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Items: 1 to 50 of 322

1.

Dementia care in acute hospitals- A qualitative study on nurse managers' perceived challenges and solutions.

Scerri A, Innes A, Scerri C.

J Nurs Manag. 2019 Dec 31. doi: 10.1111/jonm.12941. [Epub ahead of print]

PMID:
31891204
2.

'Our voice started off as a whisper and now it is a great big roar': The Salford Dementia Associate Panel as a model of involvement in research activities.

Bowker R, Calvert L, Allcroft F, Bowker G, Foy P, Gandy J, Jones S, Bushell S, Clark A, Innes A.

Dementia (London). 2020 Jan;19(1):18-26. doi: 10.1177/1471301219874225. No abstract available.

PMID:
31875709
3.
4.

Cardiac glycosides are broad-spectrum senolytics.

Guerrero A, Herranz N, Sun B, Wagner V, Gallage S, Guiho R, Wolter K, Pombo J, Irvine EE, Innes AJ, Birch J, Glegola J, Manshaei S, Heide D, Dharmalingam G, Harbig J, Olona A, Behmoaras J, Dauch D, Uren AG, Zender L, Vernia S, Martínez-Barbera JP, Heikenwalder M, Withers DJ, Gil J.

Nat Metab. 2019 Nov;1(11):1074-1088. doi: 10.1038/s42255-019-0122-z. Epub 2019 Oct 21.

PMID:
31799499
5.
6.

A multi-species cluster of GES-5 carbapenemase producing Enterobacterales linked by a geographically disseminated plasmid.

Ellington MJ, Davies F, Jauneikaite E, Hopkins KL, Turton JF, Adams G, Pavlu J, Innes AJ, Eades C, Brannigan ET, Findlay J, White L, Bolt F, Kadhani T, Chow Y, Patel B, Mookerjee S, Otter JA, Sriskandan S, Woodford N, Holmes A.

Clin Infect Dis. 2019 Nov 20. pii: ciz1130. doi: 10.1093/cid/ciz1130. [Epub ahead of print]

PMID:
31746994
7.

Experiences of rural life among community-dwelling older men with dementia and their implications for social inclusion.

Hicks B, Innes A, Nyman SR.

Dementia (London). 2019 Nov 12:1471301219887586. doi: 10.1177/1471301219887586. [Epub ahead of print] No abstract available.

PMID:
31718267
8.

Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers-Authors' reply.

Pfeffer G, Innes AM, Shutt TE.

EBioMedicine. 2019 Nov;49:25. doi: 10.1016/j.ebiom.2019.09.047. Epub 2019 Oct 17. No abstract available.

9.

Person-centered dementia care in acute hospital wards-The influence of staff knowledge and attitudes.

Scerri A, Innes A, Scerri C.

Geriatr Nurs. 2019 Oct 17. pii: S0197-4572(19)30522-1. doi: 10.1016/j.gerinurse.2019.09.001. [Epub ahead of print]

PMID:
31630871
10.

Towards a Better Understanding of Cohesin Mutations in AML.

Cuartero S, Innes AJ, Merkenschlager M.

Front Oncol. 2019 Sep 9;9:867. doi: 10.3389/fonc.2019.00867. eCollection 2019. Review.

11.

Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.

Cocanougher BT, Flynn L, Yun P, Jain M, Waite M, Vasavada R, Wittenbach JD, de Chastonay S, Chhibber S, Innes AM, MacLaren L, Mozaffar T, Arai AE, Donkervoort S, Bönnemann CG, Foley AR.

Neurology. 2019 Oct 15;93(16):e1535-e1542. doi: 10.1212/WNL.0000000000008316. Epub 2019 Sep 20.

PMID:
31541013
12.

'Unlocking the door to being there': The contribution of creative facilitators in supporting people living with dementia to engage with heritage settings.

Scholar H, Innes A, Sharma M, Haragalova J.

Dementia (London). 2019 Sep 10:1471301219871388. doi: 10.1177/1471301219871388. [Epub ahead of print] No abstract available.

PMID:
31505949
13.

Complete remission with incomplete count recovery (CRi) prior to allogeneic HCT for acute myeloid leukaemia is associated with a high non-relapse mortality.

Innes AJ, Woolley P, Szydlo RM, Lozano S, Fernando F, Bansal D, Palanicawandar R, Milojkovic D, May PC, Nadal-Melsio E, Yebra-Fernandez E, Olavarria E, Apperley JF, Pavlů J.

Leukemia. 2019 Sep 2. doi: 10.1038/s41375-019-0572-z. [Epub ahead of print] No abstract available.

PMID:
31477799
14.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE.

Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29.

15.

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

Punetha J, Karaca E, Gezdirici A, Lamont RE, Pehlivan D, Marafi D, Appendino JP, Hunter JV, Akdemir ZC, Fatih JM, Jhangiani SN, Gibbs RA, Innes AM, Posey JE, Lupski JR.

Ann Clin Transl Neurol. 2019 Aug;6(8):1395-1406. doi: 10.1002/acn3.50824. Epub 2019 Jul 11.

