Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.
Human genetics | 2019-04-01 | PMID 30820706
Bien Stephanie A, Su Yu-Ru, Conti David V and 75 more
Genes: CXCR1, CXCR2, PYGL, TRIM4
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 7912 of 10600
Motor Performances of Spontaneous and Genetically Modified Mutants with Cerebellar Atrophy.
Cerebellum (London, England) | 2019-06-01 | PMID 30820866
Lalonde Robert, Strazielle Catherine
Generality of genomic findings on blood pressure traits and its usefulness in precision medicine in diverse populations: A systematic review.
Clinical genetics | 2019-07-01 | PMID 30820929
Kolifarhood Goodarz, Daneshpour Maryam S, Khayat Bahareh S and 5 more
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing.
Genome biology | 2019-03-01 | PMID 30823901
Cheng Jun, Nguyen Thi Yen Duong, Cygan Kamil J and 4 more
Single-Cell RNA-Seq Reveals AML Hierarchies Relevant to Disease Progression and Immunity.
Cell | 2019-03-07 | PMID 30827681
van Galen Peter, Hovestadt Volker, Wadsworth Ii Marc H and 16 more
Genes: FLT3
Female-restricted syndromic intellectual disability in a patient from Thailand.
American journal of medical genetics. Part A | 2019-05-01 | PMID 30828969
Sinthuwiwat Thivaratana, Ittiwut Chupong, Porntaveetus Thantrira and 1 more
Genes: USP9X
Lipid phenotyping of lung epithelial lining fluid in healthy human volunteers.
Metabolomics : Official journal of the Metabolomic Society | 2018-09-17 | PMID 30830396
Brandsma Joost, Goss Victoria M, Yang Xian and 20 more
Genetic determinants of paediatric food allergy: A systematic review.
Allergy | 2019-09-01 | PMID 30835860
Suaini Noor H A, Wang Yichao, Soriano Victoria X and 4 more
Genes: FLG, IL13, IL10, SPINK5
Furin, a transcriptional target of NKX2-5, has an essential role in heart development and function.
PloS one | 2019-01-01 | PMID 30840660
Dupays Laurent, Towers Norma, Wood Sophie and 3 more
FBXO7 sensitivity of phenotypic traits elucidated by a hypomorphic allele.
PloS one | 2019-01-01 | PMID 30840666
Ballesteros Reviriego Carmen, Clare Simon, Arends Mark J and 15 more
Genes: FBXO7
NAA10 polyadenylation signal variants cause syndromic microphthalmia.
Journal of medical genetics | 2019-07-01 | PMID 30842225
Johnston Jennifer J, Williamson Kathleen A, Chou Christopher M and 16 more
Genes: NAA10
Filigree-like Rete Ridges, Lobulated Nests, Rosette-like Structures, and Exaggerated Maturation Characterize Spitz Tumors With NTRK1 Fusion.
The American journal of surgical pathology | 2019-06-01 | PMID 30844834
Yeh Iwei, Busam Klaus J, McCalmont Timothy H and 5 more
Genes: NTRK1
No Support for Historical Candidate Gene or Candidate Gene-by-Interaction Hypotheses for Major Depression Across Multiple Large Samples.
The American journal of psychiatry | 2019-05-01 | PMID 30845820
Border Richard, Johnson Emma C, Evans Luke M and 4 more
Histone deacetylase inhibition in combination with MEK or BCL-2 inhibition in multiple myeloma.
Haematologica | 2019-10-01 | PMID 30846494
Ramakrishnan Vijay G, Miller Kevin C, Macon Elaine P and 6 more
Genes: BAX
Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy.
Scientific reports | 2019-03-07 | PMID 30846767
Toms Maria, Burgoyne Thomas, Tracey-White Dhani and 5 more
Genes: KCNJ13, RPE
In-host evolution of Staphylococcus epidermidis in a pacemaker-associated endocarditis resulting in increased antibiotic tolerance.
Nature communications | 2019-03-08 | PMID 30850614
Dengler Haunreiter Vanina, Boumasmoud Mathilde, Häffner Nicola and 9 more
A Prediction Model for Preoperative Risk Assessment in Endometrial Cancer Utilizing Clinical and Molecular Variables.
