Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
Human molecular genetics | 2024-05-18 | PMID 38453143
Brock Daniel C, Wang Meng, Hussain Hafiz Muhammad Jafar and 16 more
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 9399 of 10600
A multi-ancestry genome-wide association study in type 1 diabetes.
Human molecular genetics | 2024-05-18 | PMID 38453145
Michalek Dominika A, Tern Courtney, Zhou Wei and 6 more
Genes: PTPN22, ERBB3, INS, NRP1, IKZF4, IL2RA, RNLS, RPS26
Severe skeletal dysplasia caused by a novel FLNB gene mutation.
BMJ case reports | 2024-03-07 | PMID 38453218
Madan Ichchha, Jackson Frank, Sahni Simran and 1 more
Genes: FLNB
Variant ataxia telangiectasia identified during evaluation for short stature.
BMJ case reports | 2024-03-07 | PMID 38453233
Sokay Anitha, Leahy Timothy Ronan, O'Regan Mary and 1 more
Genes: ATM
The airway epithelium: an orchestrator of inflammation, a key structural barrier and a therapeutic target in severe asthma.
The European respiratory journal | 2024-04-01 | PMID 38453256
Russell Richard J, Boulet Louis-Philippe, Brightling Christopher E and 4 more
Combination of Dabrafenib and Trametinib in Patients with Metastatic BRAFV600E-Mutated Thyroid Cancer.
Cancer research and treatment | 2024-10-01 | PMID 38453274
Jeon Youngkyung, Park Sehhoon, Lee Se-Hoon and 5 more
Oncogenic mutations of KRAS modulate its turnover by the CUL3/LZTR1 E3 ligase complex.
Life science alliance | 2024-05-01 | PMID 38453365
Damianou Andreas, Liang Zhu, Lassen Frederik and 8 more
Genes: KRAS, LZTR1, APEX2, ARAF, CUL3
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort.
Journal of medical genetics | 2024-06-20 | PMID 38453479
Martin Bree E, Sands Tristan, Bier Louise and 3 more
NONDOMESTIC FELID ABC BLOOD PHENOTYPING, GENOTYPING, AND CROSSMATCHING.
Journal of zoo and wildlife medicine : official publication of the American Association of Zoo Veterinarians | 2024-03-01 | PMID 38453497
Parkinson Lily, Kuder Henrike, Kehl Alexandra and 4 more
Copper affects virulence and diverse phenotypes of uropathogenic Proteus mirabilis.
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi | 2024-06-01 | PMID 38453541
Huang Wei-Syuan, Lee Yuan-Ju, Wang Lu and 4 more
Dominance and multi-locus interaction.
Trends in genetics : TIG | 2024-04-01 | PMID 38453542
Li Juan, Bank Claudia
KMT2C and KMT2D aberrations in breast cancer.
Trends in cancer | 2024-06-01 | PMID 38453563
Tinsley Emily, Bredin Philip, Toomey Sinead and 2 more
Cardiometabolic risk stratification using a novel obesity phenotyping system based on body adiposity and waist circumference.
European journal of internal medicine | 2024-06-01 | PMID 38453570
Gómez-Ambrosi Javier, Catalán Victoria, Ramírez Beatriz and 11 more
Magnetic Resonance Imaging-based Prostate Cancer Screening in Carriers of Pathogenic Germline Mutations: Interim Results from the Initial Screening Round of the Prostate Cancer Genetic Risk Evaluation and Screening Study.
European urology oncology | 2024-12-01 | PMID 38453598
Amini Andrew E, Hunter Alexandra E, Almashad Aya and 6 more
Association between variants in TCF7L2, CTRB1/2, and GLP-1R genes and response to therapy with glucagon-like peptide-1 receptor agonists.
Postgraduate medicine | 2024-03-01 | PMID 38453649
Kyriakidou Artemis, Kyriazou Angeliki V, Koufakis Theocharis and 5 more
A peek into the population genetics of white teatfish (Holothuria fuscogilva) of Kenya's south coast.
Molecular biology reports | 2024-03-08 | PMID 38453728
Karan Diana, Fulanda Bernerd, Mkare Thomas and 1 more
Phenotypes for general behavior, activity, and body temperature in 3q29 deletion model mice.