16.

Correction: The value of diagnostic testing for parents of children with rare genetic diseases.

Marshall DA, MacDonald KV, Heidenreich S, Hartley T, Bernier FP, Gillespie MK, McInnes B, Innes AM, Armour CM, Boycott KM.

Genet Med. 2019 Nov;21(11):2662. doi: 10.1038/s41436-019-0615-x.

PMID:
31316168
17.

De novo substitutions of TRPM3 cause intellectual disability and epilepsy.

Dyment DA, Terhal PA, Rustad CF, Tveten K, Griffith C, Jayakar P, Shinawi M, Ellingwood S, Smith R, van Gassen K, McWalter K, Innes AM, Lines MA.

Eur J Hum Genet. 2019 Oct;27(10):1611-1618. doi: 10.1038/s41431-019-0462-x. Epub 2019 Jul 5.

18.

The value of diagnostic testing for parents of children with rare genetic diseases.

Marshall DA, MacDonald KV, Heidenreich S, Hartley T, Bernier FP, Gillespie MK, McInnes B, Innes AM, Armour CM, Boycott KM.

Genet Med. 2019 Dec;21(12):2798-2806. doi: 10.1038/s41436-019-0583-1. Epub 2019 Jun 26. Erratum in: Genet Med. 2019 Jul 18;:.

PMID:
31239560
19.

The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.

Almutawa W, Smith C, Sabouny R, Smit RB, Zhao T, Wong R, Lee-Glover L, Desrochers-Goyette J, Ilamathi HS; Care4Rare Canada Consortium, Suchowersky O, Germain M, Mains PE, Parboosingh JS, Pfeffer G, Innes AM, Shutt TE.

EBioMedicine. 2019 Jul;45:379-392. doi: 10.1016/j.ebiom.2019.06.018. Epub 2019 Jun 21.

20.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 May 2;10(1):2079. doi: 10.1038/s41467-019-10161-9.

21.

Stronger together: learning from an interdisciplinary dementia, arts and well-being network (DA&WN).

Tischler V, Schneider J, Morgner C, Crawford P, Dening T, Brooker D, Garabedian C, Myers T, Early F, Shaughnessy N, Innes A, Duncan K, Prashar A, McDermott O, Coaten R, Eland D, Harvey K.

Arts Health. 2019 Oct;11(3):272-277. doi: 10.1080/17533015.2018.1534252. Epub 2019 Feb 4.

PMID:
31038420
22.

(Re-) conceptualising vulnerability as a part of risk in global health emergency response: updating the pressure and release model for global health emergencies.

Hammer CC, Brainard J, Innes A, Hunter PR.

Emerg Themes Epidemiol. 2019 Apr 8;16:2. doi: 10.1186/s12982-019-0084-3. eCollection 2019.

23.

Au-Kline Syndrome.

Au PYB, Innes AM, Kline AD.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2019 Apr 18.

24.

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G.

Cell. 2019 Mar 21;177(1):32-37. doi: 10.1016/j.cell.2019.02.040.

PMID:
30901545
25.

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.

Zhao T, Goedhart CM, Sam PN, Sabouny R, Lingrell S, Cornish AJ, Lamont RE, Bernier FP, Sinasac D, Parboosingh JS; Care4Rare Canada Consortium, Vance JE, Claypool SM, Innes AM, Shutt TE.

Life Sci Alliance. 2019 Mar 11;2(2). pii: e201900353. doi: 10.26508/lsa.201900353. Print 2019 Apr.

26.

HIV-1 remission following CCR5Δ32/Δ32 haematopoietic stem-cell transplantation.

Gupta RK, Abdul-Jawad S, McCoy LE, Mok HP, Peppa D, Salgado M, Martinez-Picado J, Nijhuis M, Wensing AMJ, Lee H, Grant P, Nastouli E, Lambert J, Pace M, Salasc F, Monit C, Innes AJ, Muir L, Waters L, Frater J, Lever AML, Edwards SG, Gabriel IH, Olavarria E.

Nature. 2019 Apr;568(7751):244-248. doi: 10.1038/s41586-019-1027-4. Epub 2019 Mar 5.

27.

The contribution of visual attention and declining verbal memory abilities to age-related route learning deficits.

Grzeschik R, Conroy-Dalton R, Innes A, Shanker S, Wiener JM.

Cognition. 2019 Jun;187:50-61. doi: 10.1016/j.cognition.2019.02.012. Epub 2019 Feb 28.

28.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2019 Feb 15;10(1):883. doi: 10.1038/s41467-019-08800-2.

29.

39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting.

Boycott KM, Innes AM.

Am J Med Genet A. 2019 Feb 6:674-746. doi: 10.1002/ajmg.a.61063. [Epub ahead of print]

PMID:
30724471
30.

