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Items: 1 to 50 of 55

1.

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.

2.

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
3.

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
4.

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.

PMID:
30089828
5.

The developmental-genetics of canalization.

Hallgrimsson B, Green RM, Katz DC, Fish JL, Bernier FP, Roseman CC, Young NM, Cheverud JM, Marcucio RS.

Semin Cell Dev Biol. 2019 Apr;88:67-79. doi: 10.1016/j.semcdb.2018.05.019. Epub 2018 May 24. Review.

PMID:
29782925
6.

Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.

Bone KM, Chernos JE, Perrier R, Innes AM, Bernier FP, McLeod R, Thomas MA.

Prenat Diagn. 2017 Jun;37(6):602-610. doi: 10.1002/pd.5058. Epub 2017 May 23.

PMID:
28437579
7.

Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG.

Am J Med Genet A. 2017 May;173(5):1452. doi: 10.1002/ajmg.a.38227. Epub 2017 Mar 28. No abstract available.

PMID:
28371264
8.

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
9.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F.

J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6.

10.

Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

Smith C, Parboosingh JS, Boycott KM, Bönnemann CG, Mah JK; Care4Rare Canada Consortium, Lamont RE, Micheil Innes A, Bernier FP.

Clin Genet. 2017 Mar;91(3):426-430. doi: 10.1111/cge.12876. Epub 2017 Jan 30.

PMID:
27684565
11.

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG.

Am J Med Genet A. 2017 Mar;173(3):596-600. doi: 10.1002/ajmg.a.37983. Epub 2016 Sep 27.

PMID:
27671926
12.

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.

Mosca SJ, Langevin LM, Dewey D, Innes AM, Lionel AC, Marshall CC, Scherer SW, Parboosingh JS, Bernier FP.

J Med Genet. 2016 Dec;53(12):812-819. doi: 10.1136/jmedgenet-2016-103818. Epub 2016 Aug 3.

PMID:
27489308
13.

Expansion of phenotype and genotypic data in CRB2-related syndrome.

Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM.

Eur J Hum Genet. 2016 Oct;24(10):1436-44. doi: 10.1038/ejhg.2016.24. Epub 2016 Mar 23. Review.

14.

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.

Smith C, Lamont RE, Wade A, Bernier FP, Parboosingh JS, Innes AM.

Am J Med Genet A. 2016 Mar;170(3):760-5. doi: 10.1002/ajmg.a.37514. Epub 2015 Dec 22.

PMID:
26691894
15.

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Shamseldin H, Alazami AM, Manning M, Hashem A, Caluseiu O, Tabarki B, Esplin E, Schelley S, Innes AM, Parboosingh JS, Lamont R; Care4Rare Canada Consortium, Majewski J, Bernier FP, Alkuraya FS.

Am J Hum Genet. 2015 Dec 3;97(6):862-8. doi: 10.1016/j.ajhg.2015.10.012. Epub 2015 Nov 19.

16.

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.

17.

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM.

Hum Mutat. 2015 Oct;36(10):1015-9. doi: 10.1002/humu.22843. Epub 2015 Aug 17.

18.

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M; Care for Rare Canada Consortium, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD.

Hum Mutat. 2015 Oct;36(10):1009-1014. doi: 10.1002/humu.22837. Epub 2015 Aug 6.

19.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.

Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.

20.

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R.

Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30.

21.

Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.

Aldinger KA, Mosca SJ, Tétreault M, Dempsey JC, Ishak GE, Hartley T, Phelps IG, Lamont RE, O'Day DR, Basel D, Gripp KW, Baker L, Stephan MJ, Bernier FP, Boycott KM, Majewski J; University of Washington Center for Mendelian Genomics; Care4Rare Canada, Parboosingh JS, Innes AM, Doherty D.

Am J Hum Genet. 2014 Aug 7;95(2):227-34. doi: 10.1016/j.ajhg.2014.07.007. Erratum in: Am J Hum Genet. 2014 Oct 2;95(4):472.

22.

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP.

Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483.

23.

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E.

BMC Med Genet. 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82.

24.

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW; FORGE Canada Consortium, Friedman JM, Michaud JL, Boycott KM.

Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003.

25.

Baroreflex failure, sympathetic storm, and cerebral vasospasm in fibulin-4 cutis laxa.

Rajapakse T, Mineyko A, Chee C, Subramaniam S, Dicke F, Bernier FP, Kirton A.

Pediatrics. 2014 May;133(5):e1396-400. doi: 10.1542/peds.2012-3539. Epub 2014 Apr 14.

26.

Validation of congenital anomaly coding in Canada's administrative databases compared with a congenital anomaly registry.

Metcalfe A, Sibbald B, Lowry RB, Tough S, Bernier FP.

Birth Defects Res A Clin Mol Teratol. 2014 Feb;100(2):59-66. doi: 10.1002/bdra.23206. Epub 2013 Dec 4.

PMID:
24307632
27.

The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.

Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, Innes AM.

Am J Med Genet A. 2013 Nov;161A(11):2855-9. doi: 10.1002/ajmg.a.36172. Epub 2013 Sep 24.

PMID:
24108658
28.

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.

Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E.

Am J Med Genet A. 2013 Sep;161A(9):2311-5. doi: 10.1002/ajmg.a.36051. Epub 2013 Aug 2.

PMID:
23913624
29.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE.

Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.

30.

The changing prevalence of autism in three regions of Canada.