Translational psychiatry | 2024-03-07 | PMID 38453903
Mori Daisuke, Ikeda Ryosuke, Sawahata Masahito and 22 more
Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing.
NPJ systems biology and applications | 2024-03-07 | PMID 38453965
Lynn Nicolas, Tuller Tamir
The deleterious effects of sofosbuvir and ribavirin (antiviral drugs against hepatitis C virus) on different body systems in male albino rats regarding reproductive, hematological, biochemical, hepatic, and renal profiles and histopathological changes.
Scientific reports | 2024-03-07 | PMID 38453980
Ali Rana A, Awadalla Eatemad A, Amin Yahia A and 5 more
Obesity affects brain cortex gene expression in an APOE genotype and sex dependent manner.
International journal of obesity (2005) | 2024-06-01 | PMID 38454009
Pandit Harshul, Jones Nahdia S, Rebeck G William
Loss of WIPI4 in neurodegeneration causes autophagy-independent ferroptosis.
Nature cell biology | 2024-04-01 | PMID 38454050
Zhu Ye, Fujimaki Motoki, Snape Louisa and 3 more
Functional characterization of cooperating MGA mutations in RUNX1::RUNX1T1 acute myeloid leukemia.
Leukemia | 2024-05-01 | PMID 38454121
Thomas Melvin E, Qi Wenqing, Walsh Michael P and 12 more
Genes: MGA, RUNX1, RUNX1T1, MYC
Clonal hematopoiesis of indeterminate potential is associated with acute kidney injury.
Nature medicine | 2024-03-01 | PMID 38454125
Vlasschaert Caitlyn, Robinson-Cohen Cassianne, Chen Jianchun and 28 more
Genes: DNMT3A, JAK2, TET2
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk.
Journal of human genetics | 2024-06-01 | PMID 38454133
Curtis David
Cochleovestibular Phenotype in a Rare Genetic MED13L Mutation.
The journal of international advanced otology | 2024-01-01 | PMID 38454295
Shahid Mariam, Ahmed Mohamed, Avula Shivaram and 1 more
Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.
Movement disorders clinical practice | 2024-05-01 | PMID 38454300
Ramon-Gomez Jorge Luis, Cortés-Rojas Maria Camila, Polania-Puentes Maria Jose and 1 more
Genotypic study of Chlamydia trachomatis for lymphogranuloma venereum diagnosis in rectal specimens from men who have sex with men: a cost-effectiveness analysis.
BMC infectious diseases | 2024-03-07 | PMID 38454329
Sánchez David, Ferrer Josep, Giménez Estela and 6 more
Genome-wide association studies highlight novel risk loci for septal defects and left-sided congenital heart defects.
BMC genomics | 2024-03-07 | PMID 38454350
Broberg Martin, Ampuja Minna, Jones Samuel and 7 more
Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature.
BMC pediatrics | 2024-03-07 | PMID 38454370
Duan Lifen, Ye Lei, Yin Runxiu and 6 more
Genes: CAD
GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice.
Molecular neurodegeneration | 2024-03-07 | PMID 38454456
Gregorio Ilaria, Russo Loris, Torretta Enrica and 10 more
Genes: GBA1
The frequency of kdr and ace-1 alleles in Anopheles gambiae s.l. before and during indoor residual spraying (IRS) implementation and four years after IRS withdrawal in three districts in Atacora, Benin.
Parasites & vectors | 2024-03-07 | PMID 38454494
Odjo Esdras Mahoutin, Impoinvil Daniel, Fassinou Arsène Jacques Y H and 12 more
A genome-wide study of gastric intramucosal neoplasia based on somatic copy number alterations, gene mutations, and mRNA expression patterns.
The journal of pathology. Clinical research | 2024-03-01 | PMID 38454538
Koike Yoshihiko, Osakabe Mitsumasa, Sugimoto Ryo and 5 more
Genes: HGD, TP53
Sex differences in the pleiotropy of hearing difficulty with imaging-derived phenotypes: a brain-wide investigation.
Brain : a journal of neurology | 2024-10-03 | PMID 38454550
He Jun, Cabrera-Mendoza Brenda, De Angelis Flavio and 7 more
In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice.
