2023
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Peña L, Burrage L, Enns G, Esplin E, Harding C, Mendell J, Niu Z, Scharfe C, Yu T, Koeberl D, Committee A. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2023, 25: 100831. PMID: 37031408, PMCID: PMC11040261, DOI: 10.1016/j.gim.2023.100831.Peer-Reviewed Original Research
2020
Principles guiding the development of clinical practice guidelines for medical genetics and genomics specialty
Huang T, Li P. Principles guiding the development of clinical practice guidelines for medical genetics and genomics specialty. 中华医学遗传学杂志 2020, 37: 219-225. PMID: 32128736, DOI: 10.3760/cma.j.issn.1003-9406.2020.03.001.Peer-Reviewed Original Research
2019
Genetic education and practice considerations of non-genetic providers.
Giri V. Genetic education and practice considerations of non-genetic providers. Canadian Journal Of Urology 2019, 26: 44-45. PMID: 31629430.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsGenetic analyses of diverse populations improves discovery for complex traits
Wojcik G, Graff M, Nishimura K, Tao R, Haessler J, Gignoux C, Highland H, Patel Y, Sorokin E, Avery C, Belbin G, Bien S, Cheng I, Cullina S, Hodonsky C, Hu Y, Huckins L, Jeff J, Justice A, Kocarnik J, Lim U, Lin B, Lu Y, Nelson S, Park S, Poisner H, Preuss M, Richard M, Schurmann C, Setiawan V, Sockell A, Vahi K, Verbanck M, Vishnu A, Walker R, Young K, Zubair N, Acuña-Alonso V, Ambite J, Barnes K, Boerwinkle E, Bottinger E, Bustamante C, Caberto C, Canizales-Quinteros S, Conomos M, Deelman E, Do R, Doheny K, Fernández-Rhodes L, Fornage M, Hailu B, Heiss G, Henn B, Hindorff L, Jackson R, Laurie C, Laurie C, Li Y, Lin D, Moreno-Estrada A, Nadkarni G, Norman P, Pooler L, Reiner A, Romm J, Sabatti C, Sandoval K, Sheng X, Stahl E, Stram D, Thornton T, Wassel C, Wilkens L, Winkler C, Yoneyama S, Buyske S, Haiman C, Kooperberg C, Le Marchand L, Loos R, Matise T, North K, Peters U, Kenny E, Carlson C. Genetic analyses of diverse populations improves discovery for complex traits. Nature 2019, 570: 514-518. PMID: 31217584, PMCID: PMC6785182, DOI: 10.1038/s41586-019-1310-4.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesComplex traitsBiology of complex traitsDiverse populationsEvidence of effect-size heterogeneityGenome-wide effortsLarge-scale genomic studiesReduce health disparitiesNon-European individualsHighest burden of diseaseMulti-ethnic participantsEffect-size heterogeneityBurden of diseaseRepresentation of diverse populationsGWAS associationsNovel lociRisk prediction scoreAdmixed populationsFine-mappingGenetic architectureAssociation studiesGenomic studiesHealth disparitiesHealthcare disparitiesPopulation ArchitectureThe history and current status of medical genetics and genomics system in the United States
Jiang YH, Huang T. The history and current status of medical genetics and genomics system in the United States. 中华医学遗传学杂志 2019, 36: 1-6. PMID: 30722085, DOI: 10.3760/cma.j.issn.1003-9406.2019.01.001.Peer-Reviewed Original Research
2015
An integrated map of structural variation in 2,504 human genomes
