Publications
Gudmundsson S, Singer-Berk M, Stenton SL, Goodrich JK, Wilson MW, Einson J, Watts NA; Genome Aggregation Database Consortium; Lappalainen T, Rehm HL, MacArthur DG, O'Donnell-Luria A. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database. bioRxiv [Preprint]. 2024 Jun 13:2024.06.12.593113. doi: 10.1101/2024.06.12.593113. PMID: 38915639; PMCID: PMC11195293.
Zhou W, Cuomo ASE, Xue A, Kanai M, Chau G, Krishna C, Xavier RJ, MacArthur DG, Powell JE, Daly MJ, Neale BM. Efficient and accurate mixed model association tool for single-cell eQTL analysis. medRxiv [Preprint]. 2024 May 16:2024.05.15.24307317. doi: 10.1101/2024.05.15.24307317. PMID: 38798318; PMCID: PMC11118640.
Chao KR, Wang L, Panchal R, Liao C, Abderrazzaq H, Ye R, Schultz P, Compitello J, Grant RH, Kosmicki JA, Weisburd B, Phu W, Wilson MW, Laricchia KM, Goodrich JK, Goldstein D, Goldstein JI, Vittal C, Poterba T, Baxter S, Watts NA, Solomonson M; gnomAD Consortium; Tiao G, Rehm HL, Neale BM, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Karczewski KJ, Radivojac P, Daly MJ, Samocha KE. The landscape of regional missense mutational intolerance quantified from 125,748 exomes. bioRxiv [Preprint]. 2024 May 3:2024.04.11.588920. doi: 10.1101/2024.04.11.588920. PMID: 38645134; PMCID: PMC11030311.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. PMID: 38585825; PMCID: PMC10996746.
Ganesh VS, Riquin K, Chatron N, Lamar KM, Aziz MC, Monin P, O'Leary M, Goodrich JK, Garimella KV, England E, Yoon E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S; Undiagnosed Diseases Network; Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Isidor B, Pengam A, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA. medRxiv [Preprint]. 2024 Feb 7:2024.01.31.24301497. doi: 10.1101/2024.01.31.24301497. PMID: 38496558; PMCID: PMC10942497.
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, Laricchia KM, Barry BJ, Bradford VR, Lek M, MacArthur DG, Lee EA, Talkowski ME, Brand H, Pennacchio LA, Engle EC. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. medRxiv [Preprint]. 2023 Dec 27:2023.12.22.23300468. doi: 10.1101/2023.12.22.23300468. PMID: 38234731; PMCID: PMC10793524.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Epub ahead of print. PMID: 39033378.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JMM, Sanders SJ, O'Donnell-Luria A, Whiffin N. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Jul 11. doi: 10.1038/s41586-024-07773-7. Epub ahead of print. PMID: 38991538.
Mallawaarachchi AC, Fowles L, Wardrop L, Wood A, O'Shea R, Biros E, Harris T, Alexander SI, Bodek S, Boudville N, Burke J, Burnett L, Casauria S, Chadban S, Chakera A, Crafter S, Dai P, De Fazio P, Faull R, Honda A, Huntley V, Jahan S, Jayasinghe K, Jose M, Leaver A, MacShane M, Madelli EO, Nicholls K, Pawlowski R, Rangan G, Snelling P, Soraru J, Sundaram M, Tchan M, Valente G, Wallis M, Wedd L, Welland M, Whitlam J, Wilkins EJ, McCarthy H, Simons C, Quinlan C, Patel C, Stark Z, Mallett AJ. Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clin J Am Soc Nephrol. 2024 Jul 1;19(7):887-897. doi: 10.2215/CJN.0000000000000464. Epub 2024 May 3. PMID: 38861662; PMCID: PMC11254024.
Grosz BR, Parmar JM, Ellis M, Bryen S, Simons C, Reis ALM, Stevanovski I, Deveson IW, Nicholson G, Laing N, Wallis M, Ravenscroft G, Kumar KR, Vucic S, Kennerson ML. A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. J Peripher Nerv Syst. 2024 Jun;29(2):262-274. doi: 10.1111/jns.12637. Epub 2024 Jun 11. PMID: 38860315.
Beerepoot S, Verbeke JIML, Plantinga M, Nierkens S, Pouwels PJW, Wolf NI, Simons C, van der Knaap MS. Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings. Am J Med Genet A. 2024 Jun 27:e63800. doi: 10.1002/ajmg.a.63800. Epub ahead of print. PMID: 38934054.