International journal of molecular sciences | 2019-03-09 | PMID 30857319
Salinas Erin A, Miller Marina D, Newtson Andreea M and 10 more
Fine-Tuning of σE Activation Suppresses Multiple Assembly-Defective Mutations in Escherichia coli.
Journal of bacteriology | 2019-06-01 | PMID 30858299
Hart Elizabeth M, O'Connell Aileen, Tang Kimberly and 4 more
Genes: OMP
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Brain : a journal of neurology | 2019-04-01 | PMID 30859180
Mishra Aniket, Chauhan Ganesh, Violleau Marie-Helene and 31 more
Genes: HTRA1, NOTCH3, COL4A1, COL4A2, TREX1
Why does the zebrafish cloche mutant develop lens cataract?
PloS one | 2019-01-01 | PMID 30861003
Posner Mason, McDonald Matthew S, Murray Kelly L and 1 more
AtrR Is an Essential Determinant of Azole Resistance in Aspergillus fumigatus.
mBio | 2019-03-12 | PMID 30862750
Paul Sanjoy, Stamnes Mark, Thomas Grace Heredge and 5 more
Autoimmune genetic risk variants as germline biomarkers of response to melanoma immune-checkpoint inhibition.
Cancer immunology, immunotherapy : CII | 2019-06-01 | PMID 30863922
Chat Vylyny, Ferguson Robert, Simpson Danny and 12 more
Genes: IL2, IL21
Induction of cardiomyocyte‑like cells from hair follicle cells in mice.
International journal of molecular medicine | 2019-05-01 | PMID 30864673
Kim Yong-Hee, Kim Bang-Jin, Kim Seok-Man and 2 more
Morphospace exploration reveals divergent fitness optima between plants and pollinators.
PloS one | 2019-01-01 | PMID 30865672
Peng Foen, Campos Eric O, Sullivan Joseph Garret and 4 more
Chemosensitivity of Phox2b-expressing retrotrapezoid neurons is mediated in part by input from 5-HT neurons.
The Journal of physiology | 2019-05-01 | PMID 30866045
Wu Yuanming, Proch Katherine L, Teran Frida A and 3 more
Molecular Characterization of Non-responders to Chemotherapy in Serous Ovarian Cancer.
International journal of molecular sciences | 2019-03-07 | PMID 30866519
McDonald Megan E, Salinas Erin A, Devor Eric J and 7 more
Genes: TP53, MUC17
Follicular lymphoma patients with KIR2DL2 and KIR3DL1 and their ligands (HLA-C1 and HLA-Bw4) show improved outcome when receiving rituximab.
Journal for immunotherapy of cancer | 2019-03-12 | PMID 30871628
Erbe Amy K, Wang Wei, Carmichael Lakeesha and 17 more
Genes: KIR2DL2, KIR3DL1
The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln).
Journal of vascular surgery | 2019-09-01 | PMID 30871887
Shalhub Sherene, Regalado Ellen S, Guo Dong-Chuan and 1 more
Genes: PRKG1
A Diallel of the Mouse Collaborative Cross Founders Reveals Strong Strain-Specific Maternal Effects on Litter Size.
G3 (Bethesda, Md.) | 2019-05-07 | PMID 30877080
Shorter John R, Maurizio Paul L, Bell Timothy A and 7 more
Genes: CAST
Olaparib and α-specific PI3K inhibitor alpelisib for patients with epithelial ovarian cancer: a dose-escalation and dose-expansion phase 1b trial.
The Lancet. Oncology | 2019-04-01 | PMID 30880072
Konstantinopoulos Panagiotis A, Barry William T, Birrer Michael and 25 more
Building the Framework for Standardized Clinical Laboratory Reporting of Next-generation Sequencing Data for Resistance-associated Mutations in Mycobacterium tuberculosis Complex.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America | 2019-10-15 | PMID 30883637
Tornheim Jeffrey A, Starks Angela M, Rodwell Timothy C and 7 more
Genes: DST
Parkinson's Disease is Associated with Dysregulations of a Dopamine-Modulated Gene Network Relevant to Sleep and Affective Neurobehaviors in the Striatum.