Sudmant PH, Rausch T, Gardner EJ, Handsaker RE, Abyzov A, Huddleston J, Zhang Y, Ye K, Jun G, Hsi-Yang Fritz M, Konkel MK, Malhotra A, Stütz AM, Shi X, Paolo Casale F, Chen J, Hormozdiari F, Dayama G, Chen K, Malig M, Chaisson MJP, Walter K, Meiers S, Kashin S, Garrison E, Auton A, Lam HYK, Jasmine Mu X, Alkan C, Antaki D, Bae T, Cerveira E, Chines P, Chong Z, Clarke L, Dal E, Ding L, Emery S, Fan X, Gujral M, Kahveci F, Kidd JM, Kong Y, Lameijer EW, McCarthy S, Flicek P, Gibbs RA, Marth G, Mason CE, Menelaou A, Muzny DM, Nelson BJ, Noor A, Parrish NF, Pendleton M, Quitadamo A, Raeder B, Schadt EE, Romanovitch M, Schlattl A, Sebra R, Shabalin AA, Untergasser A, Walker JA, Wang M, Yu F, Zhang C, Zhang J, Zheng-Bradley X, Zhou W, Zichner T, Sebat J, Batzer MA, McCarroll SA, Mills R, Gerstein M, Bashir A, Stegle O, Devine S, Lee C, Eichler E, Korbel J. An integrated map of structural variation in 2,504 human genomes. Nature 2015, 526: 75-81. PMID: 26432246, PMCID: PMC4617611, DOI: 10.1038/nature15394.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceGenetic Predisposition to DiseaseGenetic VariationGenetics, MedicalGenetics, PopulationGenome-Wide Association StudyGenome, HumanGenomicsGenotypeHaplotypesHomozygoteHumansMolecular Sequence DataMutation RatePhysical Chromosome MappingPolymorphism, Single NucleotideQuantitative Trait LociSequence Analysis, DNASequence DeletionConceptsStructural variantsHuman genomeExpression quantitative trait lociGenome-wide association studiesIndividual mutational eventsQuantitative trait lociComplex structural variantsHomozygous gene knockoutsDNA sequencing dataLoci subjectTrait lociHuman genesGene knockoutIntegrated mapSequencing dataAssociation studiesMutational eventsHaplotype blocksVariant classesFunctional impactPopulation stratificationGenomeNumerous diseasesHuman populationStructural variationsThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Akdemir Z, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA, Genomics C, Bamshad MJ. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal Of Human Genetics 2015, 97: 199-215. PMID: 26166479, PMCID: PMC4573249, DOI: 10.1016/j.ajhg.2015.06.009.Peer-Reviewed Original ResearchConceptsMendelian phenotypesGenetic basisLarge-scale whole-exome sequencingMendelian conditionsGene functionGene regulationGenomic dataWhole-exome sequencingMendelian GenomicsGenesPhenotypic characterizationNovel mechanismExtensive clinical variabilityGenetic variantsPhenotypePervasive sharingBiological mechanismsSequencingNew therapeuticsSuch discoveriesFamilyDiscoveryHuman healthGenomicsClinical variabilityJoint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder
Maier R, Moser G, Chen G, Ripke S, Consortium C, Absher D, Agartz I, Akil H, Amin F, Andreassen O, Anjorin A, Anney R, Arking D, Asherson P, Azevedo M, Backlund L, Badner J, Bailey A, Banaschewski T, Barchas J, Barnes M, Barrett T, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen S, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder E, Black D, Blackwood D, Bloss C, Boehnke M, Boomsma D, Breen G, Breuer R, Bruggeman R, Buccola N, Buitelaar J, Bunney W, Buxbaum J, Byerley W, Caesar S, Cahn W, Cantor R, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger C, Collier D, Cook E, Coon H, Cormand B, Cormican P, Corvin A, Coryell W, Craddock N, Craig D, Craig I, Crosbie J, Cuccaro M, Curtis D, Czamara D, Daly M, Datta S, Dawson G, Day R, De Geus E, Degenhardt F, Devlin B, Djurovic S, Donohoe G, Doyle A, Duan J, Dudbridge F, Duketis E, Ebstein R, Edenberg H, Elia J, Ennis S, Etain B, Fanous A, Faraone S, Farmer A, Ferrier I, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer N, Freitag C, Friedl M, Frisén L, Gallagher L, Gejman P, Georgieva L, Gershon E, Geschwind D, Giegling I, Gill M, Gordon S, Gordon-Smith K, Green E, Greenwood T, Grice D, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines J, Hakonarson H, Hallmayer J, Hamilton S, Hamshere M, Hansen T, Hartmann A, Hautzinger M, Heath A, Henders A, Herms S, Hickie I, Hipolito M, Hoefels S, Holmans P, Holsboer F, Hoogendijk W, Hottenga J, Hultman C, Hus V, Ingason A, Ising M, Jamain S, Jones I, Jones L, Kähler A, Kahn R, Kandaswamy R, Keller M, Kelsoe J, Kendler K, Kennedy J, Kenny E, Kent L, Kim Y, Kirov G, Klauck S, Klei L, Knowles J, Kohli M, Koller D, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson W, Leboyer M, Ledbetter D, Lee P, Lencz T, Lesch K, Levinson D, Lewis C, Li J, Lichtenstein P, Lieberman J, Lin D, Linszen D, Liu C, Lohoff F, Loo S, Lord C, Lowe J, Lucae S, MacIntyre D, Madden P, Maestrini E, Magnusson P, Mahon P, Maier W, Malhotra A, Mane S, Martin C, Martin N, Mattheisen M, Matthews K, Mattingsdal M, McCarroll S, McGhee K, McGough J, McGrath P, McGuffin P, McInnis M, McIntosh A, McKinney R, McLean A, McMahon F, McMahon W, McQuillin A, Medeiros H, Medland S, Meier S, Melle I, Meng F, Meyer J, Middeldorp C, Middleton L, Milanova V, Miranda A, Monaco A, Montgomery G, Moran J, Moreno-De-Luca D, Morken G, Morris D, Morrow E, Moskvina V, Mowry B, Muglia P, Mühleisen T, Müller-Myhsok B, Murtha M, Myers R, Myin-Germeys I, Neale B, Nelson S, Nievergelt C, Nikolov I, Nimgaonkar V, Nolen W, Nöthen M, Nurnberger J, Nwulia E, Nyholt D, O’Donovan M, O’Dushlaine C, Oades R, Olincy A, Oliveira G, Olsen L, Ophoff R, Osby U, Owen M, Palotie A, Parr J, Paterson A, Pato C, Pato M, Penninx B, Pergadia M, Pericak-Vance M, Perlis R, Pickard B, Pimm J, Piven J, Posthuma D, Potash J, Poustka F, Propping P, Purcell S, Puri V, Quested D, Quinn E, Ramos-Quiroga J, Rasmussen H, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice J, Rietschel M, Ripke S, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders A, Sanders S, Santangelo S, Schachar R, Schalling M, Schatzberg A, Scheftner W, Schellenberg G, Scherer S, Schork N, Schulze T, Schumacher J, Schwarz M, Scolnick E, Scott L, Sergeant J, Shi J, Shilling P, Shyn S, Silverman J, Sklar P, Slager S, Smalley S, Smit J, Smith E, Smoller J, Sonuga-Barke E, St Clair D, State M, Steffens M, Steinhausen H, Strauss J, Strohmaier J, Stroup T, Sullivan P, Sutcliffe J, Szatmari P, Szelinger S, Thapar A, Thirumalai S, Thompson R, Todorov A, Tozzi F, Treutlein J, Tzeng J, Uhr M, van den Oord E, Van Grootheest G, Van Os J, Vicente A, Vieland V, Vincent J, Visscher P, Walsh C, Wassink T, Watson S, Weiss L, Weissman M, Werge T, Wienker T, Wiersma D, Wijsman E, Willemsen G, Williams N, Willsey A, Witt S, Wray N, Xu W, Young A, Yu T, Zammit S, Zandi P, Zhang P, Zitman F, Zöllner S, Coryell W, Potash J, Scheftner W, Shi J, Weissman M, Hultman C, Landén M, Levinson D, Kendler K, Smoller J, Wray N, Lee S. Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder. American Journal Of Human Genetics 2015, 96: 283-294. PMID: 25640677, PMCID: PMC4320268, DOI: 10.1016/j.ajhg.2014.12.006.Peer-Reviewed Original ResearchConceptsMultiple random effectsPrediction accuracyMultivariate linear mixed modelGenetic risk predictionGenomic best linear unbiased predictionBest linear unbiased predictionLinear unbiased predictionRandom effectsSample sizeUnbiased predictionMultivariate approachJoint analysisLinear mixed modelsAccuracyPowerful tool
2014
Predicting survival in head and neck squamous cell carcinoma from TP53 mutation
