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Items: 1 to 50 of 183

1.

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.

2.

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M; Care4Rare Canada Consortium, Boycott KM, Bastin P, Sheridan EG.

Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003.

PMID:
30388400
3.

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension.

McDonell LM, Leung GK, Daoud H, Ip J, Chim S, Luk HM, Lan L; Care4Rare Canada Consortium, Boycott KM, Chung BH.

Am J Med Genet A. 2018 Nov;176(11):2523-2527. doi: 10.1002/ajmg.a.40349. Epub 2018 Oct 5. No abstract available.

PMID:
30289595
4.

Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases.

Marshall DA, Benchimol EI, MacKenzie A, Duque DR, MacDonald KV, Hartley T, Howley H, Hamilton A, Gillespie M, Malam F, Boycott KM.

Genet Med. 2018 Sep 24. doi: 10.1038/s41436-018-0289-9. [Epub ahead of print]

PMID:
30245512
5.

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
6.

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
7.

Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.

Al Qawahmed R, Sawyer SL, Vassilyadi M, Qin W; Care4Rare Canada Consortium, Boycott KM, Michaud J.

Pediatr Dev Pathol. 2018 Aug 13:1093526618787736. doi: 10.1177/1093526618787736. [Epub ahead of print]

PMID:
30103666
8.

Registered access: authorizing data access.

Dyke SOM, Linden M, Lappalainen I, De Argila JR, Carey K, Lloyd D, Spalding JD, Cabili MN, Kerry G, Foreman J, Cutts T, Shabani M, Rodriguez LL, Haeussler M, Walsh B, Jiang X, Wang S, Perrett D, Boughtwood T, Matern A, Brookes AJ, Cupak M, Fiume M, Pandya R, Tulchinsky I, Scollen S, Törnroos J, Das S, Evans AC, Malin BA, Beck S, Brenner SE, Nyrönen T, Blomberg N, Firth HV, Hurles M, Philippakis AA, Rätsch G, Brudno M, Boycott KM, Rehm HL, Baudis M, Sherry ST, Kato K, Knoppers BM, Baker D, Flicek P.

Eur J Hum Genet. 2018 Dec;26(12):1721-1731. doi: 10.1038/s41431-018-0219-y. Epub 2018 Aug 2.

9.

Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).

Bourque PR, Warman-Chardon J, Lelli DA, LaBerge L, Kirshen C, Bradshaw SH, Hartley T, Boycott KM.

Neurol Genet. 2018 Jul 26;4(4):e263. doi: 10.1212/NXG.0000000000000263. eCollection 2018 Aug. No abstract available.

10.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium, Boycott KM, Kernohan KD, Dyack S, Raymond FL.

Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28.

11.

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

Ito YA, Smith AC, Kernohan KD, Pena IA, Ahmed A, McDonell LM, Beaulieu C, Bulman DE, Smidt A, Sawyer SL; Care4Rare Canada Consortium, Dyment DA, Boycott KM, Clericuzio CL.

Clin Genet. 2018 Oct;94(3-4):303-312. doi: 10.1111/cge.13388. Epub 2018 Jun 29.

PMID:
29851065
12.

Genome-wide sequencing technologies: A primer for paediatricians.

Hayeems RZ, Boycott KM.

Paediatr Child Health. 2018 May;23(3):191-197. doi: 10.1093/pch/pxx152. Epub 2017 Dec 2.

PMID:
29769805
13.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ.

Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.

14.

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.

Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R.

Hum Mol Genet. 2018 Jun 15;27(12):2187-2204. doi: 10.1093/hmg/ddy127.

15.

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV; Care4Rare Canada Consortium, Rodenburg RJ, Boycott KM, Penney LS.

J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20.

PMID:
29560582
16.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY.

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.

PMID:
29474920
17.

Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

Gillespie MK, Humphreys P, McMillan HJ, Boycott KM.

J Child Neurol. 2018 Apr;33(5):329-332. doi: 10.1177/0883073818756680. Epub 2018 Feb 8.

PMID:
29421991
18.

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM.

J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23.

19.

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

Aref-Eshghi E, Rodenhiser DI, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Hood RL, Bulman DE, Kernohan KD; Care4Rare Canada Consortium, Boycott KM, Campeau PM, Schwartz C, Sadikovic B.