Wieder N, D'Souza EN, Martin-Geary AC, Lassen FH, Talbot-Martin J, Fernandes M, Chothani SP, Rackham OJL, Schafer S, Aspden JL, MacArthur DG, Davies RW, Whiffin N. Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes. Genome Biol. 2024 Apr 29;25(1):111. doi: 10.1186/s13059-024-03248-0. PMID: 38685090; PMCID: PMC11057154.
Wojcik MH , Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. PMID: 38838312.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. PMID: 38565148; PMCID: PMC11080278.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Ann Clin Transl Neurol. 2024 May;11(5):1250-1266. doi: 10.1002/acn3.52041. Epub 2024 Mar 27. PMID: 38544359; PMCID: PMC11093248.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. PMID: 38429495; PMCID: PMC10937387.
Passchier EMJ, Bisseling Q, Helman G, van Spaendonk RML, Simons C, Olsthoorn RCL, van der Veen H, Abbink TEM, van der Knaap MS, Min R. Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature. Front Genet. 2024 Feb 29;15:1352947. doi: 10.3389/fgene.2024.1352947. PMID: 38487253; PMCID: PMC10938252.
Hudson R, Abeysekera N, Wolski P, Simons C, Francis L, Farnsworth E, Bennetts B, Patel C, Spijker S, Mallett A. De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome. J Nephrol. 2024 Jan;37(1):191-197. doi: 10.1007/s40620-023-01666-0. Epub 2023 Jun 13. PMID: 37308774; PMCID: PMC10920409.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Erratum in: Nature. 2024 Feb;626(7997):E1. doi: 10.1038/s41586-024-07050-7. PMID: 38057664.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Inferring compound heterozygosity from large-scale exome sequencing data. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. PMID: 38057443; PMCID: PMC10872287.
Zöllner J, Finer S, Linton KJ; Genes and Health Research Team*; van Heel DA, Williamson C, Dixon PH. Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom. Sci Rep. 2023 May 19;13(1):8120. doi: 10.1038/s41598-023-33391-w. PMID: 37208429; PMCID: PMC10199085.
Kipkemoi P, Kim HA, Christ B, O'Heir E, Allen J, Austin-Tse C, Baxter S, Brand H, Bryant S, Buser N, de Menil V, Eastman E, Murugasen S, Galvin A, Kombe M, Ngombo A, Mkubwa B, Mwangi P, Kipkoech C, Lovgren A, MacArthur DG, Melly B, Mwangasha K, Martin A, Nkambule LL, Sanchis-Juan A, Singer-Berk M, Talkowski ME, VanNoy G, van der Merwe C; NeuroDev Project*; Newton C, O'Donnell-Luria A, Abubakar A, Donald KA, Robinson EB. Phenotype and genetic analysis of data collected within the first year of NeuroDev. Neuron. 2023 Sep 20;111(18):2800-2810.e5. doi: 10.1016/j.neuron.2023.06.010. Epub 2023 Jul 17. PMID: 37463579.
McGurk KA, Zhang X, Theotokis P, Thomson K, Harper A, Buchan RJ, Mazaika E, Ormondroyd E, Wright WT, Macaya D, Pua CJ, Funke B, MacArthur DG, Prasad SK, Cook SA, Allouba M, Aguib Y, Yacoub MH, O'Regan DP, Barton PJR, Watkins H, Bottolo L, Ware JS. The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings. Am J Hum Genet. 2023 Sep 7;110(9):1482-1495. doi: 10.1016/j.ajhg.2023.08.003. Epub 2023 Aug 30. PMID: 37652022; PMCID: PMC10502871.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby EG, England E, Wood JC, Son RG, Watts NA, Karczewski KJ, Harrison SM, MacArthur DG, Rehm HL, O'Donnell-Luria A. Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. Am J Hum Genet. 2023 Sep 7;110(9):1496-1508. doi: 10.1016/j.ajhg.2023.08.005. Epub 2023 Aug 25. PMID: 37633279; PMCID: PMC10502856.
Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O'Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O'Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. Am J Hum Genet. 2023 Sep 7;110(9):1454-1469. doi: 10.1016/j.ajhg.2023.07.010. Epub 2023 Aug 17. PMID: 37595579; PMCID: PMC10502737.
Hort Y, Sullivan P, Wedd L, Fowles L, Stevanovski I, Deveson I, Simons C, Mallett A, Patel C, Furlong T, Cowley MJ, Shine J, Mallawaarachchi A. Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD. NPJ Genom Med. 2023 Jul 7;8(1):16. doi: 10.1038/s41525-023-00362-z. PMID: 37419908; PMCID: PMC10328916.
