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Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program. J Med Genet. 2021 Nov 05.
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. PMID: 34740920.
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Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes. Eur J Hum Genet. 2021 Oct 28.
Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL, Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R, Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M, Belaud-Rotureau MA, Touraine P, Jaillard S, Sinclair AH. PMID: 34707299.
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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss. Hum Genet. 2021 Oct 13.
Ullah F, Rauf W, Khan K, Khan S, Bell KM, de Oliveira VC, Tariq M, Bakhshalizadeh S, Touraine P, Katsanis N, Sinclair A, He S, Tucker EJ, Baig SM, Davis EE. PMID: 34647195.
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Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. Hum Mol Genet. 2021 Sep 07.
Van Bergen NJ, Bell KM, Carey K, Gear R, Massey S, Murrell EK, Gallacher L, Pope K, Lockhart PJ, Kornberg A, Pais L, Walkiewicz M, Simons C, MCRI Rare Diseases Flagship, Wickramasinghe VO, White SM, Christodoulou J. PMID: 34494102.
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STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia. Mol Hum Reprod. 2020 09 01; 26(9):665-677.
Jaillard S, McElreavy K, Robevska G, Akloul L, Ghieh F, Sreenivasan R, Beaumont M, Bashamboo A, Bignon-Topalovic J, Neyroud AS, Bell K, Veron-Gastard E, Launay E, van den Bergen J, Nouyou B, Vialard F, Belaud-Rotureau MA, Ayers KL, Odent S, Ravel C, Tucker EJ, Sinclair AH. PMID: 32634216.
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3 Fields:
Translation:
Humans
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New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing. Maturitas. 2020 Nov; 141:9-19.
Jaillard S, Bell K, Akloul L, Walton K, McElreavy K, Stocker WA, Beaumont M, Harrisson C, Jääskeläinen T, Palvimo JJ, Robevska G, Launay E, Satié AP, Listyasari N, Bendavid C, Sreenivasan R, Duros S, van den Bergen J, Henry C, Domin-Bernhard M, Cornevin L, Dejucq-Rainsford N, Belaud-Rotureau MA, Odent S, Ayers KL, Ravel C, Tucker EJ, Sinclair AH. PMID: 33036707.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM). Hum Genet. 2020 Oct; 139(10):1325-1343.
Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. PMID: 32399598.
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6 Fields:
Translation:
HumansCells
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Publisher Correction: The role of cardiac transcription factor NKX2-5 in regulating the human cardiac miRNAome. Sci Rep. 2019 Dec 27; 9(1):20269.
Arasaratnam D, Bell KM, Sim CB, Koutsis K, Anderson DJ, Qian EL, Stanley EG, Elefanty AG, Cheung MM, Oshlack A, White AJ, Abi Khalil C, Hudson JE, Porrello ER, Elliott DA. PMID: 31882788; PMCID: PMC6934776.
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The role of cardiac transcription factor NKX2-5 in regulating the human cardiac miRNAome. Sci Rep. 2019 11 04; 9(1):15928.
Arasaratnam D, Bell KM, Sim CB, Koutsis K, Anderson DJ, Qian EL, Stanley EG, Elefanty AG, Cheung MM, Oshlack A, White AJ, Abi Khalil C, Hudson JE, Porrello ER, Elliott DA. PMID: 31685864; PMCID: PMC6828809.
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HumansCells
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Familial bilateral cryptorchidism is caused by recessive variants in RXFP2. J Med Genet. 2019 11; 56(11):727-733.
Ayers K, Kumar R, Robevska G, Bruell S, Bell K, Malik MA, Bathgate RA, Sinclair A. PMID: 31167797; PMCID: PMC6860408.
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3 Fields:
Translation:
HumansCells
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TP63-truncating variants cause isolated premature ovarian insufficiency. Hum Mutat. 2019 07; 40(7):886-892.
Tucker EJ, Jaillard S, Grover SR, van den Bergen J, Robevska G, Bell KM, Sadedin S, Hanna C, Dulon J, Touraine P, Sinclair AH. PMID: 30924587.
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8 Fields:
Translation:
HumansCells
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ADAMTS-9 in Mouse Cartilage Has Aggrecanase Activity That Is Distinct from ADAMTS-4 and ADAMTS-5. Int J Mol Sci. 2019 Jan 29; 20(3).
Rogerson FM, Last K, Golub SB, Gauci SJ, Stanton H, Bell KM, Fosang AJ. PMID: 30699963; PMCID: PMC6387038.
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PubMed Mentions:
6 Fields:
Translation:
AnimalsCells
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NKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network. Nat Commun. 2018 04 10; 9(1):1373.
