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Items: 50

1.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.

Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D.

Genet Med. 2019 Sep 2. doi: 10.1038/s41436-019-0645-4. [Epub ahead of print]

PMID:
31474763
2.

Application of Hereditary Renal Cell Carcinoma Risk Criteria to a Large Prospective Database.

Kushnir I, Kirk L, Mallick R, Kim RH, Graham GE, Breau RH, Lattouf JB, Violette PD, Pautler SE, Care M, Kapoor A, Jewett MAS, Wood L, Tanguay S, Heng DYC, Basappa NS, So A, Pouliot F, Reaume NM.

Clin Oncol (R Coll Radiol). 2019 Aug 1. pii: S0936-6555(19)30290-0. doi: 10.1016/j.clon.2019.07.010. [Epub ahead of print]

PMID:
31378448
3.

A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care.

Bhola PT, Liddy C, Afkham A, Keely E, Graham GE.

Eur J Hum Genet. 2019 Jul;27(7):1026-1032. doi: 10.1038/s41431-019-0342-4. Epub 2019 Feb 18.

PMID:
30778171
4.

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.

Kernohan KD, Hartley T, Naumenko S, Armour CM, Graham GE, Nikkel SM, Lines M, Geraghty MT, Richer J, Mears W, Boycott KM, Dyment DA.

Am J Med Genet A. 2018 Jul;176(7):1688-1691. doi: 10.1002/ajmg.a.38838. No abstract available.

PMID:
30160830
5.

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.

6.

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).

Bhola PT, Gilpin C, Smith A, Graham GE.

Fam Cancer. 2018 Oct;17(4):615-620. doi: 10.1007/s10689-018-0076-4.

PMID:
29423582
7.

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

Malam F, Hartley T, Gillespie MK, Armour CM, Bariciak E, Graham GE, Nikkel SM, Richer J, Sawyer SL, Boycott KM, Dyment DA.

Am J Med Genet A. 2017 Jul;173(7):1839-1847. doi: 10.1002/ajmg.a.38250. Epub 2017 May 9.

PMID:
28488422
8.

Congenital Trismus From Brainstem Dysgenesis: Case Report and Review of Literature.

Hong CJ, Caulley L, Kohlert S, Graham GE, McMillan HJ, Michaud J, Vaccani JP.

Pediatrics. 2016 Jul;138(1). pii: e20154605. doi: 10.1542/peds.2015-4605. Epub 2016 Jun 2. Review.

9.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA.

CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30.

10.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Lowther C, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS.

Genet Med. 2017 Jan;19(1):53-61. doi: 10.1038/gim.2016.54. Epub 2016 May 19.

11.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.

12.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G.

Am J Med Genet A. 2015 Sep;167A(9):2085-97. doi: 10.1002/ajmg.a.37128. Epub 2015 Apr 25.

13.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS.

Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26.

14.

Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey.

Violette PD, Kamel-Reid S, Graham GE, Reaume MN, Jewett MA, Care M, Basiuk J, Pautler SE.

Can Urol Assoc J. 2014 Nov;8(11-12):E832-40. doi: 10.5489/cuaj.2415.

15.

Tuberculous granuloma: a rare cause of a non-healing ulcer.

Graham GE, Jones R, Derry D.

BMJ Case Rep. 2014 Nov 19;2014. pii: bcr2014205899. doi: 10.1136/bcr-2014-205899.

16.

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E; FORGE Canada Consortium, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE.

J Med Genet. 2014 Jul;51(7):470-4. doi: 10.1136/jmedgenet-2013-102218. Epub 2014 Apr 4.

PMID:
24706940
17.

Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience.

Götherström C, Westgren M, Shaw SW, Aström E, Biswas A, Byers PH, Mattar CN, Graham GE, Taslimi J, Ewald U, Fisk NM, Yeoh AE, Lin JL, Cheng PJ, Choolani M, Le Blanc K, Chan JK.

Stem Cells Transl Med. 2014 Feb;3(2):255-64. doi: 10.5966/sctm.2013-0090. Epub 2013 Dec 16.

18.

Canadian guideline on genetic screening for hereditary renal cell cancers.

Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, Maher ER, Pause A, Ruether D, Soulieres D, Tanguay S, Turcotte S, Violette PD, Wood L, Basiuk J, Pautler SE; Kidney Cancer Research Network of Canada.

Can Urol Assoc J. 2013 Sep-Oct;7(9-10):319-23. doi: 10.5489/cuaj.1496.

19.

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

Bode A, Wood SE, Mullins JG, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJ, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW.

J Biol Chem. 2013 Nov 22;288(47):33745-59. doi: 10.1074/jbc.M113.509240. Epub 2013 Oct 9.

20.

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA.

Clin Genet. 2014 Feb;85(2):138-46. doi: 10.1111/cge.12116. Epub 2013 Apr 2.

21.

Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.

Carroll JC, Rideout A, Wilson BJ, Allanson J, Blaine S, Esplen MJ, Farrell S, Graham GE, MacKenzie J, Meschino WS, Prakash P, Shuman C, Taylor S, Tobin S.

Can Fam Physician. 2013 Jan;59(1):e39-47.

22.

Severe craniosynostosis in an infant with deletion 22q11.2 syndrome.

Al-Hertani W, Hastings VA, McGowan-Jordan J, Hurteau J, Graham GE.

Am J Med Genet A. 2013 Jan;161A(1):153-7. doi: 10.1002/ajmg.a.35491. Epub 2012 Dec 13.

PMID:
23239640
23.

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ.

J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14.

24.

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE.

Eur J Hum Genet. 2011 Nov;19(11):1144-51. doi: 10.1038/ejhg.2011.97. Epub 2011 Jun 1.

