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Items: 24

1.

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Bryen SJ, Ewans L, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Majumdar A, Straub V, Bonnemann C, MacArthur DG, Davis MR, Cooper ST.

Hum Mutat. 2019 Oct 29. doi: 10.1002/humu.23938. [Epub ahead of print]

PMID:
31660661
2.

Variant Score Ranker-a web application for intuitive missense variant prioritization.

Du J, Sudarsanam M, Pérez-Palma E, Ganna A, Francioli L, Iqbal S, Niestroj LM, Leu C, Weisburd B, Poterba T, Nürnberg P, Daly MJ, Palotie A, May P, Lal D.

Bioinformatics. 2019 Nov 1;35(21):4478-4479. doi: 10.1093/bioinformatics/btz252.

PMID:
31086968
3.

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM.

Eur J Hum Genet. 2019 Sep;27(9):1456-1465. doi: 10.1038/s41431-019-0417-2. Epub 2019 May 3.

PMID:
31053783
4.

novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data.

Mohanty AK, Vuzman D, Francioli L, Cassa C; Brigham Genomic Medicine; Undiagnosed Diseases Network; Brigham and Women’s Hospital FaceBase Project, Toth-Petroczy A, Sunyaev S.

Bioinformatics. 2019 Apr 1;35(7):1174-1180. doi: 10.1093/bioinformatics/bty749.

PMID:
30169785
5.

Optimal Cut-Off Points for the Short-Negative Act Questionnaire and Their Association with Depressive Symptoms and Diagnosis of Depression.

Conway PM, Høgh A, Nabe-Nielsen K, Grynderup MB, Mikkelsen EG, Persson R, Rugulies R, Bonde JPE, Francioli L, Hansen ÅM.

Ann Work Expo Health. 2018 Mar 12;62(3):281-294. doi: 10.1093/annweh/wxx105.

PMID:
29304192
6.

Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci.

Lessard S, Francioli L, Alfoldi J, Tardif JC, Ellinor PT, MacArthur DG, Lettre G, Orkin SH, Canver MC.

Proc Natl Acad Sci U S A. 2017 Dec 26;114(52):E11257-E11266. doi: 10.1073/pnas.1714640114. Epub 2017 Dec 11.

7.

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Andersen PM, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Nürnberg P, Pulit SL, Schellevis RD, Calini D, Altmüller J, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, Volk AE.

Hum Mutat. 2017 Nov;38(11):1534-1541. doi: 10.1002/humu.23295. Epub 2017 Aug 3.

8.

Negative selection in humans and fruit flies involves synergistic epistasis.

Sohail M, Vakhrusheva OA, Sul JH, Pulit SL, Francioli LC; Genome of the Netherlands Consortium; Alzheimer’s Disease Neuroimaging Initiative, van den Berg LH, Veldink JH, de Bakker PIW, Bazykin GA, Kondrashov AS, Sunyaev SR.

Science. 2017 May 5;356(6337):539-542. doi: 10.1126/science.aah5238.

9.

A framework for the detection of de novo mutations in family-based sequencing data.

Francioli LC, Cretu-Stancu M, Garimella KV, Fromer M, Kloosterman WP; Genome of the Netherlands consortium, Samocha KE, Neale BM, Daly MJ, Banks E, DePristo MA, de Bakker PI.

Eur J Hum Genet. 2017 Feb;25(2):227-233. doi: 10.1038/ejhg.2016.147. Epub 2016 Nov 23.

10.

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.

Hehir-Kwa JY, Marschall T, Kloosterman WP, Francioli LC, Baaijens JA, Dijkstra LJ, Abdellaoui A, Koval V, Thung DT, Wardenaar R, Renkens I, Coe BP, Deelen P, de Ligt J, Lameijer EW, van Dijk F, Hormozdiari F; Genome of the Netherlands Consortium, Uitterlinden AG, van Duijn CM, Eichler EE, de Bakker PI, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Ye K, Guryev V.