Anderson DJ, Kaplan DI, Bell KM, Koutsis K, Haynes JM, Mills RJ, Phelan DG, Qian EL, Leitoguinho AR, Arasaratnam D, Labonne T, Ng ES, Davis RP, Casini S, Passier R, Hudson JE, Porrello ER, Costa MW, Rafii A, Curl CL, Delbridge LM, Harvey RP, Oshlack A, Cheung MM, Mummery CL, Petrou S, Elefanty AG, Stanley EG, Elliott DA. PMID: 29636455; PMCID: PMC5893543.
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23 Fields:
Translation:
HumansCells
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Cartilage MicroRNA Dysregulation During the Onset and Progression of Mouse Osteoarthritis Is Independent of Aggrecanolysis and Overlaps With Candidates From End-Stage Human Disease. Arthritis Rheumatol. 2018 03; 70(3):383-395.
Kung LHW, Ravi V, Rowley L, Angelucci C, Fosang AJ, Bell KM, Little CB, Bateman JF. PMID: 29145712.
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PubMed Mentions:
10 Fields:
Translation:
HumansAnimals
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Comprehensive Expression Analysis of microRNAs and mRNAs in Synovial Tissue from a Mouse Model of Early Post-Traumatic Osteoarthritis. Sci Rep. 2017 12 18; 7(1):17701.
Kung LHW, Ravi V, Rowley L, Bell KM, Little CB, Bateman JF. PMID: 29255152; PMCID: PMC5735155.
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PubMed Mentions:
8 Fields:
Translation:
AnimalsCells
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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. JAMA Pediatr. 2017 09 01; 171(9):855-862.
Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM. PMID: 28759686; PMCID: PMC5710405.
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78 Fields:
Translation:
Humans
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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain. 2017 Aug 01; 140(8):2093-2103.
Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H. PMID: 28633435.
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5 Fields:
Translation:
HumansCells
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Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. Ann Clin Transl Neurol. 2017 05; 4(5):318-325.
Walsh M, Bell KM, Chong B, Creed E, Brett GR, Pope K, Thorne NP, Sadedin S, Georgeson P, Phelan DG, Day T, Taylor JA, Sexton A, Lockhart PJ, Kiers L, Fahey M, Macciocca I, Gaff CL, Oshlack A, Yiu EM, James PA, Stark Z, Ryan MM, Melbourne Genomics Health Alliance. PMID: 28491899; PMCID: PMC5420808.
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8 Fields:
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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genet Med. 2016 11; 18(11):1090-1096.
Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor DJ, Savarirayan R, McGillivray G, Downie L, Ekert PG, Theda C, James PA, Yaplito-Lee J, Ryan MM, Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack A, Sadedin S, Georgeson P, Anderson C, Thorne N, Gaff C, White SM. PMID: 26938784.
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113 Fields:
Translation:
Humans
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XBP1-Independent UPR Pathways Suppress C/EBP-β Mediated Chondrocyte Differentiation in ER-Stress Related Skeletal Disease. PLoS Genet. 2015 Sep; 11(9):e1005505.
Cameron TL, Bell KM, Gresshoff IL, Sampurno L, Mullan L, Ermann J, Glimcher LH, Boot-Handford RP, Bateman JF. PMID: 26372225; PMCID: PMC4651170.
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PubMed Mentions:
15 Fields:
Translation:
AnimalsCells
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Purification and Transcriptomic Analysis of Mouse Fetal Leydig Cells Reveals Candidate Genes for Specification of Gonadal Steroidogenic Cells. Biol Reprod. 2015 Jun; 92(6):145.
McClelland KS, Bell K, Larney C, Harley VR, Sinclair AH, Oshlack A, Koopman P, Bowles J. PMID: 25855264.
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PubMed Mentions:
15 Fields:
Translation:
AnimalsCells
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Exploring the role of Natural Helpers in efforts to address disparities for children with conduct problems. Child Youth Serv Rev. 2014 May 01; 40:1-5.
Acevedo-Polakovich ID, Niec LN, Barnett ML, Bell KM, Aguilar G, Vilca J, Abbenante-Honold ES, Christian AS, Peer SO. PMID: 24910488; PMCID: PMC4041872.
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Views on sex and sex education among gang-involved Latino youth in the United States. Qual Health Res. 2014 May; 24(5):654-64.
Kassab VA, Acevedo-Polakovich ID, Grzybowski MM, Stout S, Richards AE, Barnett ML, Guerra-Morales A, Bell KM, Crider EA, Beck KL, Brookins-Fisher J, Alfaro M, Saxena SR. PMID: 24705683.