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS, Meuwissen ME, Monaghan KG, de Munnik SA, Nava C, Ockeloen CW, Pettinato R, Racher H, Rinne T, Romano C, Sanders VR, Schnur RE, Smeets EJ, Stegmann APA, Stray-Pedersen A, Sweetser DA, Terhal PA, Tveten K, VanNoy GE, de Vries PF, Waxler JL, Willing M, Pfundt R, Veltman JA, Kooy RF, Vissers LELM, de Vries BBA.

Eur J Hum Genet. 2019 May;27(5):738-746. doi: 10.1038/s41431-018-0292-2. Epub 2019 Jan 24.

PMID:
30679813
31.

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.

Krall M, Htun S, Schnur RE, Brooks AS, Baker L, de Alba Campomanes A, Lamont RE, Gripp KW; Care 4 Rare Canada Consortium, Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM.

Eur J Hum Genet. 2019 Apr;27(4):582-593. doi: 10.1038/s41431-018-0298-9. Epub 2019 Jan 8.

PMID:
30622326
32.

Unsolved recognizable patterns of human malformation: Challenges and opportunities.

Boycott KM, Dyment DA, Innes AM.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):382-386. doi: 10.1002/ajmg.c.31665.

PMID:
30580485
33.

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.

Innes AM, McInnes BL, Dyment DA.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):387-397. doi: 10.1002/ajmg.c.31661.

PMID:
30580484
34.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009. No abstract available.

35.

The perceived and observed needs of patients with dementia admitted to acute medical wards.

Scerri A, Scerri C, Innes A.

Dementia (London). 2018 Nov 27:1471301218814383. doi: 10.1177/1471301218814383. [Epub ahead of print]

PMID:
30482091
36.

IMR90 ER:RAS: A Cell Model of Oncogene-Induced Senescence.

Innes AJ, Gil J.

Methods Mol Biol. 2019;1896:83-92. doi: 10.1007/978-1-4939-8931-7_9.

PMID:
30474842
37.

Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.

Lamont RE, Xi Y, Popko C, Lazier J, Bernier FP, Lauzon JL, Innes AM, Parboosingh JS, Thomas MA.

J Obstet Gynaecol Can. 2018 Nov;40(11):1417-1423. doi: 10.1016/j.jogc.2018.02.002.

PMID:
30473118
38.

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Paré G, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B.

Nat Commun. 2018 Nov 20;9(1):4885. doi: 10.1038/s41467-018-07193-y.

39.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Erratum in: Nat Commun. 2019 Feb 15;10(1):883. Nat Commun. 2019 May 2;10(1):2079.

40.

Comparing ST-segment elevation myocardial infarction care between patients residing in central and remote locations: a retrospective case series.

Kamona A, Cunningham S, Addison B, Rushworth GF, Call A, Bloe C, Innes A, Bond RR, Peace A, Leslie SJ.

Rural Remote Health. 2018 Oct;18(4):4618. doi: 10.22605/RRH4618. Epub 2018 Oct 27.

41.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

42.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2018 Dec 6;103(6):1054-1055.

43.

Is PNPT1-related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1-related disorders.

Eaton A, Bernier FP, Goedhart C, Caluseriu O, Lamont RE, Boycott KM, Parboosingh JS, Innes AM; Care4Rare Canada Consortium.

Am J Med Genet A. 2018 Nov;176(11):2487-2493. doi: 10.1002/ajmg.a.40516. Epub 2018 Sep 23.

PMID:
30244537
44.

Four-year outcomes from a multiparametric magnetic resonance imaging (MRI)-based active surveillance programme: PSA dynamics and serial MRI scans allow omission of protocol biopsies.

Gallagher KM, Christopher E, Cameron AJ, Little S, Innes A, Davis G, Keanie J, Bollina P, McNeill A.

BJU Int. 2019 Mar;123(3):429-438. doi: 10.1111/bju.14513. Epub 2018 Oct 9.

PMID:
30113755
45.

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F.

Eur J Hum Genet. 2018 Dec;26(12):1752-1758. doi: 10.1038/s41431-018-0233-0. Epub 2018 Aug 8.

46.

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group, Oliveira JR, Garavaglia B, Coppola G, Nicolas G.

Eur J Hum Genet. 2018 Oct;26(10):1462-1477. doi: 10.1038/s41431-018-0185-4. Epub 2018 Jun 28.

47.

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium.

Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14. Review.

48.

Williams-Beuren syndrome in diverse populations.

Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M.

Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672.

49.

Impact of route and adequacy of nutritional intake on outcomes of allogeneic haematopoietic cell transplantation for haematologic malignancies.

Beckerson J, Szydlo RM, Hickson M, Mactier CE, Innes AJ, Gabriel IH, Palanicawandar R, Kanfer EJ, Macdonald DH, Milojkovic D, Rahemtulla A, Chaidos A, Karadimitris A, Olavarria E, Apperley JF, Pavlu J.

Clin Nutr. 2019 Apr;38(2):738-744. doi: 10.1016/j.clnu.2018.03.008. Epub 2018 Mar 28.

50.

GSTO1-1 plays a pro-inflammatory role in models of inflammation, colitis and obesity.

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