Atkinson EG, Artomov M, Loboda AA, Rehm HL, MacArthur DG, Karczewski KJ, Neale BM, Daly MJ. Discordant calls across genotype discovery approaches elucidate variants with systematic errors. Genome Res. 2023 Jun;33(6):999-1005. doi: 10.1101/gr.277908.123. Epub 2023 May 30. PMID: 37253541; PMCID: PMC10519400.
Burley K, Fitzgibbon L, van Heel D; Genes & Health Research Team@EastLondonGenes; Vuckovic D, Mumford AD; Genes & Health Research Team*. PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry. Res Pract Thromb Haemost. 2023 May 14;7(4):100175. doi: 10.1016/j.rpth.2023.100175. PMID: 37538507; PMCID: PMC10394561.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. PMID: 36385166; PMCID: PMC9908558.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics*; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Erratum in: Nat Med. 2024 Jan;30(1):302. doi: 10.1038/s41591-023-02487-1. PMID: 36658419; PMCID: PMC10333122.
*Contribution by Daniel MacArthur as a member at the time of publication.
Karczewski KJ, Solomonson M, Chao KR, Goodrich JK, Tiao G, Lu W, Riley-Gillis BM, Tsai EA, Kim HI, Zheng X, Rahimov F, Esmaeeli S, Grundstad AJ, Reppell M, Waring J, Jacob H, Sexton D, Bronson PG, Chen X, Hu X, Goldstein JI, King D, Vittal C, Poterba T, Palmer DS, Churchhouse C, Howrigan DP, Zhou W, Watts NA, Nguyen K, Nguyen H, Mason C, Farnham C, Tolonen C, Gauthier LD, Gupta N, MacArthur DG, Rehm HL, Seed C, Philippakis AA, Daly MJ, Davis JW, Runz H, Miller MR, Neale BM. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes. Cell Genom. 2022 Aug 15;2(9):100168. doi: 10.1016/j.xgen.2022.100168. PMID: 36778668; PMCID: PMC9903662.
Glinos DA, Garborcauskas G, Hoffman P, Ehsan N, Jiang L, Gokden A, Dai X, Aguet F, Brown KL, Garimella K, Bowers T, Costello M, Ardlie K, Jian R, Tucker NR, Ellinor PT, Harrington ED, Tang H, Snyder M, Juul S, Mohammadi P, MacArthur DG, Lappalainen T, Cummings BB. Transcriptome variation in human tissues revealed by long-read sequencing. Nature. 2022 Aug;608(7922):353-359. doi: 10.1038/s41586-022-05035-y. Epub 2022 Aug 3. PMID: 35922509; PMCID: PMC10337767.
Cloney T, Gallacher L, Pais LS, Tan NB, Yeung A, Stark Z, Brown NJ, McGillivray G, Delatycki MB, de Silva MG, Downie L, Stutterd CA, Elliott J, Compton AG, Lovgren A, Oertel R, Francis D, Bell KM, Sadedin S, Lim SC, Helman G, Simons C, Macarthur DG, Thorburn DR, O'Donnell-Luria AH, Christodoulou J, White SM, Tan TY. Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. J Med Genet. 2022 Aug;59(8):748-758. doi: 10.1136/jmedgenet-2021-107902. Epub 2021 Nov 5. PMID: 34740920; PMCID: PMC9068835.
Merkle FT, Ghosh S, Genovese G, Handsaker RE, Kashin S, Meyer D, Karczewski KJ, O'Dushlaine C, Pato C, Pato M, MacArthur DG, McCarroll SA, Eggan K. Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation. Cell Stem Cell. 2022 Mar 3;29(3):472-486.e7. doi: 10.1016/j.stem.2022.01.011. Epub 2022 Feb 16. PMID: 35176222; PMCID: PMC8900618.
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COVID-19 Host Genetics Initiative*. Mapping the human genetic architecture of COVID-19. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. PMID: 34237774; PMCID: PMC8674144.
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Wang QS, Kelley DR, Ulirsch J, Kanai M, Sadhuka S, Cui R, Albors C, Cheng N, Okada Y; Biobank Japan Project; Aguet F, Ardlie KG, MacArthur DG, Finucane HK. Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs. Nat Commun. 2021 Jun 7;12(1):3394. doi: 10.1038/s41467-021-23134-8. PMID: 34099641; PMCID: PMC8184741.
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Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM; Care4Rare Canada Consortium; O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021 May;29(5):816-826. doi: 10.1038/s41431-020-00804-7. Epub 2021 Mar 1. PMID: 33649541; PMCID: PMC8110841.
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Bryen SJ, Oates EC, Evesson FJ, Lu JK, Waddell LB, Joshi H, Ryan MM, Cummings BB, McLean CA, MacArthur DG, Kornberg AJ, Cooper ST. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. Eur J Hum Genet. 2021 Jan;29(1):61-66. doi: 10.1038/s41431-020-00715-7. Epub 2020 Aug 29. PMID: 32862205; PMCID: PMC7852879.