Scientific reports | 2019-03-18 | PMID 30886221
Jiang Peng, Scarpa Joseph R, Gao Vance D and 3 more
Genes: CDK1, F2
Shared mechanisms between coronary heart disease and depression: findings from a large UK general population-based cohort.
Molecular psychiatry | 2020-07-01 | PMID 30886334
Khandaker Golam M, Zuber Verena, Rees Jessica M B and 6 more
Genes: CRP
Antigenic drift originating from changes to the lateral surface of the neuraminidase head of influenza A virus.
Nature microbiology | 2019-06-01 | PMID 30886361
Yasuhara Atsuhiro, Yamayoshi Seiya, Kiso Maki and 7 more
The molecular, cellular and pathophysiological roles of iRhom pseudoproteases.
Open biology | 2019-03-29 | PMID 30890028
Dulloo Iqbal, Muliyil Sonia, Freeman Matthew
Genes: ADAM17
The Familial dementia gene ITM2b/BRI2 facilitates glutamate transmission via both presynaptic and postsynaptic mechanisms.
Scientific reports | 2019-03-19 | PMID 30890756
Yao Wen, Yin Tao, Tambini Marc D and 1 more
Genes: CA1, CA3
The prevalence and antifolate drug resistance profiles of Plasmodium falciparum in study participants randomized to discontinue or continue cotrimoxazole prophylaxis.
PLoS neglected tropical diseases | 2019-03-01 | PMID 30897090
Juma Dennis W, Muiruri Peninah, Yuhas Krista and 6 more
Chronic Pancreatitis: Pediatric and Adult Cohorts Show Similarities in Disease Progress Despite Different Risk Factors.
Journal of pediatric gastroenterology and nutrition | 2019-04-01 | PMID 30897605
Schwarzenberg Sarah J, Uc Aliye, Zimmerman Bridget and 50 more
Genes: CP
The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer's disease.
Molecular psychiatry | 2021-02-01 | PMID 30899092
Franzmeier Nicolai, Ren Jinyi, Damm Alexander and 65 more
Estrogenic activity, race/ethnicity, and Indigenous American ancestry among San Francisco Bay Area women.
PloS one | 2019-01-01 | PMID 30908519
Sanchez Sylvia S, Tachachartvanich Phum, Stanczyk Frank Z and 4 more
Blood cytokine patterns suggest a modest inflammation phenotype in subjects with long-chain fatty acid oxidation disorders.
Physiological reports | 2019-03-01 | PMID 30912279
McCoin Colin S, Gillingham Melanie B, Knotts Trina A and 5 more
Genes: CPT2
Tumorigenesis as the Paradigm of Quasi-neutral Molecular Evolution.
Molecular biology and evolution | 2019-07-01 | PMID 30912799
Chen Bingjie, Shi Zongkun, Chen Qingjian and 4 more
Evidence for Faster X Chromosome Evolution in Spiders.
Molecular biology and evolution | 2019-06-01 | PMID 30912801
Bechsgaard Jesper, Schou Mads Fristrup, Vanthournout Bram and 5 more
Hypophosphatasia: Canadian update on diagnosis and management.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA | 2019-09-01 | PMID 30915507
Khan A A, Josse R, Kannu P and 4 more
Genes: ALPL
OPENMENDEL: a cooperative programming project for statistical genetics.
Human genetics | 2020-01-01 | PMID 30915546
Zhou Hua, Sinsheimer Janet S, Bates Douglas M and 12 more
Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.
British journal of anaesthesia | 2019-05-01 | PMID 30916033
Chang Leon, Daly Catherine, Miller Dorota M and 4 more
Characterizing the Manifest Probability Distributions of Three Latent Trait Models for Accuracy and Response Time.
Psychometrika | 2019-09-01 | PMID 30919229
Marsman M, Sigurdardóttir H, Bolsinova M and 1 more
Limited differentiation among Plasmodium vivax populations from the northwest and to the south Pacific Coast of Colombia: A malaria corridor?
PLoS neglected tropical diseases | 2019-03-01 | PMID 30921317
Pacheco M Andreína, Schneider Kristan A, Céspedes Nora and 3 more
Review: Precision medicine and driver mutations: Computational methods, functional assays and conformational principles for interpreting cancer drivers.