Am J Hum Genet. 2018 Jan 4;102(1):156-174. doi: 10.1016/j.ajhg.2017.12.008.

20.

Mining the transcriptome for rare disease therapies: a comparison of the efficiencies of two data mining approaches and a targeted cell-based drug screen.

Mears AJ, Schock SC, Hadwen J, Putos S, Dyment D, Boycott KM, MacKenzie A.

NPJ Genom Med. 2017 Apr 24;2:14. doi: 10.1038/s41525-017-0018-3. eCollection 2017.

21.

A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.

Zambonin JL, Dyment DA, Xi Y, Lamont RE, Hartley T, Miller E, Kerr M; Care4Rare Canada Consortium, Boycott KM, Parboosingh JS, Venkateswaran S.

Neurogenetics. 2018 Jan;19(1):61-65. doi: 10.1007/s10048-017-0534-4. Epub 2017 Dec 15.

PMID:
29247375
22.

Addressing challenges in the diagnosis and treatment of rare genetic diseases.

Boycott KM, Ardigó D.

Nat Rev Drug Discov. 2018 Mar;17(3):151-152. doi: 10.1038/nrd.2017.246. Epub 2017 Dec 15.

PMID:
29242613
23.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Review.

PMID:
29214566
24.

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, Robinson PN, Dyment DA, Boycott KM.

Hum Mutat. 2018 Feb;39(2):197-201. doi: 10.1002/humu.23374. Epub 2017 Dec 14.

PMID:
29193559
25.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Lochmüller H, Torrent I Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM; IRDiRC Consortium Assembly.

Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20.

26.

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A.

Genetics. 2017 Dec;207(4):1501-1518. doi: 10.1534/genetics.117.300137. Epub 2017 Oct 23.

27.

Matchmaker Exchange.

Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B, Foreman J, Schiettecatte F, Groza T, Jacobsen JOB, Haendel MA, Boycott KM, Hamosh A, Rehm HL; Matchmaker Exchange Consortium.

Curr Protoc Hum Genet. 2017 Oct 18;95:9.31.1-9.31.15. doi: 10.1002/cphg.50.

28.

Fragile X testing as a second-tier test.

Hartley T, Potter R, Badalato L, Smith AC, Jarinova O, Boycott KM.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.147. Epub 2017 Sep 14. No abstract available.

PMID:
28914265
29.

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J; Members of the Undiagnosed Diseases Network (UDN), Hieter P, Boycott KM, Campeau PM, Bellen HJ.

Genetics. 2017 Sep;207(1):9-27. doi: 10.1534/genetics.117.203067. Review.

30.

Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.

Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D, Thomson D, Terry SF, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJS; International Rare Diseases Research Consortium (IRDiRC).

Clin Transl Sci. 2018 Jan;11(1):21-27. doi: 10.1111/cts.12500. Epub 2017 Oct 23. Review. No abstract available.

31.

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Dawkins HJS, Draghia-Akli R, Lasko P, Lau LPL, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Le Cam Y, Hivert V, Austin CP; International Rare Diseases Research Consortium (IRDiRC).

Clin Transl Sci. 2018 Jan;11(1):11-20. doi: 10.1111/cts.12501. Epub 2017 Oct 23. Review. No abstract available.

32.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, Horvath GA, Bareke E, Gillespie M; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Bulman DE, Dyment DA, Boycott KM.

Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12.

PMID:
28708278
33.

"Matching" consent to purpose: The example of the Matchmaker Exchange.

Dyke SOM, Knoppers BM, Hamosh A, Firth HV, Hurles M, Brudno M, Boycott KM, Philippakis AA, Rehm HL.

Hum Mutat. 2017 Oct;38(10):1281-1285. doi: 10.1002/humu.23278. Epub 2017 Jul 12.

34.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL; Care4Rare Canada Consortium, Dudding-Byth T, Boycott KM.

Orphanet J Rare Dis. 2017 Jun 28;12(1):121. doi: 10.1186/s13023-017-0672-7. Review.

35.

Yunis-Varón syndrome caused by biallelic VAC14 mutations.