Molecular therapy : the journal of the American Society of Gene Therapy | 2024-05-01 | PMID 38454603
Böck Desirée, Revers Ilma M, Bomhof Anastasia S J and 8 more
Fragmentation patterns of cell-free DNA and somatic mutations in the urine of metastatic breast cancer patients.
Journal of cancer research and therapeutics | 2024-04-01 | PMID 38454812
Lin Shaoyan, Wang Shusen, Xu Binghe
Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele.
Ophthalmic genetics | 2024-08-01 | PMID 38454848
de Guimaraes Thales A C, Lai Francesco, Colombatti Raffaella and 4 more
Genes: KCNV2
Tumor DNA sampling from aqueous humor in retinoblastoma - A report from South Asia.
Indian journal of ophthalmology | 2024-07-01 | PMID 38454873
Meel Rachna, Sangwan Sushil K, Agrawal Sahil and 2 more
Genes: RB1
Genetic variation of FcγRIIa induces higher uptake of Leishmania infantum and modulates cytokine production by adherent mononuclear cells in vitro.
Frontiers in immunology | 2024-01-01 | PMID 38455048
Catarino Jonatas da Silva, de Oliveira Rafael Faria, Silva Marcos Vinicius and 7 more
Research advances in Peyronie's disease: a comprehensive review on genomics, pathways, phenotypic manifestation, and therapeutic targets.
Sexual medicine reviews | 2024-06-26 | PMID 38456235
Chi Junpeng, Bi Wenhua, Lou Keyuan and 3 more
Association of PD-L1 expression with driver gene mutations and clinicopathological characteristics in non-small cell lung cancer: A real-world study of 10 441 patients.
Thoracic cancer | 2024-04-01 | PMID 38456253
Ruiz Gonzalo, Enrico Diego, Mahmoud Yamil D and 20 more
Sequence variations in GATA4 and CITED2 gene among patients with cardiac septation defects from Xinjiang, China.
Cardiology in the young | 2024-07-01 | PMID 38456293
Imam Renati, Aizezi Maimaitiaili, Yan Fei and 2 more
Pharmacogenomic biomarkers in coronary artery disease: a narrative review.
Biomarkers in medicine | 2024-03-01 | PMID 38456296
Dua Pamila, Seth Sandeep, Prasher Bhavana and 3 more
KRAS Mutation Detection with (2S,4R)-4-[18F]FGln for Noninvasive PDAC Diagnosis.
Molecular pharmaceutics | 2024-04-01 | PMID 38456403
Liu Song, Liu Futao, Hou Xingguo and 5 more
Genes: KRAS, MIA
Characterizing the Causal Pathway From Childhood Adiposity to Right Heart Physiology and Pulmonary Circulation Using Lifecourse Mendelian Randomization.
Journal of the American Heart Association | 2024-03-19 | PMID 38456449
Leyden Genevieve M, Urquijo Helena, Hughes Alun D and 2 more
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain : a journal of neurology | 2024-08-01 | PMID 38456468
Sidpra Jai, Sudhakar Sniya, Biswas Asthik and 55 more
The incubation environment does not explain significant variation in heart rate plasticity among avian embryos.
The Journal of experimental biology | 2024-03-01 | PMID 38456553
Cones Alexandra G, Schneider Eve R, Westneat David F
Functional genomics of Brassica napus: Progresses, challenges, and perspectives.
Journal of integrative plant biology | 2024-03-01 | PMID 38456625
Tan Zengdong, Han Xu, Dai Cheng and 23 more
Mitochondrial background can explain variable costs of immune deployment.
Journal of evolutionary biology | 2024-04-14 | PMID 38456649
Kutzer Megan A M, Cornish Beth, Jamieson Michael and 3 more
Correlation between genetic alterations and clinicopathological features of papillary thyroid carcinomas.
The Journal of international medical research | 2024-03-01 | PMID 38456650
Shang Shixuan, Yang Huimin, Chen Meixiang and 7 more
Phase I/II Study of Combined BCL-xL and MEK Inhibition with Navitoclax and Trametinib in KRAS or NRAS Mutant Advanced Solid Tumors.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2024-05-01 | PMID 38456660
Corcoran Ryan B, Do Khanh T, Kim Jeong E and 28 more
Intraspecific variability of leaf form and function across habitat types.