PLoS computational biology | 2019-03-01 | PMID 30921324
Nussinov Ruth, Jang Hyunbum, Tsai Chung-Jung and 1 more
Next-Generation Sequencing of Tissue and Circulating Tumor DNA: The UC San Diego Moores Center for Personalized Cancer Therapy Experience with Breast Malignancies.
Molecular cancer therapeutics | 2019-05-01 | PMID 30926636
Shatsky Rebecca, Parker Barbara A, Bui Nam Q and 4 more
Genes: PIK3CA, TP53, EGFR, ERBB2
BRD7 deficiency leads to the development of obesity and hyperglycemia.
Scientific reports | 2019-03-29 | PMID 30926848
Lee Junsik M, Kim Yoo, Salazar Hernández Mario Andrés and 3 more
Genes: BRD7
Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
Nature genetics | 2019-04-01 | PMID 30926973
Bentley Amy R, Sung Yun J, Brown Michael R and 298 more
[Research progress of single-nucleotide polymorphism in theTM6SF2 rs58542926].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology | 2019-03-20 | PMID 30929342
Li Y, Sun X, Zhan S H and 3 more
Genes: TM6SF2
Impact of Treatment Modality on Vascular Function in Coarctation of the Aorta: The LOVE - COARCT Study.
Journal of the American Heart Association | 2019-04-02 | PMID 30929556
Martins José D, Zachariah Justin, Selamet Tierney Elif Seda and 14 more
Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.
Amyotrophic lateral sclerosis & frontotemporal degeneration | 2019-05-01 | PMID 30931630
Klepek Holly, Nagaraja Haikady, Goutman Stephen A and 3 more
Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.
Psychiatric genetics | 2019-12-01 | PMID 30933046
Demily Caroline, Duwime Charlyne, Lopez Clémence and 12 more
Genes: ARID1B
Cellular energetics and mitochondrial uncoupling in canine aging.
GeroScience | 2019-04-01 | PMID 30937823
Nicholatos Justin W, Robinette Timothy M, Tata Saurabh V P and 14 more
Genome-Wide Association Study of Susceptibility Loci for T-Cell Acute Lymphoblastic Leukemia in Children.
Journal of the National Cancer Institute | 2019-12-01 | PMID 30938820
Qian Maoxiang, Zhao Xujie, Devidas Meenakshi and 25 more
Genes: USP7, TAL1
Insertional mutagenesis using the Sleeping Beauty transposon system identifies drivers of erythroleukemia in mice.
Scientific reports | 2019-04-02 | PMID 30940846
Loeb Keith R, Hughes Bridget T, Fissel Brian M and 7 more
Maladaptive behaviors in individuals with Angelman syndrome.
American journal of medical genetics. Part A | 2019-06-01 | PMID 30942555
Sadhwani Anjali, Willen Jennifer M, LaVallee Nicole and 9 more
Rational design and in vivo selection of SHIVs encoding transmitted/founder subtype C HIV-1 envelopes.
PLoS pathogens | 2019-04-01 | PMID 30943274
O'Brien Sean P, Swanstrom Adrienne E, Pegu Amarendra and 19 more
Serum ferritin, an early marker of cardiovascular risk: a study in Chinese men of first-degree relatives with family history of type 2 diabetes.
BMC cardiovascular disorders | 2019-04-03 | PMID 30943893
Liu Jun-Ru, Liu Yang, Yin Fu-Zai and 1 more
Genes: DBP
Ca2+-dependent regulation of sodium channels NaV1.4 and NaV1.5 is controlled by the post-IQ motif.
Nature communications | 2019-04-03 | PMID 30944319
Yoder Jesse B, Ben-Johny Manu, Farinelli Federica and 5 more
Dissection of Leaf Angle Variation in Maize through Genetic Mapping and Meta-Analysis.
The plant genome | 2019-03-01 | PMID 30951086
Dzievit Matthew J, Li Xianran, Yu Jianming
Genetic Loci Associated with Salt Tolerance in Advanced Breeding Populations of Tetraploid Alfalfa Using Genome-Wide Association Studies.
The plant genome | 2019-03-01 | PMID 30951087
Liu Xiang-Ping, Hawkins Charles, Peel Michael D and 1 more
Genome-Wide Association and Genomic Prediction Models of Tocochromanols in Fresh Sweet Corn Kernels.