Masica DL, Li S, Douville C, Manola J, Ferris RL, Burtness B, Forastiere AA, Koch WM, Chung CH, Karchin R. Predicting survival in head and neck squamous cell carcinoma from TP53 mutation. Human Genetics 2014, 134: 497-507. PMID: 25108461, PMCID: PMC4324386, DOI: 10.1007/s00439-014-1470-0.Peer-Reviewed Original ResearchMaritime route of colonization of Europe
Paschou P, Drineas P, Yannaki E, Razou A, Kanaki K, Tsetsos F, Padmanabhuni SS, Michalodimitrakis M, Renda MC, Pavlovic S, Anagnostopoulos A, Stamatoyannopoulos JA, Kidd KK, Stamatoyannopoulos G. Maritime route of colonization of Europe. Proceedings Of The National Academy Of Sciences Of The United States Of America 2014, 111: 9211-9216. PMID: 24927591, PMCID: PMC4078858, DOI: 10.1073/pnas.1320811111.Peer-Reviewed Original ResearchConceptsSouthern European coastsGene flowGenome-wide DNA polymorphismsEuropean coastsWest clineDNA polymorphismsNeolithic farmersCoastal routeMediterranean SeaNetwork analysisMediterranean coastMainland EuropeNeolithic populationsCentral EuropeClineCoastGenesColonizationNear EastStriking structurePolymorphismPopulationAnatoliaHypothesisIslands
2013
The Evolution of Lineage-Specific Regulatory Activities in the Human Embryonic Limb
Cotney J, Leng J, Yin J, Reilly SK, DeMare LE, Emera D, Ayoub AE, Rakic P, Noonan JP. The Evolution of Lineage-Specific Regulatory Activities in the Human Embryonic Limb. Cell 2013, 154: 185-196. PMID: 23827682, PMCID: PMC3785101, DOI: 10.1016/j.cell.2013.05.056.Peer-Reviewed Original ResearchConceptsCis-regulatory evolutionHistone modification H3K27acGenome-wide viewMouse limb developmentRegulatory activityGain of activityMost enhancersGene regulationEmbryonic limbLimb developmentHuman lineageEnhancer activityHuman embryonic tissuesGene expressionEmbryonic tissuesRegulatory functionsPromoterH3K27acMolecular driversGenetic causeHeterogeneous genetic causesEnhancerQuantitative readoutMorphological evolutionAnatomical features
2012
The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions
Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA, Genomics O. The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions. American Journal Of Medical Genetics Part A 2012, 158A: 1523-1525. PMID: 22628075, PMCID: PMC3702263, DOI: 10.1002/ajmg.a.35470.Peer-Reviewed Original ResearchConceptsWhole-genome sequencingMendelian GenomicsMendelian disordersHuman genetics communityNext-generation exome sequencingExome sequencingGenomicsMendelian phenotypesGenome sequencingGenetics communityRare Mendelian conditionsMendelian conditionsGenesSequencingNew powerful toolPowerful toolLarge fractionPhenotypeLarge-scale initiativesDiscoveryIdentification
2010
The Relationship between Peroxisome Proliferator-Activated Receptor-γ and Renin: A Human Genetics Study
Underwood PC, Sun B, Williams JS, Pojoga LH, Chamarthi B, Lasky-Su J, Raby BA, Hopkins PN, Jeunemaitre X, Brown NJ, Adler GK, Williams GH. The Relationship between Peroxisome Proliferator-Activated Receptor-γ and Renin: A Human Genetics Study. The Journal Of Clinical Endocrinology & Metabolism 2010, 95: e75-e79. PMID: 20631015, PMCID: PMC2936061, DOI: 10.1210/jc.2010-0270.Peer-Reviewed Original ResearchConceptsPRA levelsPeroxisome proliferator-activated receptor gamma agonistPlasma renin activity levelsProliferator-activated receptor gamma agonistsVolume retentionAfrican-American hypertensivesHigh PRA levelsLow-salt dietRenin activity levelsAngiotensin II infusionMajor allele carriersSingle nucleotide polymorphismsC allele carrier statusReceptor gamma agonistsAllele carrier statusII infusionHypertensive participantsCombined P valueHuman hypertensionGamma agonistsNucleotide polymorphismsAllele carriersPPARgamma agonistsPPARgamma geneRenin