Nat Commun. 2016 Oct 6;7:12989. doi: 10.1038/ncomms12989.

11.

Does Perceived Stress Mediate the Association Between Workplace Bullying and Long-Term Sickness Absence?

Grynderup MB, Nabe-Nielsen K, Lange T, Conway PM, Bonde JP, Francioli L, Garde AH, Kaerlev L, Rugulies R, Vammen MA, Hgh A, Hansen ÅM.

J Occup Environ Med. 2016 Jun;58(6):e226-30. doi: 10.1097/JOM.0000000000000750.

PMID:
27129021
12.

Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates.

Palamara PF, Francioli LC, Wilton PR, Genovese G, Gusev A, Finucane HK, Sankararaman S; Genome of the Netherlands Consortium, Sunyaev SR, de Bakker PI, Wakeley J, Pe'er I, Price AL.

Am J Hum Genet. 2015 Dec 3;97(6):775-89. doi: 10.1016/j.ajhg.2015.10.006. Epub 2015 Nov 12.

13.

Genome-wide patterns and properties of de novo mutations in humans.

Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I; Genome of the Netherlands Consortium, van Duijn CM, Swertz M, Wijmenga C, van Ommen G, Slagboom PE, Boomsma DI, Ye K, Guryev V, Arndt PF, Kloosterman WP, de Bakker PIW, Sunyaev SR.

Nat Genet. 2015 Jul;47(7):822-826. doi: 10.1038/ng.3292. Epub 2015 May 18.

14.

Characteristics of de novo structural changes in the human genome.

Kloosterman WP, Francioli LC, Hormozdiari F, Marschall T, Hehir-Kwa JY, Abdellaoui A, Lameijer EW, Moed MH, Koval V, Renkens I, van Roosmalen MJ, Arp P, Karssen LC, Coe BP, Handsaker RE, Suchiman ED, Cuppen E, Thung DT, McVey M, Wendl MC; Genome of Netherlands Consortium, Uitterlinden A, van Duijn CM, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Eichler EE, de Bakker PI, Ye K, Guryev V.

Genome Res. 2015 Jun;25(6):792-801. doi: 10.1101/gr.185041.114. Epub 2015 Apr 16.

15.

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.

van Leeuwen EM, Karssen LC, Deelen J, Isaacs A, Medina-Gomez C, Mbarek H, Kanterakis A, Trompet S, Postmus I, Verweij N, van Enckevort DJ, Huffman JE, White CC, Feitosa MF, Bartz TM, Manichaikul A, Joshi PK, Peloso GM, Deelen P, van Dijk F, Willemsen G, de Geus EJ, Milaneschi Y, Penninx BW, Francioli LC, Menelaou A, Pulit SL, Rivadeneira F, Hofman A, Oostra BA, Franco OH, Mateo Leach I, Beekman M, de Craen AJ, Uh HW, Trochet H, Hocking LJ, Porteous DJ, Sattar N, Packard CJ, Buckley BM, Brody JA, Bis JC, Rotter JI, Mychaleckyj JC, Campbell H, Duan Q, Lange LA, Wilson JF, Hayward C, Polasek O, Vitart V, Rudan I, Wright AF, Rich SS, Psaty BM, Borecki IB, Kearney PM, Stott DJ, Adrienne Cupples L; Genome of The Netherlands Consortium, Jukema JW, van der Harst P, Sijbrands EJ, Hottenga JJ, Uitterlinden AG, Swertz MA, van Ommen GJ, de Bakker PI, Eline Slagboom P, Boomsma DI, Wijmenga C, van Duijn CM.

Nat Commun. 2015 Mar 9;6:6065. doi: 10.1038/ncomms7065.

16.

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.

Kuiper JJ, Van Setten J, Ripke S, Van 'T Slot R, Mulder F, Missotten T, Baarsma GS, Francioli LC, Pulit SL, De Kovel CG, Ten Dam-Van Loon N, Den Hollander AI, Huis in het Veld P, Hoyng CB, Cordero-Coma M, Martín J, Llorenç V, Arya B, Thomas D, Bakker SC, Ophoff RA, Rothova A, De Bakker PI, Mutis T, Koeleman BP.