Ecology letters | 2024-03-01 | PMID 38456670
Puglielli Giacomo, Bricca Alessandro, Chelli Stefano and 55 more
PTSD Symptoms Among College Students: Linkages with Familial Risk, Borderline Personality, and Sexual Assault.
Journal of child sexual abuse | 2024-02-01 | PMID 38456682
Tyler Kimberly A, Ray Colleen M
The Finnish Adoptive Family Study of Schizophrenia: differences in somatic diseases and conditions between adoptees with high or low genetic risk for schizophrenia spectrum disorders.
Nordic journal of psychiatry | 2024-05-01 | PMID 38456792
Karjalainen Emma, Niemelä Mika, Hakko Helinä and 2 more
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Human genetics | 2024-03-01 | PMID 38456936
Wang Hongyang, Guan Liping, Wu Xiaonan and 18 more
First report of Giardia duodenalis in dairy cattle and beef cattle in Shanxi, China.
Molecular biology reports | 2024-03-08 | PMID 38457002
Zhao Li, Wang Yan, Wang Mingyuan and 7 more
Association between gene polymorphisms and initial warfarin therapy in patients after heart valve surgery.
Pharmacological reports : PR | 2024-04-01 | PMID 38457019
Liu Zhaohui, Luo Fengming, Zhao Juan and 3 more
Effect of MAOA rs1465108 polymorphism on susceptibility to substance/alcohol use disorder: a novel PCR-RFLP assay for the detection of MAOA rs1465108.
Molecular biology reports | 2024-03-08 | PMID 38457024
Kaya-Akyüzlü Dilek, Özkan-Kotiloğlu Selin, Yıldırım Sariye Aybüke and 3 more
Initiation of Cancer: The Journey From Mutations in Somatic Cells to Epigenetic Changes in Tissue-resident VSELs.
Stem cell reviews and reports | 2024-05-01 | PMID 38457060
Bhartiya Deepa, Raouf Sherif, Pansare Kshama and 2 more
Decomposed FDG PET-based phenotypic heterogeneity predicting clinical prognosis and decision-making in temporal lobe epilepsy patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2024-08-01 | PMID 38457084
Guo Kun, Quan Zhiyong, Li Guiyu and 3 more
Investigating the Shared Genetic Etiology Between Parkinson's Disease and Depression.
Journal of Parkinson's disease | 2024-01-01 | PMID 38457145
Reyes-Pérez Paula, García-Marín Luis M, Aman Asma M and 5 more
Phenome-wide association study of ovarian cancer identifies common comorbidities and reveals shared genetics with complex diseases and biomarkers.
Cancer medicine | 2024-02-01 | PMID 38457211
Mulugeta Anwar, Lumsden Amanda L, Madakkatel Iqbal and 5 more
Clinical utility of the Oncomine Dx Target Test multi-CDx system and the possibility of utilizing those original sequence data.
Cancer medicine | 2024-02-01 | PMID 38457233
Saito Ayaka, Terai Hideki, Kim Tae-Jung and 20 more
Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3T31A and ARL3T31A/C118F mutations.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 2024-03-15 | PMID 38457249
Zhang Xiaoli, Yao Shun, Zhang Lujia and 7 more
Genes: ARL3, IQUB, GRIP1, NPM2, RAB3IP, SLC38A4, UNC13D
Enteric viruses other than rotavirus and norovirus in children under 5 years of age with gastroenteritis in Argentina, 2010-2021. A descriptive study.
Archivos argentinos de pediatria | 2024-08-01 | PMID 38457266
Degiuseppe Juan I, Soto María T, Barrios Mathieur Christian and 2 more
Disease-causing Slack potassium channel mutations produce opposite effects on excitability of excitatory and inhibitory neurons.
Cell reports | 2024-03-26 | PMID 38457342
Wu Jing, Quraishi Imran H, Zhang Yalan and 2 more
Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Blood | 2024-05-30 | PMID 38457357
Bernabéu-Herrero Maria E, Patel Dilipkumar, Bielowka Adrianna and 10 more
Long-read sequencing for fast and robust identification of correct genome-edited alleles: PCR-based and Cas9 capture methods.