2007
Medical Anthropology at the Intersections
Inhorn M. Medical Anthropology at the Intersections. Medical Anthropology Quarterly 2007, 21: 249-255. PMID: 17937248, DOI: 10.1525/maq.2007.21.3.249.Peer-Reviewed Original Research
2006
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC
de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J, Ke X, Monsuur AJ, Whittaker P, Delgado M, Morrison J, Richardson A, Walsh EC, Gao X, Galver L, Hart J, Hafler DA, Pericak-Vance M, Todd JA, Daly MJ, Trowsdale J, Wijmenga C, Vyse TJ, Beck S, Murray SS, Carrington M, Gregory S, Deloukas P, Rioux JD. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nature Genetics 2006, 38: 1166-1172. PMID: 16998491, PMCID: PMC2670196, DOI: 10.1038/ng1885.Peer-Reviewed Original ResearchConceptsMajor histocompatibility complexHLA genesClassical HLA class IHLA class INon-HLA genesHigh-resolution HLAPolymorphic HLA genesMultiple HLATransplant rejectionClassical HLA genesHuman major histocompatibility complexImmune recognitionClass II genesHistocompatibility complexClass IHLA lociAssociation studies
2004
Setting Priorities for Genomic Research
Berrettini W, Bierut L, Crowley TJ, Cubells JF, Frascella J, Gelernter J, Hewitt JK, Kreek MJ, Lachman H, Leppert M, Li MD, Madden P, Miner C, Pollock JD, Pomerleau O, Rice JP, Rutter JL, Shurtleff D, Swan GE, Tischfield JA, Tsuang M, Uhl GR, Vanyukov M, Volkow ND, Wanke K. Setting Priorities for Genomic Research. Science 2004, 304: 1445-1447. PMID: 15178784, DOI: 10.1126/science.304.5676.1445c.Peer-Reviewed Original ResearchThe Clinical Relevance of Genomic Variation
Kansagra S, List J. The Clinical Relevance of Genomic Variation. JAMA 2004, 291: 1641-1641. PMID: 15069054, DOI: 10.1001/jama.291.13.1641.Peer-Reviewed Original Research
2000
A genetic algorithm approach to multi-disorder diagnosis
Vinterbo S, Ohno-Machado L. A genetic algorithm approach to multi-disorder diagnosis. Artificial Intelligence In Medicine 2000, 18: 117-132. PMID: 10648846, DOI: 10.1016/s0933-3657(99)00036-6.Peer-Reviewed Original Research
1999
Genetics of Childhood Disorders: IV. Linkage Analysis
Lombroso P, PAULS D. Genetics of Childhood Disorders: IV. Linkage Analysis. Journal Of The American Academy Of Child & Adolescent Psychiatry 1999, 38: 932-934. PMID: 10405513, DOI: 10.1097/00004583-199907000-00025.Peer-Reviewed Original ResearchClinical Epidemiological Quality in Molecular Genetic Research: The Need for Methodological Standards
Bogardus S, Concato J, Feinstein A. Clinical Epidemiological Quality in Molecular Genetic Research: The Need for Methodological Standards. JAMA 1999, 281: 1919-1926. PMID: 10349896, DOI: 10.1001/jama.281.20.1919.Peer-Reviewed Original ResearchMeSH KeywordsClinical MedicineCross-Sectional StudiesGenetics, MedicalMolecular BiologyMolecular EpidemiologyPublishingResearchConceptsEpidemiological qualityMore patientsCross-sectional studyClinical journalsMolecular genetic testingMolecular genetic analysisCase groupClinical epidemiologyMAIN OUTCOMEMedical conditionsMethodological standardsGenetic testingEpidemiological scienceOriginal research articlesMolecular testsComparison groupLaboratory advances
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