Hum Mol Genet. 2014 Nov 15;23(22):6081-7. doi: 10.1093/hmg/ddu307. Epub 2014 Jun 22.

17.

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

Deelen P, Menelaou A, van Leeuwen EM, Kanterakis A, van Dijk F, Medina-Gomez C, Francioli LC, Hottenga JJ, Karssen LC, Estrada K, Kreiner-Møller E, Rivadeneira F, van Setten J, Gutierrez-Achury J, Westra HJ, Franke L, van Enckevort D, Dijkstra M, Byelas H, van Duijn CM; Genome of Netherlands Consortium, de Bakker PI, Wijmenga C, Swertz MA.

Eur J Hum Genet. 2014 Nov;22(11):1321-6. doi: 10.1038/ejhg.2014.19. Epub 2014 Jun 4.

18.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

19.

The Genome of the Netherlands: design, and project goals.

Boomsma DI, Wijmenga C, Slagboom EP, Swertz MA, Karssen LC, Abdellaoui A, Ye K, Guryev V, Vermaat M, van Dijk F, Francioli LC, Hottenga JJ, Laros JF, Li Q, Li Y, Cao H, Chen R, Du Y, Li N, Cao S, van Setten J, Menelaou A, Pulit SL, Hehir-Kwa JY, Beekman M, Elbers CC, Byelas H, de Craen AJ, Deelen P, Dijkstra M, den Dunnen JT, de Knijff P, Houwing-Duistermaat J, Koval V, Estrada K, Hofman A, Kanterakis A, Enckevort Dv, Mai H, Kattenberg M, van Leeuwen EM, Neerincx PB, Oostra B, Rivadeneira F, Suchiman EH, Uitterlinden AG, Willemsen G, Wolffenbuttel BH, Wang J, de Bakker PI, van Ommen GJ, van Duijn CM.

Eur J Hum Genet. 2014 Feb;22(2):221-7. doi: 10.1038/ejhg.2013.118. Epub 2013 May 29.

20.

[Work stress, common mental disorders and Work Ability Index among call center workers of an Italian company].

Conway PM, Campanini P, Punzi S, Fichera GP, Camerino D, Francioli L, Neri L, Costa G.

Epidemiol Prev. 2013 Jan-Feb;37(1):17-28. Italian.

PMID:
23585430
21.

Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.

Kiezun A, Pulit SL, Francioli LC, van Dijk F, Swertz M, Boomsma DI, van Duijn CM, Slagboom PE, van Ommen GJ, Wijmenga C; Genome of the Netherlands Consortium, de Bakker PI, Sunyaev SR.

PLoS Genet. 2013;9(2):e1003301. doi: 10.1371/journal.pgen.1003301. Epub 2013 Feb 28.

22.

[Job Demands-Resources, exhaustion and work engagement in a long-term care institution].

Conway PM, Neri L, Campanini P, Francioli L, Camerino D, Punzi S, Fichera GP, Costa G.

G Ital Med Lav Ergon. 2012 Jul-Sep;34(3 Suppl):695-9. Italian.

23.

[Assessing employees' perceptions of risk factors for job stress using context-specific methods: the case of call-center workers].

Conway PM, Aquilina T, Campanini P, Camerino D, Punzi S, Fichera GP, Francioli L, Neri L, Costa G.

G Ital Med Lav Ergon. 2011 Jul-Sep;33(3 Suppl):343-7. Italian.

PMID:
23393872
24.

A numeric model to simulate solar individual ultraviolet exposure.

Vernez D, Milon A, Francioli L, Bulliard JL, Vuilleumier L, Moccozet L.

Photochem Photobiol. 2011 May-Jun;87(3):721-8. doi: 10.1111/j.1751-1097.2011.00895.x. Epub 2011 Feb 10.

PMID:
21223287

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