Francois P Bernier

Francois P Bernier

UNVERIFIED PROFILE

Are you Francois P Bernier?   Register this Author

Register author
Francois P Bernier

Francois P Bernier

Publications by authors named "Francois P Bernier"

Are you Francois P Bernier?   Register this Author

47Publications

1160Reads

35Profile Views

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

Genet Med 2019 Jul 18. Epub 2019 Jul 18.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0615-xDOI Listing
July 2019

Maternal exposure to arsenic and mercury in small-scale gold mining areas of Northern Tanzania.

Environ Res 2019 Jun 19;173:432-442. Epub 2019 Mar 19.

Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, 3280 Hospital Drive NW, Calgary, AB, T2N 4Z6, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, 28 Oki Drive NW, Calgary, AB, T3A 6A8, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Room 294, Heritage Medical Research Building, 3330 Hospital Drive, NW, Calgary, AB, T2N 4N1, Canada. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00139351193015
Publisher Site
http://dx.doi.org/10.1016/j.envres.2019.03.031DOI Listing
June 2019

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

Genet Med 2019 Jun 26. Epub 2019 Jun 26.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0583-1DOI Listing
June 2019

The developmental-genetics of canalization.

Semin Cell Dev Biol 2019 Apr 24;88:67-79. Epub 2018 May 24.

Dept. of Orthopaedic Surgery, School of Medicine, University of California San Francisco, San Francisco, CA, 94110, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semcdb.2018.05.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251770PMC
April 2019

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

Life Sci Alliance 2019 04 11;2(2). Epub 2019 Mar 11.

Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada

View Article

Download full-text PDF

Source
http://dx.doi.org/10.26508/lsa.201900353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412922PMC
April 2019

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

Am J Med Genet A 2018 11 23;176(11):2487-2493. Epub 2018 Sep 23.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40516DOI Listing
November 2018

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

J Obstet Gynaecol Can 2018 11;40(11):1417-1423

Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB; Alberta Children's Hospital Research Institute, Calgary, AB. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jogc.2018.02.002DOI Listing
November 2018

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

Prenat Diagn 2017 Jun 23;37(6):602-610. Epub 2017 May 23.

Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Calgary, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5058DOI Listing
June 2017

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

Am J Med Genet A 2017 May 28;173(5):1452. Epub 2017 Mar 28.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38227DOI Listing
May 2017

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

Am J Med Genet A 2017 Mar 27;173(3):596-600. Epub 2016 Sep 27.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, SK, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37983DOI Listing
March 2017

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

Am J Med Genet A 2016 Mar 22;170(3):760-5. Epub 2015 Dec 22.

Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37514DOI Listing
March 2016

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Am J Hum Genet 2015 Dec 19;97(6):862-8. Epub 2015 Nov 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678428PMC
December 2015

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

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

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ncb3201
Publisher Site
http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

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

BMC Med Genet 2014 Jul 16;15:82. Epub 2014 Jul 16.

Department of Pathology (Cytogenetics), BC Child and Family Research Institute, University of British Columbia (UBC), 950 West 28th, Room 3060, Vancouver, BC V5Z 4H4, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-15-82DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107469PMC
July 2014

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

Nat Commun 2014 Jul 22;5:4483. Epub 2014 Jul 22.

1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ncomms5483
Publisher Site
http://dx.doi.org/10.1038/ncomms5483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109005PMC
July 2014

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

Pediatrics 2014 May 14;133(5):e1396-400. Epub 2014 Apr 14.

Section of Neurology, and Departments of Pediatrics.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2012-3539DOI Listing
May 2014

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

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

Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, British Columbia, Canada; Child and Family Research Institute, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23206DOI Listing
February 2014

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

Matern Child Nutr 2014 Jan 17;10(1):44-60. Epub 2012 Jul 17.

Department of Paediatrics, University of Calgary, Calgary, Alberta, Canada Department of Community Health Sciences, University of Calgary, Calgary, Alberta, Canada Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, Alberta, Canada Department of Family Medicine, University of Alberta, Edmonton, Alberta, Canada Department of Family Medicine, University of Calgary, Calgary, Alberta, Canada Department of Primary Health Care, University of Tilburg, Tilburg, The Netherlands Department of Psychiatry, University of Calgary, Calgary, Alberta, Canada Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada Department of Public Health and Community Medicine, Tufts University, Boston, Massachusetts, USA Department of Teaching & Research Support, University of Groningen, The Netherlands Clinical & Developmental Neuropsychology, University of Groningen, The Netherlands Department of Paediatrics, University of Alberta, Edmonton, Alberta, Canada Faculty of Nursing, University of Calgary, Calgary, Alberta, Canada Department of Lab Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1740-8709.2012.00433.xDOI Listing
January 2014

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

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

1Faculties of Nursing and Medicine (Pediatrics), University of Calgary, Norlien.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1099800412463602DOI Listing
January 2014

The changing prevalence of autism in three regions of Canada.

J Autism Dev Disord 2014 Jan;44(1):120-36

Department of Public Health Sciences, Queen's University, Carruthers Hall, Kingston, ON, K7L 3N6, Canada,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10803-013-1856-1DOI Listing
January 2014

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

Am J Med Genet A 2013 Nov 24;161A(11):2855-9. Epub 2013 Sep 24.

Department of Medical Genetics, University of Calgary, Calgary, AB, Canada; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36172DOI Listing
November 2013

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

Am J Med Genet A 2013 Sep 2;161A(9):2311-5. Epub 2013 Aug 2.

Department of Pediatric Genetics, Akdeniz University School of Medicine, Antalya, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36051DOI Listing
September 2013

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

Am J Med Genet A 2013 May 26;161A(5):1148-53. Epub 2013 Mar 26.

Department of Medical Genetics, University of Ottawa, Ottawa, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35827DOI Listing
May 2013

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

Appl Physiol Nutr Metab 2013 Jan 22;38(1):85-9. Epub 2012 Nov 22.

Department of Pediatrics, University of Calgary, Calgary, AB T3B 6A8, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1139/apnm-2012-0080DOI Listing
January 2013

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

J Genet Couns 2011 Jun 21;20(3):249-69. Epub 2011 Apr 21.

Calgary Breast Health Program, Alberta Health Services, Calgary, AB, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-010-9344-7DOI Listing
June 2011

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

Am J Med Genet A 2009 Dec;149A(12):2855-9

Division of Pediatric Oncology and Bone Marrow Transplantation, Alberta Children's Hospital, 2888 Shaganappi Trail NW, Calgary, AB, Canada T3B 6A8.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33119DOI Listing
December 2009

Suitability of rapid aneuploidy detection for prenatal diagnosis.

J Obstet Gynaecol Can 2008 Sep;30(9):781-787

Department of Obstetrics and Gynaecology, University of Calgary, Calgary AB.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1701-2163(16)32942-5DOI Listing
September 2008

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

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

Department of Medical Genetics, Alberta Children's Hospital and University of Calgary, Calgary, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31832DOI Listing
August 2007

The geneticist's role in adult congenital heart disease.

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

Department of Medical Genetics, University of Calgary, Alberta Children's Hospital, 1820 Richmond Road, SW Calgary, AB T2T5C7, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ccl.2006.08.001DOI Listing
November 2006

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

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

Department of Medical Genetics, University of Calgary, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1135DOI Listing
April 2005