The plant genome | 2019-03-01 | PMID 30951088
Baseggio Matheus, Murray Matthew, Magallanes-Lundback Maria and 7 more
An Integrated Genotyping-by-Sequencing Polymorphism Map for Over 10,000 Sorghum Genotypes.
The plant genome | 2019-03-01 | PMID 30951089
Hu Zhenbin, Olatoye Marcus O, Marla Sandeep and 1 more
Evaluation of RR-BLUP Genomic Selection Models that Incorporate Peak Genome-Wide Association Study Signals in Maize and Sorghum.
The plant genome | 2019-03-01 | PMID 30951091
Rice Brian, Lipka Alexander E
Association Analysis of Three Diverse Rice (Oryza sativa L.) Germplasm Collections for Loci Regulating Grain Quality Traits.
The plant genome | 2019-03-01 | PMID 30951092
Huggins Trevis D, Chen Ming-Hsuan, Fjellstrom Robert G and 3 more
Validation of Yield Component Traits Identified by Genome-Wide Association Mapping in a tropical japonica × tropical japonica Rice Biparental Mapping Population.
The plant genome | 2019-03-01 | PMID 30951093
Eizenga Georgia C, Jia Melissa H, Jackson Aaron K and 6 more
Machine Learning as an Effective Method for Identifying True Single Nucleotide Polymorphisms in Polyploid Plants.
The plant genome | 2019-03-01 | PMID 30951095
Korani Walid, Clevenger Josh P, Chu Ye and 1 more
Predicted Genetic Gains from Targeted Recombination in Elite Biparental Maize Populations.
The plant genome | 2019-03-01 | PMID 30951097
Brandariz Sofía P, Bernardo Rex
Genomic Prediction using Existing Historical Data Contributing to Selection in Biparental Populations: A Study of Kernel Oil in Maize.
The plant genome | 2019-03-01 | PMID 30951098
Hao Yangfan, Wang Hongwu, Yang Xiaohong and 7 more
Sequencing-Based Bin Map Construction of a Tomato Mapping Population, Facilitating High-Resolution Quantitative Trait Loci Detection.
The plant genome | 2019-03-01 | PMID 30951101
Gonda Itay, Ashrafi Hamid, Lyon David A and 13 more
Stability Analysis of Kernel Quality Traits in Exotic-Derived Doubled Haploid Maize Lines.
The plant genome | 2019-03-01 | PMID 30951103
Vanous Adam, Gardner Candice, Blanco Michael and 8 more
Design and characterization of an 87k SNP genotyping array for Arctic charr (Salvelinus alpinus).
PloS one | 2019-01-01 | PMID 30951561
Nugent Cameron M, Leong Jong S, Christensen Kris A and 9 more
Defining UHRF1 Domains that Support Maintenance of Human Colon Cancer DNA Methylation and Oncogenic Properties.
Cancer cell | 2019-04-15 | PMID 30956060
Kong Xiangqian, Chen Jie, Xie Wenbing and 15 more
Genes: UHRF1
Brain Region-Specific Gene Signatures Revealed by Distinct Astrocyte Subpopulations Unveil Links to Glioma and Neurodegenerative Diseases.
eNeuro | 2019-01-01 | PMID 30957015
Cuevas-Diaz Duran Raquel, Wang Chih-Yen, Zheng Hui and 2 more
Unsupervised discovery of phenotype-specific multi-omics networks.
Bioinformatics (Oxford, England) | 2019-11-01 | PMID 30957844
Shi W Jenny, Zhuang Yonghua, Russell Pamela H and 8 more
Influence of the PLGA/gelatin ratio on the physical, chemical and biological properties of electrospun scaffolds for wound dressings.
Biomedical materials (Bristol, England) | 2019-05-03 | PMID 30959495
Vázquez Nadia, Sánchez-Arévalo Francisco, Maciel-Cerda Alfredo and 8 more
Implementation of genotype-guided dosing of warfarin with point-of-care genetic testing in three UK clinics: a matched cohort study.
BMC medicine | 2019-04-08 | PMID 30961588
Jorgensen Andrea L, Prince Clare, Fitzgerald Gail and 6 more
Genetics and the geography of health, behaviour and attainment.
