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Search life-sciences literature (45,103,589 articles, preprints and more)

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Origins and impact of extrachromosomal DNA.
Bailey C, Pich O, Thol K, Watkins TBK, Luebeck J, Rowan A, Stavrou G, Weiser NE, Dameracharla B, Bentham R, Lu WT, Kittel J, Yang SYC, Howitt BE, Sharma N, Litovchenko M, Salgado R, Hung KL, Cornish AJ, [...] Swanton C
Nature, 635(8037):193-200, 06 Nov 2024
Cited by: 0 articles | PMID: 39506150 | PMCID: PMC11540846
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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium
J Med Genet, 61(7):689-698, 20 Jun 2024
Cited by: 0 articles | PMID: 38458752 | PMCID: PMC11228227
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Cerebral visual impairment: genetic diagnoses and phenotypic associations.
Shaw E, Flitcroft I, Bowman R, Baker K, Genomics England Research Consortium
J Med Genet, 61(6):605-612, 21 May 2024
Cited by: 0 articles | PMID: 38458753 | PMCID: PMC11137471
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Body mass, temperature, and pathogen intensity differentially affect critical thermal maxima and their population-level variation in a solitary bee.
Jones LJ, Miller DA, Schilder RJ, López-Uribe MM
Ecol Evol, 14(2):e10945, 15 Feb 2024
Cited by: 2 articles | PMID: 38362170 | PMCID: PMC10867875
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A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG, Leggatt G, Cheng G, Thomas NS, Ashton JJ, Stafford I, Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S, Genomics England Research Consortium
Genet Med, 26(4):101073, 18 Jan 2024
Cited by: 0 articles | PMID: 38245859
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Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, [...] Halbritter J
Gastroenterology, 166(5):902-914, 13 Dec 2023
Cited by: 1 article | PMID: 38101549
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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, [...] Cortese A
Brain, 146(12):5060-5069, 01 Dec 2023
Cited by: 22 articles | PMID: 37450567 | PMCID: PMC10689911
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Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR, Yu J, Pei Y, Cheng EWY, Taylor Tavares AL, Walker WT, Thomas NS, Kamath A, Ibitoye R, Josifova D, Wilsdon A, Ross A, Calder AD, Offiah AC, Wilkie AOM, Genomics England Research Consortium, Taylor JC, Pagnamenta AT
J Med Genet, 60(12):1235-1244, 27 Nov 2023
Cited by: 2 articles | PMID: 37558402 | PMCID: PMC10715503
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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, [...] Lakhani SA
Genet Med, 26(2):101023, 07 Nov 2023
Cited by: 2 articles | PMID: 37947183
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Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.
Lam T, Rocca C, Ibanez K, Dalmia A, Tallman S, Hadjivassiliou M, Hensiek A, Nemeth A, Facchini S, Genomics England Research Consortium , Wood N, Cortese A, Houlden H, Tucci A
Brain Commun, 5(5):fcad244, 14 Sep 2023
Cited by: 1 article | PMID: 37810464 | PMCID: PMC10558097
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A novel likely pathogenic CLCN5 variant in Dent's disease.
Hayward S, Norton J, Bownass L, Platt C, Genomics England Research Consortium, Campbell H, Watson E, Forrester N, Smithson S, Menon A
BMC Nephrol, 24(1):256, 28 Aug 2023
Cited by: 0 articles | PMID: 37641036 | PMCID: PMC10463507
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Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R, Genomics England Research Consortium, Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM
Brain, 146(9):3885-3897, 01 Sep 2023
Cited by: 16 articles | PMID: 37006128 | PMCID: PMC10473570
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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, [...] Steet R
Kidney Int, 104(5):995-1007, 19 Aug 2023
Cited by: 5 articles | PMID: 37598857 | PMCID: PMC10592035
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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, [...] van Esbroeck ACM
Am J Hum Genet, 110(8):1414-1435, 01 Aug 2023
Cited by: 4 articles | PMID: 37541189 | PMCID: PMC10432175
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Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease.
Sadeghi-Alavijeh O, Chan MMY, Moochhala SH, Genomics England Research Consortium, Howles S, Gale DP, Böckenhauer D
Kidney Int, 104(5):975-984, 04 Jul 2023
Cited by: 4 articles | PMID: 37414395