Ouellette-Kuntz H, Coo H, Lam M, Breitenbach MM, Hennessey PE, Jackman PD, Lewis ME, Dewey D, Bernier FP, Chung AM.

J Autism Dev Disord. 2014 Jan;44(1):120-36. doi: 10.1007/s10803-013-1856-1.

PMID:
23771514
31.

Longer term survival of a child with autosomal recessive cutis laxa due to a mutation in FBLN4.

Sawyer SL, Dicke F, Kirton A, Rajapkse T, Rebeyka IM, McInnes B, Parboosingh JS, Bernier FP.

Am J Med Genet A. 2013 May;161A(5):1148-53. doi: 10.1002/ajmg.a.35827. Epub 2013 Mar 26.

PMID:
23532871
32.

Increasing the quality of life from womb to grave: the importance of pregnancy and birth cohorts.

Kaplan BJ, Leung BM, Giesbrecht GF, Field CJ, Bernier FP, Tough S, Cui X, Dewey D; APrON Study Team.

Appl Physiol Nutr Metab. 2013 Jan;38(1):85-9. doi: 10.1139/apnm-2012-0080. Epub 2012 Nov 22. Review.

PMID:
23368833
33.

How do interactions between early caregiving environment and genes influence health and behavior?

Letourneau N, Giesbrecht GF, Bernier FP, Joschko J.

Biol Res Nurs. 2014 Jan;16(1):83-94. doi: 10.1177/1099800412463602. Epub 2012 Oct 24.

PMID:
23099559
34.

Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM, Lee B, Bacino CA, Michaud JL, Bernier FP; FORGE Canada Consortium, Parboosingh JS, Innes AM.

Hum Mutat. 2013 Jan;34(1):97-102. doi: 10.1002/humu.22222. Epub 2012 Nov 9. Erratum in: Hum Mutat. 2013 Apr;34(4):667.

PMID:
23033274
35.

The Alberta Pregnancy Outcomes and Nutrition (APrON) cohort study: rationale and methods.

Kaplan BJ, Giesbrecht GF, Leung BM, Field CJ, Dewey D, Bell RC, Manca DP, O'Beirne M, Johnston DW, Pop VJ, Singhal N, Gagnon L, Bernier FP, Eliasziw M, McCargar LJ, Kooistra L, Farmer A, Cantell M, Goonewardene L, Casey LM, Letourneau N, Martin JW; APrON Study Team.

Matern Child Nutr. 2014 Jan;10(1):44-60. doi: 10.1111/j.1740-8709.2012.00433.x. Epub 2012 Jul 17.

PMID:
22805165
36.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS.

Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26.

37.

Correlates of age at diagnosis of autism spectrum disorders in six Canadian regions.

Coo H, Ouellette-Kuntz H, Lam M, Yu CT, Dewey D, Bernier FP, Chudley AE, Hennessey PE, Breitenbach MM, Noonan AL, Lewis ME, Holden JJ.

Chronic Dis Inj Can. 2012 Mar;32(2):90-100.

38.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM.

Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005.

39.

Distress and psychosocial needs of a heterogeneous high risk familial cancer population.

Power TE, Robinson JW, Bridge P, Bernier FP, Gilchrist DM.

J Genet Couns. 2011 Jun;20(3):249-69. doi: 10.1007/s10897-010-9344-7. Epub 2011 Apr 21.

PMID:
21509653
40.

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor.

Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP.

Am J Med Genet A. 2009 Dec;149A(12):2855-9. doi: 10.1002/ajmg.a.33119.

PMID:
19938088
41.

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.

42.

Suitability of rapid aneuploidy detection for prenatal diagnosis.

Sparkes RL, Bernier FP, Chernos JE, Johnson JM.

J Obstet Gynaecol Can. 2008 Sep;30(9):781-787. doi: 10.1016/S1701-2163(16)32942-5.

PMID:
18845047
43.

Clinical genetics and the Hutterite population: a review of Mendelian disorders.

Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM.

Am J Med Genet A. 2008 Apr 15;146A(8):1088-98. doi: 10.1002/ajmg.a.32245. Review.

PMID:
18348266
44.

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis.

Shetty S, Boycott KM, Gillan TL, Bowser K, Parboosingh JS, McInnes B, Chernos JE, Bernier FP.

Clin Dysmorphol. 2007 Oct;16(4):253-6.

PMID:
17786117
45.

Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM.

Am J Med Genet A. 2007 Aug 1;143A(15):1715-25.

PMID:
17603801
46.

The geneticist's role in adult congenital heart disease.

Bernier FP, Spaetgens R.

Cardiol Clin. 2006 Nov;24(4):557-69, v-vi. Review.

PMID:
17098511
47.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP.

J Med Genet. 2006 May;43(5):385-93. Epub 2005 Jul 31.

48.

Developmental outcome of children who had choroid plexus cysts detected prenatally.

Bernier FP, Crawford SG, Dewey D.

Prenat Diagn. 2005 Apr;25(4):322-6.

PMID:
15849792
49.

Bowen-Conradi syndrome: a clinical and genetic study.

Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE, Chodirker B, Marles SL, Crumley MJ, Loredo-Osti JC, Morgan K, Fujiwara TM.

Am J Med Genet A. 2003 Jul 30;120A(3):423-8.

PMID:
12838567
50.

Diagnostic criteria for respiratory chain disorders in adults and children.

Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR.

Neurology. 2002 Nov 12;59(9):1406-11.

PMID:
12427892

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