25.

Hyperekplexia: treatment of a severe phenotype and review of the literature.

Mineyko A, Whiting S, Graham GE.

Can J Neurol Sci. 2011 May;38(3):411-6. Review.

PMID:
21515498
26.

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE.

Am J Med Genet A. 2011 Apr;155A(4):706-16. doi: 10.1002/ajmg.a.33884. Epub 2011 Mar 15.

27.

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.

Argiropoulos B, Carter M, Brierley K, Hare H, Bouchard A, Al-Hertani W, Ryan SR, Reid J, Basik M, McGowan-Jordan J, Graham GE.

Am J Med Genet A. 2011 Apr;155A(4):885-91. doi: 10.1002/ajmg.a.33918. Epub 2011 Mar 17.

PMID:
21416596
28.

Safety, tolerability, and clinical outcomes after intraarticular injection of a recombinant adeno-associated vector containing a tumor necrosis factor antagonist gene: results of a phase 1/2 Study.

Mease PJ, Wei N, Fudman EJ, Kivitz AJ, Schechtman J, Trapp RG, Hobbs KF, Greenwald M, Hou A, Bookbinder SA, Graham GE, Wiesenhutter CW, Willis L, Ruderman EM, Forstot JZ, Maricic MJ, Dao KH, Pritchard CH, Fiske DN, Burch FX, Prupas HM, Anklesaria P, Heald AE.

J Rheumatol. 2010 Apr;37(4):692-703. doi: 10.3899/jrheum.090817. Epub 2009 Dec 23.

PMID:
20032102
29.

Genetic education for primary care providers: improving attitudes, knowledge, and confidence.

Carroll JC, Rideout AL, Wilson BJ, Allanson JM, Blaine SM, Esplen MJ, Farrell SA, Graham GE, MacKenzie J, Meschino W, Miller F, Prakash P, Shuman C, Summers A, Taylor S.

Can Fam Physician. 2009 Dec;55(12):e92-9.

30.

Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.

Carter MT, Picketts DJ, Hunter AG, Graham GE.

Am J Med Genet A. 2009 Feb;149A(2):246-50. doi: 10.1002/ajmg.a.32624.

PMID:
19161141
31.

A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome.

Kogan CS, Boutet I, Cornish K, Graham GE, Berry-Kravis E, Drouin A, Milgram NW.

J Intellect Disabil Res. 2009 Feb;53(2):125-42. doi: 10.1111/j.1365-2788.2008.01135.x. Epub 2008 Nov 27.

PMID:
19054268
32.

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.

Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E.

Mol Cytogenet. 2008 Nov 11;1:23. doi: 10.1186/1755-8166-1-23.

33.

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP.

Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750.

PMID:
18470948
34.

The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.

Armstrong L, Graham GE, Schimke RN, Collins DL, Kirse DJ, Costello F, Ardinger HH.

Am J Med Genet A. 2008 Jan 1;146A(1):83-92. Review.

PMID:
17972300
35.

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ.

Nat Genet. 2006 Jul;38(7):801-6. Epub 2006 Jun 4.

36.

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, McLeod DR, Graham GE, Mangold E, Santer R, Propping P, Friedl W.

Hum Mutat. 2005 Dec;26(6):513-9.

PMID:
16287113
37.

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT.

Pediatr Res. 2005 Nov;58(5):981-6. Epub 2005 Sep 23.

PMID:
16183809
38.

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome.

Vallée D, Chevrier E, Graham GE, Lazzaro MA, Lavigne PA, Hunter AG, Picketts DJ.

J Med Genet. 2004 Oct;41(10):778-83. No abstract available.

39.

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE.

Am J Med Genet. 2002 Jun 15;110(2):103-8.

PMID:
12116246
40.

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.

Lowry RB, Jabs EW, Graham GE, Gerritsen J, Fleming J.

Am J Med Genet. 2001 Nov 22;104(2):112-9.

PMID:
11746040
41.

Further evidence for genetic heterogeneity in familial hemophagocytic lymphohistiocytosis (FHLH).

Graham GE, Graham LM, Bridge PJ, Maclaren LD, Wolff JEA, Coppes MJ, Egeler RM.

Pediatr Res. 2000 Aug;48(2):227-32.

PMID:
10926299
42.
43.

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.

Am J Hum Genet. 1999 Jun;64(6):1570-9.

44.

Dyskeratosis congenita: an autosomal recessive variant.

Elliott AM, Graham GE, Bernstein M, Mazer B, Teebi AS.

Am J Med Genet. 1999 Mar 19;83(3):178-82.

PMID:
10096592
45.

Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C.

Am J Med Genet. 1998 Dec 4;80(4):399-402.

PMID:
9856571
46.

King syndrome: further clinical variability and review of the literature.

Graham GE, Silver K, Arlet V, Der Kaloustian VM.

Am J Med Genet. 1998 Jul 7;78(3):254-9. Review.

PMID:
9677061
47.

Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome.

Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR.

Cancer Res. 1998 Jul 1;58(13):2724-6.

49.

Intraoperative straight-leg raising during laminectomy and disk excision for sciatica.

Graham GE.

Clin Orthop Relat Res. 1981 Jan-Feb;(154):343-4.

PMID:
7471586
50.

Relationship of chemical structure and solvent to in vivo scintigraphic distribution patterns of 11C compounds. II. 11C aminonitriles.

Winstead MB, Widner PJ, Means JL, Engstrom MA, Graham GE, Khentigan A, Lin TH, Lamb JF, Winchell HS.

J Nucl Med. 1975 Nov;16(11):1049-57.

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