PLoS genetics | 2024-03-01 | PMID 38457464
McCabe Christopher V, Price Peter D, Codner Gemma F and 17 more
Legacy of a magic gene-CCR5-∆32: From discovery to clinical benefit in a generation.
Proceedings of the National Academy of Sciences of the United States of America | 2024-03-19 | PMID 38457490
OBrien Stephen J
Molecular basis of JAK2 activation in erythropoietin receptor and pathogenic JAK2 signaling.
Science advances | 2024-03-08 | PMID 38457493
Abraham Bobin George, Haikarainen Teemu, Vuorio Joni and 8 more
Proteostatic tuning underpins the evolution of novel multicellular traits.
Science advances | 2024-03-08 | PMID 38457507
Montrose Kristopher, Lac Dung T, Burnetti Anthony J and 5 more
Late-stage modification of complex drug: Base-controlled Pd-catalyzed regioselective synthesis and bioactivity of arylated osimertinibs.
Science advances | 2024-03-08 | PMID 38457511
Feng Rui, Zhen Yong-Qi, Wu Dongbo and 5 more
Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.
Medicine | 2024-03-08 | PMID 38457557
Li Xian, Fan Jiaojiao, Fu Rong and 5 more
Prevalence of FRAC Group 11 Fungicide Resistance in Stemphylium vesicarium Isolates, but Not S. beticola Isolates, Causing Stemphylium Leaf Spot of Spinach (Spinacia oleracea).
Plant disease | 2024-07-01 | PMID 38457632
Spawton Kayla A, du Toit Lindsey J
IDH-mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation.
Blood | 2024-05-02 | PMID 38457663
Hong Lih En, Wechalekar Mihir D, Kutyna Monika and 21 more
Evo-Devo in Ophiuroids: The Switch from Planktotrophy to Lecithotrophy in Ophionereis.
The Biological bulletin | 2023-06-01 | PMID 38457674
Selvakumaraswamy Paulina, Byrne Maria
Using Tumor Marker Gene Variants to Improve the Diagnostic Accuracy of DUPAN-2 and Carbohydrate Antigen 19-9 for Pancreatic Cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2024-06-20 | PMID 38457748
Ando Yohei, Dbouk Mohamad, Yoshida Takeichi and 13 more
Genes: FUT3, FUT2, CAPS
Prognostic Value of Fibroblast Growth Factor Receptor Genetic Alterations in Metastatic Urothelial Carcinoma.
Clinical genitourinary cancer | 2024-06-01 | PMID 38457853
Fleming Sarah, Gifkins Dina, Resnick Helaine E and 8 more
Drug-drug conjugates of MEK and Akt inhibitors for RAS-mutant cancers.
Bioorganic & medicinal chemistry | 2024-03-15 | PMID 38457912
Fujita Hikaru, Arai Sachiko, Arakawa Hiroshi and 13 more
Integrating high-throughput phenotypic profiling and transcriptomic analyses to predict the hepatosteatosis effects induced by per- and polyfluoroalkyl substances.
Journal of hazardous materials | 2024-05-05 | PMID 38457971
Luo Yu-Syuan, Ying Ren-Yan, Chen Xsuan-Ting and 3 more
Genome-wide association studies of anserine and carnosine contents in the breast meat of Korean native chickens.
Poultry science | 2024-05-01 | PMID 38457991
Kim Minjun, Munyaneza Jean P, Cho Eunjin and 5 more
Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene.
Stem cell research | 2024-04-01 | PMID 38458030
Ou-Yang Chih-Hsin, Chen Pin-Shiuan, Lin Chin-Hsien
Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines.
Stem cell research | 2024-04-01 | PMID 38458031
Ferreira Lucas G A, Cabral-da-Silva Mauricio C, Pachernegg Svenja and 8 more
Identifying the genetic association between systemic lupus erythematosus and the risk of autoimmune liver diseases.
Journal of autoimmunity | 2024-05-01 | PMID 38458076
Huang Wei, Jin Tianyu, Zheng Wei and 4 more
Diabetes status, genetic susceptibility, and incident arrhythmias: A prospective cohort study of 457,151 participants.