*Contribution by Daniel MacArthur as a member at the time of publication.
Baple EL, Scott RH, Banka S, Buchanan J, Fish L, Wynn S, Wilkinson D, Ellard S, MacArthur DG, Stark Z. Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nat Med. 2024 Jul;30(7):1823-1825. doi: 10.1038/s41591-024-03055-x. PMID: 38898121.
Wright CF, Sharp LN, Jackson L, Murray A, Ware JS, MacArthur DG, Rehm HL, Patel KA, Weedon MN. Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts. Nat Genet. 2024 Jul 29. doi: 10.1038/s41588-024-01842-3. Epub ahead of print. PMID: 39075210.
Tanudisastro HA, Deveson IW, Dashnow H, MacArthur DG. Sequencing and characterizing short tandem repeats in the human genome. Nat Rev Genet. 2024 Jul;25(7):460-475. doi: 10.1038/s41576-024-00692-3. Epub 2024 Feb 16. PMID: 38366034.
Farbehi N, Neavin DR, Cuomo ASE, Studer L, MacArthur DG, Powell JE. Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases. Nat Genet. 2024 May;56(5):758-766. doi: 10.1038/s41588-024-01731-9. Epub 2024 May 13. PMID: 38741017.
Ingles J, MacArthur DG. The moral and practical urgency of increasing diversity in genomics. Eur Heart J. 2023 Dec 21;44(48):5157-5159. doi: 10.1093/eurheartj/ehad365. PMID: 37377076.
Cuomo ASE, Nathan A, Raychaudhuri S, MacArthur DG, Powell JE. Single-cell genomics meets human genetics. Nat Rev Genet. 2023 Aug;24(8):535-549. doi: 10.1038/s41576-023-00599-5. Epub 2023 Apr 21. PMID: 37085594; PMCID: PMC10784789.
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Dhindsa RS, Wang Q, Vitsios D, Burren OS, Hu F, DiCarlo JE, Kruglyak L, MacArthur DG, Hurles ME, Petrovski S. A minimal role for synonymous variation in human disease. Am J Hum Genet. 2022 Dec 1;109(12):2105-2109. doi: 10.1016/j.ajhg.2022.10.016. PMID: 36459978; PMCID: PMC9808499.
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Pais LS, Snow H, Weisburd B, Zhang S, Baxter SM, DiTroia S, O'Heir E, England E, Chao KR, Lemire G, Osei-Owusu I, VanNoy GE, Wilson M, Nguyen K, Arachchi H, Phu W, Solomonson M, Mano S, O'Leary M, Lovgren A, Babb L, Austin-Tse CA, Rehm HL, MacArthur DG, O'Donnell-Luria A. seqr: A web-based analysis and collaboration tool for rare disease genomics. Hum Mutat. 2022 Jun;43(6):698-707. doi: 10.1002/humu.24366. Epub 2022 Mar 21. PMID: 35266241; PMCID: PMC9903206.
Lappalainen T, MacArthur DG. From variant to function in human disease genetics. Science. 2021 Sep 24;373(6562):1464-1468. doi: 10.1126/science.abi8207. Epub 2021 Sep 23. PMID: 34554789.
Claussnitzer M, Cho JH, Collins R, Cox NJ, Dermitzakis ET, Hurles ME, Kathiresan S, Kenny EE, Lindgren CM, MacArthur DG, North KN, Plon SE, Rehm HL, Risch N, Rotimi CN, Shendure J, Soranzo N, McCarthy MI. A brief history of human disease genetics. Nature. 2020 Jan;577(7789):179-189. doi: 10.1038/s41586-019-1879-7. Epub 2020 Jan 8. PMID: 31915397; PMCID: PMC7405896.
CPG Reports (2023) Co-Design Workshops with NSW Filipino Australians: Outreach and communications to recruit participants to the OurDNA Program, Centre for Population Genomics, Garvan Institute of Medical Research & Murdoch Children's Research Institute, Sydney & Melbourne, Australia.
CPG Reports (2022) Diversity in genetic services and genomic datasets: A 2021 survey of clinical geneticists and genetic counsellors working in Australia, Centre for Population Genomics, Garvan Institute of Medical Research & Murdoch Children's Research Institute, Sydney & Melbourne, Australia.
Croy, S., Ambegaokar, M., & MacArthur, D. (2022). Towards an Inclusive Genomics (1.0). Zenodo. https://doi.org/10.5281/zenodo.6070378
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