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PubMed Mentions:
1 Fields:
Translation:
Humans
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Incorporating Natural Helpers to Address Service Disparities for Young Children with Conduct Problems. Child Youth Serv Rev. 2013 Sep; 35(9):1463-1467.
Acevedo-Polakovich ID, Niec LN, Barnet ML, Bell KM. PMID: 24729649; PMCID: PMC3979433.
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PubMed Mentions:
6
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Transcriptomics of wild-type mice and mice lacking ADAMTS-5 activity identifies genes involved in osteoarthritis initiation and cartilage destruction. Arthritis Rheum. 2013 Jun; 65(6):1547-60.
Bateman JF, Rowley L, Belluoccio D, Chan B, Bell K, Fosang AJ, Little CB. PMID: 23436205.
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PubMed Mentions:
25 Fields:
Translation:
AnimalsCells
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A distinct DNA methylation signature defines pediatric pre-B cell acute lymphoblastic leukemia. Epigenetics. 2012 Jun 01; 7(6):535-41.
Wong NC, Ashley D, Chatterton Z, Parkinson-Bates M, Ng HK, Halemba MS, Kowalczyk A, Bedo J, Wang Q, Bell K, Algar E, Craig JM, Saffery R. PMID: 22531296.
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PubMed Mentions:
23 Fields:
Translation:
HumansCells
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IL-11 is a parietal cell cytokine that induces atrophic gastritis. Gut. 2012 Oct; 61(10):1398-409.
Howlett M, Chalinor HV, Buzzelli JN, Nguyen N, van Driel IR, Bell KM, Fox JG, Dimitriadis E, Menheniott TR, Giraud AS, Judd LM. PMID: 22180059; PMCID: PMC3471558.
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PubMed Mentions:
22 Fields:
Translation:
HumansAnimalsCells
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Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy. PLoS One. 2011; 6(9):e24600.
Cameron TL, Bell KM, Tatarczuch L, Mackie EJ, Rajpar MH, McDermott BT, Boot-Handford RP, Bateman JF. PMID: 21935428; PMCID: PMC3174197.
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PubMed Mentions:
29 Fields:
Translation:
AnimalsCells
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Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One. 2011 Mar 07; 6(3):e17793.
White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A. PMID: 21408189; PMCID: PMC3049794.
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PubMed Mentions:
40 Fields:
Translation:
HumansAnimalsCells
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A novel gastrokine, Gkn3, marks gastric atrophy and shows evidence of adaptive gene loss in humans. Gastroenterology. 2010 May; 138(5):1823-35.
Menheniott TR, Peterson AJ, O'Connor L, Lee KS, Kalantzis A, Kondova I, Bontrop RE, Bell KM, Giraud AS. PMID: 20138039.
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PubMed Mentions:
27 Fields:
Translation:
HumansAnimalsCells
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Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia. Am J Hum Genet. 2008 Mar; 82(3):786-93.
Tan JT, Kremer F, Freddi S, Bell KM, Baker NL, Lamandé SR, Bateman JF. PMID: 18304492; PMCID: PMC2427218.
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PubMed Mentions:
11 Fields:
Translation:
HumansAnimalsCells
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G2/M checkpoint gene expression in developing germ cells. Mol Reprod Dev. 2007 May; 74(5):531-8.
Hasthorpe S, Tainton K, Peart M, Roeszler KN, Bell KM, Lusby PE, Hutson JM, Tymms MJ. PMID: 17290426.
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PubMed Mentions:
3 Fields:
Translation:
AnimalsCells
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Gene expression changes during step-wise differentiation of embryonic stem cells along the inner ear hair cell pathway. Acta Otolaryngol. 2006 Dec; 126(11):1148-57.
De Silva MG, Hildebrand MS, Christopoulos H, Newman MR, Bell K, Ritchie M, Smyth GK, Dahl HH. PMID: 17050306.
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PubMed Mentions:
3 Fields:
Translation:
AnimalsCells
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High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs. Am J Hum Genet. 2005 Nov; 77(5):709-26.
Slater HR, Bailey DK, Ren H, Cao M, Bell K, Nasioulas S, Henke R, Choo KH, Kennedy GC. PMID: 16252233; PMCID: PMC1271402.
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PubMed Mentions:
30 Fields:
Translation:
HumansCells
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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest. 2004 Sep; 114(6):837-45.
Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR. PMID: 15372108; PMCID: PMC516258.
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PubMed Mentions:
71 Fields:
Translation:
HumansCells