Nature human behaviour | 2019-06-01 | PMID 30962612
Belsky Daniel W, Caspi Avshalom, Arseneault Louise and 11 more
Linguistic markers of autism in girls: evidence of a "blended phenotype" during storytelling.
Molecular autism | 2019-01-01 | PMID 30962869
Boorse Jaclin, Cola Meredith, Plate Samantha and 4 more
Efficient allelic-drive in Drosophila.
Nature communications | 2019-04-09 | PMID 30967548
Guichard Annabel, Haque Tisha, Bobik Marketta and 7 more
Arf6, JIP3, and dynein shape and mediate macropinocytosis.
Molecular biology of the cell | 2019-06-01 | PMID 30969891
Williamson Chad D, Donaldson Julie G
Small Molecule KRAS Agonist for Mutant KRAS Cancer Therapy.
Molecular cancer | 2019-04-10 | PMID 30971271
Xu Ke, Park Dongkyoo, Magis Andrew T and 6 more
Genes: KRAS
Inhibition of mitochondrial respiration prevents BRAF-mutant melanoma brain metastasis.
Acta neuropathologica communications | 2019-04-10 | PMID 30971321
Sundstrøm Terje, Prestegarden Lars, Azuaje Francisco and 19 more
Genes: BRAF
Catalytic-independent neuroprotection by SIRT1 is mediated through interaction with HDAC1.
PloS one | 2019-01-01 | PMID 30973934
Pfister Jason A, Ma Chi, D'Mello Santosh R
Genes: SIRT1, HDAC1
Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion.
Molecular psychiatry | 2021-03-01 | PMID 30976085
Rutkowski Timothy P, Purcell Ryan H, Pollak Rebecca M and 11 more
Genes: DLG1
Chemokine receptor 3 is a negative regulator of trabecular bone mass in female mice.
Journal of cellular biochemistry | 2019-08-01 | PMID 30977156
Mohan Subburaman, Hu Yan, Edderkaoui Bouchra
Genes: CCR3
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Human mutation | 2019-08-01 | PMID 30977563
Wan Aliete, Place Emily, Pierce Eric A and 1 more
Genes: RHO
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
JAMA network open | 2019-04-05 | PMID 30977854
Balciuniene Jorune, DeChene Elizabeth T, Akgumus Gozde and 11 more
Genes: ATP1A2, ATP1A3, CACNA1A, DEPDC5, GABRA1, IQSEC2, KCNQ2, KCNT1
Quantitative imaging of gene-expressing liposomes reveals rare favorable phenotypes.
Physical biology | 2019-04-12 | PMID 30978176
Blanken Duco, van Nies Pauline, Danelon Christophe
Integration of heterogeneous functional genomics data in gerontology research to find genes and pathway underlying aging across species.
PloS one | 2019-01-01 | PMID 30978202
Bubier Jason A, Sutphin George L, Reynolds Timothy J and 5 more
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
European journal of human genetics : EJHG | 2019-09-01 | PMID 30979967
Schmitz-Abe Klaus, Li Qifei, Rosen Samantha M and 13 more
Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.
Molecular psychiatry | 2020-11-01 | PMID 30980041
Arber Charles, Toombs Jamie, Lovejoy Christopher and 13 more
Genes: APP, PSEN1
Computational algorithms for in silico profiling of activating mutations in cancer.
Cellular and molecular life sciences : CMLS | 2019-07-01 | PMID 30982079
Jordan E Joseph, Patil Keshav, Suresh Krishna and 4 more
Genes: ALK, BRAF
Intracellular pH dynamics and charge-changing somatic mutations in cancer.
Cancer metastasis reviews | 2019-06-01 | PMID 30982102
White Katharine A, Kisor Kyle, Barber Diane L
Organic Anion Transporter Polypeptide 1B1 Polymorphism Modulates the Extent of Drug-Drug Interaction and Associated Biomarker Levels in Healthy Volunteers.
Clinical and translational science | 2019-07-01 | PMID 30982223
Yee Sook Wah, Giacomini Marilyn M, Shen Hong and 6 more
Genes: CP, SLCO1B1
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
American journal of human genetics | 2019-05-02 | PMID 30982609
Guo Long, Bertola Débora Romeo, Takanohashi Asako and 35 more
Genes: CSF1R