug resistance and genetic transmission characteristics of HIV-1 CRF59_01B in infected patients in Guangdong Province, China.

The Journal of antimicrobial chemotherapy | 2022-06-29 | PMID 35484082

Lan Yun, Li Feng, Li Linghua and 6 more

Direct observation of DNA alterations induced by a DNA disruptor.

Scientific reports | 2022-04-28 | PMID 35484163

Ohshiro Takahito, Asai Ayumu, Konno Masamitsu and 5 more

The role of neurotrophin genes involved in the vulnerability to gambling disorder.

Scientific reports | 2022-04-28 | PMID 35484167

Solé-Morata Neus, Baenas Isabel, Etxandi Mikel and 10 more

Loss of SIRT1 inhibits hematopoietic stem cell aging and age-dependent mixed phenotype acute leukemia.

Communications biology | 2022-04-28 | PMID 35484199

Wang Zhiqiang, Zhang Chunxiao, Warden Charles David and 14 more

Gene loss and compensatory evolution promotes the emergence of morphological novelties in budding yeast.

Nature ecology & evolution | 2022-06-01 | PMID 35484218

Farkas Zoltán, Kovács Károly, Sarkadi Zsuzsa and 8 more

Apolipoprotein E potently inhibits ferroptosis by blocking ferritinophagy.

Molecular psychiatry | 2024-02-01 | PMID 35484240

Belaidi Abdel Ali, Masaldan Shashank, Southon Adam and 11 more

Allele-specific H3K9me3 and DNA methylation co-marked CpG-rich regions serve as potential imprinting control regions in pre-implantation embryo.

Nature cell biology | 2022-05-01 | PMID 35484247

Yang Hui, Bai Dandan, Li Yanhe and 6 more

The prognostic value of KRAS mutation in locally advanced rectal cancer.

International journal of colorectal disease | 2022-05-01 | PMID 35484252

Asawa Palash, Bakalov Veli, Kancharla Pragnan and 5 more

Immunogenicity and therapeutic targeting of a public neoantigen derived from mutated PIK3CA.

Nature medicine | 2022-05-01 | PMID 35484264

Chandran Smita S, Ma Jiaqi, Klatt Martin G and 19 more

Genomic selection and genetic architecture of agronomic traits during modern rapeseed breeding.

Nature genetics | 2022-05-01 | PMID 35484301

Hu Jihong, Chen Biyun, Zhao Jing and 20 more

A systems genomics approach to uncover patient-specific pathogenic pathways and proteins in ulcerative colitis.

Nature communications | 2022-04-28 | PMID 35484353

Brooks-Warburton Johanne, Modos Dezso, Sudhakar Padhmanand and 16 more

Photonics enabled intelligence system to identify SARS-CoV 2 mutations.

Applied microbiology and biotechnology | 2022-05-01 | PMID 35484414

Taha Bakr Ahmed, Al-Jubouri Qussay, Al Mashhadany Yousif and 4 more

Single nucleotide polymorphism based assessment of genetic diversity in local and exotic onion genotypes.

Molecular biology reports | 2022-06-01 | PMID 35484441

Tabussam Najma, Rana Rashid Mehmood, Wattoo Fahad Masoud and 6 more

Nutritional and genetic variation in a core set of Ethiopian Tef (Eragrostis tef) varieties.

BMC plant biology | 2022-04-28 | PMID 35484480

Ereful Nelzo C, Jones Huw, Fradgley Nick and 3 more

TCR-L: an analysis tool for evaluating the association between the T-cell receptor repertoire and clinical phenotypes.

BMC bioinformatics | 2022-04-28 | PMID 35484495

Liu Meiling, Goo Juna, Liu Yang and 4 more

Efficacy and safety of glecaprevir and pibrentasvir in Japanese patients with hepatitis C virus infection aged 75 years or older.

BMC gastroenterology | 2022-04-28 | PMID 35484503

Komaki Yuri, Ozono Yoshinori, Nakamura Kenichi and 16 more

Genetic diversity and population structure of six autochthonous pig breeds from Croatia, Serbia, and Slovenia.

Genetics, selection, evolution : GSE | 2022-04-28 | PMID 35484510

Zorc Minja, Škorput Dubravko, Gvozdanović Kristina and 12 more

Identifying pleiotropic variants and candidate genes for fertility and reproduction traits in Holstein cattle via association studies based on imputed whole-genome sequence genotypes.

BMC genomics | 2022-04-28 | PMID 35484513

Chen Shi-Yi, Schenkel Flavio S, Melo Ana L P and 5 more

Healthy lifestyle counteracts the risk effect of genetic factors on incident gout: a large population-based longitudinal study.

BMC medicine | 2022-04-29 | PMID 35484537

Zhang Yuan, Yang Rongrong, Dove Abigail and 8 more

Thoracic low grade glial neoplasm with concurrent H3 K27M and PTPN11 mutations.

Acta neuropathologica communications | 2022-04-28 | PMID 35484611

Argenziano Michael G, Furnari Julia L, Miller Michael L and 8 more

[Parkinson's disease phenotype based on age at onset in Latin American patients: a paired-based analysis].

Revista de neurologia | 2022-05-01 | PMID 35484701

Meléndez-Flores J D, Irabien-Zuñiga M, Cerda-Contreras C and 2 more

Modulation of human transthyretin stability by the mutations at histidine 88 studied by free energy simulation.

Proteins | 2022-11-01 | PMID 35484710

Lee Kyung-Hoon, Kuczera Krzysztof

Single-cell RNA Sequencing Identified Novel Nr4a1+ Ear2+ Anti-Inflammatory Macrophage Phenotype under Myeloid-TLR4 Dependent Regulation in Anti-Glomerular Basement Membrane (GBM) Crescentic Glomerulonephritis (cGN).

Advanced science (Weinheim, Baden-Wurttemberg, Germany) | 2022-06-01 | PMID 35484716

Chen Jiaoyi, Huang Xiao Ru, Yang Fuye and 4 more

Genes: TLR4

Visualized Genotyping from "Sample to Results" Within 25 Minutes by Coupling Recombinase Polymerase Amplification (RPA) With Allele-Specific Invasive Reaction Assisted Gold Nanoparticle Probes Assembling.

Journal of biomedical nanotechnology | 2022-02-01 | PMID 35484746

Zhang Likun, Ma Xueping, Liu Danni and 7 more

Recognition of the HLA-A*11:398 allele in a Chinese patient and his sister.

HLA | 2022-09-01 | PMID 35484782

Shi Xiu-Min, Li Pei-Tong, Hu Rui-Ping and 2 more

Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China.

Ophthalmic genetics | 2022-10-01 | PMID 35484844

Li Tiankun, Wu Shuangqing, Wen Yajing and 2 more

RP1-associated recessive retinitis pigmentosa caused by paternal uniparental disomy.

Ophthalmic genetics | 2022-08-01 | PMID 35484846

Bedoukian Emma C, O'Neil Erin C, Aleman Tomas S

HDAC3 single-nucleotide polymorphism rs2530223 is associated with increased susceptibility and severity of primary immune thrombocytopenia.

International journal of laboratory hematology | 2022-10-01 | PMID 35484920

Liu Yan, Wang Yin, Zhang Cheng and 5 more