Diabetes & metabolic syndrome | 2024-03-01 | PMID 38458077
Dai Lei, Zuo Yuyue, Lv Yanling and 2 more
ARID1A orchestrates SWI/SNF-mediated sequential binding of transcription factors with ARID1A loss driving pre-memory B cell fate and lymphomagenesis.
Cancer cell | 2024-04-08 | PMID 38458187
Barisic Darko, Chin Christopher R, Meydan Cem and 21 more
Genes: ARID1A, GC, BCL2, CD40, CD80, SMARCA2
An Updated Overview of Risk Factors for Shoulder Stiffness.
Zeitschrift fur Orthopadie und Unfallchirurgie | 2024-12-01 | PMID 38458225
van Hattem Suncana, Regener Eva-Maria, Prangenberg Christian and 5 more
Multi-strategy orthogonal enhancement and analysis of aldo-keto reductase thermal stability.
International journal of biological macromolecules | 2024-04-01 | PMID 38458293
Zhang Lingzhi, Zhou Rui, Liu Dekai and 5 more
Genetic diversity of the entomopathogenic fungus Metarhizium rileyi based on de novo microsatellite markers.
Journal of invertebrate pathology | 2024-06-01 | PMID 38458349
de Souza Tamires Doroteo, de Godoy Sara Mataroli, Feliciano Daniele C and 3 more
Trajectories of social isolation and loneliness and the risk of incident type 2 diabetes mellitus across genetic risk score.
Diabetes & metabolism | 2024-05-01 | PMID 38458351
Chen Yilin, Xue Huachen, Ai Sizhi and 5 more
MVAR: A Mouse Variation Registry.
Journal of molecular biology | 2024-09-01 | PMID 38458603
El Kassaby Bahá, Castellanos Francisco, Gerring Matthew and 2 more
Diverse ALS mutations and cross-and multiple-resistance to ALS and EPSPS inhibitors in flucarbazone‑sodium-resistant Bromus japonicus populations from Hebei province, China.
Pesticide biochemistry and physiology | 2024-02-01 | PMID 38458688
Xu Xian, Zhao Bochui, Li Binghua and 7 more
PHOX2B: a diagnostic cornerstone in neurocristopathies and neuroblastomas.
Journal of clinical pathology | 2024-05-17 | PMID 38458747
Windels Mei-Lan, Cordier Fleur, Van Dorpe Jo and 2 more
PNPLA3 fatty liver allele was fixed in Neanderthals and segregates neutrally in humans.
Gut | 2024-05-10 | PMID 38458749
Geier Andreas, Trost Jonas, Wang Ke and 3 more
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Journal of medical genetics | 2024-06-20 | PMID 38458752
Smith Claire E L, Laugel-Haushalter Virginie, Hany Ummey and 15 more
Genes: PLXNB2, PLXNA1, PLXND1
Cerebral visual impairment: genetic diagnoses and phenotypic associations.
Journal of medical genetics | 2024-05-21 | PMID 38458753
Shaw Emogene, Flitcroft Ian, Bowman Richard and 1 more
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
Journal of medical genetics | 2024-04-19 | PMID 38458754
Atasu Burcu, Simón-Sánchez Javier, Hanagasi Hasmet and 6 more
Genes: ALDH5A1, AOPEP, CACNA1A, GCH1, HPCA, KMT2B, PCCB, PRKN
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
Journal of medical genetics | 2024-04-19 | PMID 38458756
Arnaud Pauline, Mougin Zakaria, Baujat Genevieve and 8 more
Genes: FBN1
Association of genetic variation on X chromosome with systemic lupus erythematosus in both Thai and Chinese populations.
Lupus science & medicine | 2024-03-08 | PMID 38458775
Tangtanatakul Pattarin, Lei Yao, Jaiwan Krisana and 13 more
Genes: TMEM187, GPR173, IRAK1, MECP2, PRPS2, TLR7
Upper Gastrointestinal Cancers and the Role of Genetic Testing.
Hematology/oncology clinics of North America | 2024-06-01 | PMID 38458854
Harrold Emily C, Stadler Zsofia K
Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.
European urology oncology | 2024-04-01 | PMID 38458890
Saunders Edward J, Dadaev Tokhir, Brook Mark N and 14 more