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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Gracia-Diaz C, Zhou Y, Yang Q, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, [...] Akizu N
Nat Commun, 14(1):4109, 11 Jul 2023
Cited by: 5 articles | PMID: 37433783 | PMCID: PMC10336078
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Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.
Sanjaya P, Maljanen K, Katainen R, Waszak SM, Genomics England Research Consortium, Aaltonen LA, Stegle O, Korbel JO, Pitkänen E
Genome Med, 15(1):47, 07 Jul 2023
Cited by: 7 articles | PMID: 37420249 | PMCID: PMC10326961
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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Chen Z, Tucci A, Cipriani V, Gustavsson EK, Ibañez K, Reynolds RH, Zhang D, Vestito L, García AC, Sethi S, Brenton JW, García-Ruiz S, Fairbrother-Browne A, Gil-Martinez AL, Genomics England Research Consortium, Wood N, Hardy JA, Smedley D, Houlden H, [...] Ryten M
Brain, 146(7):2869-2884, 01 Jul 2023
Cited by: 3 articles | PMID: 36624280 | PMCID: PMC10316781
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Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O, Lesurf R, Genomics England Research Consortium, Lougheed J, Mondal T, Smythe J, Altamirano-Diaz L, Oechslin E, Mital S
J Cardiovasc Transl Res, 16(6):1287-1302, 21 Jul 2023
Cited by: 3 articles | PMID: 37477868 | PMCID: PMC10721711
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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, [...] Guerrini R
Am J Hum Genet, 110(8):1356-1376, 07 Jul 2023
Cited by: 12 articles | PMID: 37421948 | PMCID: PMC10432263
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A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
Leggatt G, Cheng G, Narain S, Briseño-Roa L, Annereau JP, Genomics England Research Consortium, Gast C, Gilbert RD, Ennis S
Sci Rep, 13(1):9369, 09 Jun 2023
Cited by: 2 articles | PMID: 37296294 | PMCID: PMC10256716
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Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Zanovello M, Ibáñez K, Brown AL, Sivakumar P, Bombaci A, Santos L, van Vugt JJFA, Narzisi G, Karra R, Scholz SW, Ding J, Gibbs JR, Chiò A, Dalgard C, Weisburd B, American Genome Center (TAGC) consortium, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, The NYGC ALS Consortium, [...] Tucci A
Brain, 146(7):2723-2729, 01 Jul 2023
Cited by: 8 articles | PMID: 36797998 | PMCID: PMC10316764
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The genomic landscape of familial glioma.
Choi DJ, Armstrong G, Lozzi B, Vijayaraghavan P, Plon SE, Wong TC, Boerwinkle E, Muzny DM, Chen HC, Gibbs RA, Ostrom QT, Melin B, Deneen B, Bondy ML, Gliogene Consortium, Genomics England Research Consortium, Bainbridge MN, Amos CI, Barnholtz-Sloan JS, [...] Zarowiecki M
Sci Adv, 9(17):eade2675, 28 Apr 2023
Cited by: 5 articles | PMID: 37115922 | PMCID: PMC10146888
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Dynamic Biobanking for Advancing Breast Cancer Research.
Abdollahyan M, Gadaleta E, Asif M, Oscanoa J, Barrow-McGee R, Jones S, Jones LJ, Chelala C
J Pers Med, 13(2):360, 18 Feb 2023
Cited by: 2 articles | PMID: 36836597 | PMCID: PMC9959444
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Squash bees host high diversity and prevalence of parasites in the northeastern United States.
Jones LJ, Singh A, Schilder RJ, López-Uribe MM
J Invertebr Pathol, 195:107848, 04 Nov 2022
Cited by: 3 articles | PMID: 36343669
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1-25 of 152 results

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Search life-sciences literature (45,103,589 articles, preprints and more)

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Origins and impact of extrachromosomal DNA.

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.

Cerebral visual impairment: genetic diagnoses and phenotypic associations.

Body mass, temperature, and pathogen intensity differentially affect critical thermal maxima and their population-level variation in a solitary bee.

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.

A novel likely pathogenic CLCN5 variant in Dent's disease.

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Age and Sex Differences in the Genetics of Cardiomyopathy.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

The genomic landscape of familial glioma.

Dynamic Biobanking for Advancing Breast Cancer Research.

Squash bees host high diversity and prevalence of parasites in the northeastern United States.

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