Lines MA, Ito Y, Kernohan KD, Mears W, Hurteau-Miller J, Venkateswaran S, Ward L, Khatchadourian K, McClintock J, Bhola P; Care4Rare Consortium, Campeau PM, Boycott KM, Michaud J, van Kuilenburg AB, Ferdinandusse S, Dyment DA.

Eur J Hum Genet. 2017 Sep;25(9):1049-1054. doi: 10.1038/ejhg.2017.99. Epub 2017 Jun 21.

36.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

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.

Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.

PMID:
28633435
37.

H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.

Kernohan KD, Grynspan D, Ramphal R, Bareke E, Wang YC, Nizalik E; Care4Rare Canada Consortium, Ragoussis J, Jabado N, Boycott KM, Majewski J, Sawyer SL.

Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26633. Epub 2017 May 16.

PMID:
28509377
38.

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 May 9. doi: 10.1002/ajmg.a.38250. [Epub ahead of print]

PMID:
28488422
39.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

40.

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

Lacaria M, Srour M, Michaud JL, Doja A, Miller E, Schwartzentruber J, Goldsmith C, Majewski J; FORGE Canada Consortium, Boycott KM.

Am J Med Genet A. 2017 Jun;173(6):1611-1619. doi: 10.1002/ajmg.a.38231. Epub 2017 Apr 21.

PMID:
28432728
41.

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.

Au PYB, Huang L, Broley S, Gallagher L, Creede E, Lahey D, Ordorica S, Mina K, Boycott KM, Baynam G, Dyment DA.

Eur J Med Genet. 2017 Jul;60(7):359-364. doi: 10.1016/j.ejmg.2017.03.013. Epub 2017 Apr 1.

PMID:
28377321
42.

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium, Kinoshita T, Dyment DA, Boycott KM, Campeau PM.

Hum Mol Genet. 2017 May 1;26(9):1706-1715. doi: 10.1093/hmg/ddx077.

PMID:
28334793
43.

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.

Evans DR, Green JS, Johnson GJ, Schwartzentruber J, Majewski J, Beaulieu CL, Qin W, Marshall CR, Paton TA, Roslin NM, Paterson AD, Fahiminiya S, French J, Boycott KM, Woods MO; FORGE Canada Consortium.

Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1736-1742. doi: 10.1167/iovs.16-20864.

PMID:
28324114
44.

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.

Schenkel LC, Kernohan KD, McBride A, Reina D, Hodge A, Ainsworth PJ, Rodenhiser DI, Pare G, Bérubé NG, Skinner C, Boycott KM, Schwartz C, Sadikovic B.

Epigenetics Chromatin. 2017 Mar 10;10:10. doi: 10.1186/s13072-017-0118-4. eCollection 2017.

45.

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J.

Hum Mutat. 2017 Jun;38(6):611-614. doi: 10.1002/humu.23211. Epub 2017 Mar 28.

46.

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

Bhola PT, Hartley T, Bareke E; Care4Rare Canada Consortium, Boycott KM, Nikkel SM, Dyment DA.

J Hum Genet. 2017 Jun;62(6):661-663. doi: 10.1038/jhg.2017.18. Epub 2017 Feb 23.

PMID:
28228640
47.

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.

Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N; Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I.

Hum Mutat. 2017 May;38(5):511-516. doi: 10.1002/humu.23196. Epub 2017 Mar 6.

PMID:
28185376
48.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath GA, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont RE, Majewski J, Parboosingh JS, Prasad AN, Rupar CA, Schwartzentruber J, Smith AC, Tétreault M; FORGE Canada Consortium; Care4Rare Canada Consortium, Innes AM, Boycott KM.

Clin Genet. 2017 Sep;92(3):281-289. doi: 10.1111/cge.12987. Epub 2017 Mar 13.

PMID:
28170084
49.

When One Diagnosis Is Not Enough.

Boycott KM, Innes AM.

N Engl J Med. 2017 Jan 5;376(1):83-85. doi: 10.1056/NEJMe1614384. Epub 2016 Dec 7. No abstract available.

PMID:
27959696
50.

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA, Yoon G.

Neurol Genet. 2016 Dec 5;3(1):e122. eCollection 2017 Feb.

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