Related references
Note: Only part of the references are listed.Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability
Mbarka Bchetnia et al.
JOURNAL OF MEDICAL GENETICS (2021)
Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy
Katherine Kendig et al.
FRONTIERS IN GENETICS (2019)
Ethnicity-Based Carrier Screening
Jennifer R. King et al.
OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA (2018)
Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape
Kim C. A. Holtkamp et al.
BMC HEALTH SERVICES RESEARCH (2017)
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6
Hana Hartmannova et al.
HUMAN MOLECULAR GENETICS (2016)
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
Kalman Tory et al.
NATURE GENETICS (2014)
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis
Andrea Kerti et al.
PEDIATRIC NEPHROLOGY (2013)
Admixed Ancestry and Stratification of Quebec Regional Populations
Claude Bherer et al.
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY (2011)
Experience with Carrier Screening and Prenatal Diagnosis for 16 Ashkenazi Jewish Genetic Diseases
Stuart A. Scott et al.
HUMAN MUTATION (2010)
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
Inga Ebermann et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
The Association of Podocin R229Q Polymorphism With Increased Albuminuria or Reduced Estimated GFR in a Large Population-Based Sample of US Adults
Anna Koettgen et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2008)
An acadian variant of fanconi syndrome
Philip Wornell et al.
PEDIATRIC NEPHROLOGY (2007)
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
Inga Ebermann et al.
GENOME BIOLOGY (2007)
Share Paper
