Published Research Articles

2017

• Building a cancer genetics and prevention program - GI & Hepatology News, January 2017
• Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression - Familial Cancer, January 2017
• Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations - Heart, May 2017
• First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica - Neuromuscular Disorders, June 2017

2016

• Building a Cancer Genetics and Prevention Program - Clinical Gastroenterology and Hepatology, June 2016
• Paroxysmal Dyskinesia in Norwich Terrier Dogs - Movement Disorders, May 2016
• The Genetic Relationship between Anadromous and Resident Oncorhynchus mykiss at a Putative Barrier with Implications for Habitat Improvement - Transactions of the American Fisheries Society, March 2016
• Genetic anticipation in BRCA1/BRCA2 families after controlling for ascertainment bias and cohort effect  - Cancer, March 2016
• A computer-assisted method for pathogenicity assessment and genetic reporting of variants stored in the Australian Inherited Retinal Disease Register - Australasian Physical and Engineering Sciences in Medicine, January 2016
• Incidence and predictors of early adulthood pre-diabetes/type 2 diabetes, among Iranian adolescents: the Tehran Lipid and Glucose Study - Pediatric Diabetes, January 2016
• Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease - ScienceDirect, January 2016
  

2015

• Childhood-Onset Essential Hypertension and the Family Structure - The Journal of Clinical Hypertension, October 2015
• Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy - American Journal of Medical Genetics, May 2015
• Establishing a clinic-based pancreatic cancer and periampullary tumour research registry in Quebec - Current Oncology, April 2015
• Outcomes of a Pilot Intervention Study for Young Adults at Risk for Cardiovascular Disease Based on Their Family History - Journal of Cardiovascular Nursing, April 2015
• Recurrent Pregnancy Loss - Is It Advanced Age or Advanced Maternal Mother's Age of Young Women a Major Contributing Factor - IOSR Journal of Dental and Medical Sciences, April 2015
• Clinical characterization and mutation spectrum in Caribbean Hispanic families with Lynch syndrome - Familial Cancer, March 2015
• Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia - Respiratory and Critical Care Medicine, March 2015
• Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus - IVOS (Investigative Ophthalmology and Visual Science), March 2015
• Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy - Neurogenetics, January 2015

2014

• Metabolic heritability at birth: implications for chronic disease research - Human Genetics, August 2014
• Genetic Polymorphisms and Sepsis in Premature Neonates - Plos One, July 2014
• Changing clinical patterns and increasing prevalence in CADASIL - Acta Neurologica Scandinavica, May 2014
• Family Members of Patients with Abdominal Aortic Aneurysms Are at Increased Risk for Aneurysms: Analysis of 618 Probands and Their Families from the Liège AAA Family Study - Annals of Vascular Surgery, May 2014.
• Reproductive Fitness and Genetic Transmission of Tetralogy of Fallot in the Molecular Age - Circulation: Cardiovascular Genetics, February, 2014.

2013

• Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network - Journal of Clinical Oncology, January 2013.
• Genetic associations with neonatal thyroid-stimulating hormone levels - Pediatric Research, February 2013
• Iranian Breast Cancer Bio-Bank: the activity and challenging issues - Cell and Tissue Banking, March 2013.
• Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project - Journal of Genetic Counseling, April 2013.
• A molecular analysis and clinical follow up: a strategy for hereditary cancer prevention - The FASEB Journal, April 2013
• Re-Engineering a Small Oncology Practice for Quality Using the ASCO Quality Oncology Practice Initiative - Journal of Oncology Practice, May 2013.
• Genetic associations of relaxin: preterm birth and premature rupture of fetal membranes - American Journal of Obstetrics & Gynecology, May 2013
• A proposed method to predict preterm birth using clinical data, standard maternal serum screening, and cholesterol - American Journal of Obstetrics & Gynecology, June 2013
• A validation of parentage-based tagging using hatchery steelhead in the Snake River basin - Canadian Journal of Fisheries and Aquatic Sciences, July 2013.
• Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation - European Journal of Human Genetics, August 2013.
• A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank - Alzheimer's & Dementia, August 2013.

2012

• Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36 - Genes, Brains and Behavior, December 2012.
• The heritability of metabolic profiles in newborn twins - Heredity - November, 2012
• Protective Locus Against Renal Scarring on Chromosome 11 in Affected Sib Pairs with Familial Vesicoureteral Reflux Identified by Single Nucleotide Polymorphism Linkage Analysis - Journal of Urology, October 2012
• Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population - Journal of Perinatology - September 2012
• Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project - Journal of Genetic Counseling, August 2012
• Rule-based induction method for haplotype comparison and identification of candidate disease loci - Genome Medicine, April 2012
• Genome-wide association study in RPGRIP1 −/− dogs identifies a modifier locus that determines the onset of retinal degeneration - Mammalian Genome, February 2012.
• Genetic polymorphisms in carnitine palmitoyltransferase 1A gene are associated with variation in body composition and fasting lipid traits in Yup'ik Eskimos - Journal of Lipid Research - January 2012
• Low disease prevalence and inappropriate implantable cardioverter defibrillator shock rate in Brugada syndrome: a nationwide study - Europace, January 2012
• Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study - Journal of Medical Genetics, January 2012

Citing Progeny in Research Articles

The following methods of citation may be used when citing Progeny in any academic or scholarly research publication.

• Pedigree Citation
  Pedigrees were constructed and drawn using (Progeny Clinical Version N/Progeny Lab Version N) (Progeny Genetics LLC, Aliso Viejo, CA, www.progenygenetics.com).
  
• Family Data Citation
  Family data and pedigree information was stored and manipulated using the genetic data management system (Progeny Clinical Version N/Progeny Lab Version N) from Progeny Genetics (Progeny Genetics LLC, Aliso Viejo, CA, www.progenygenetics.com).
• Family History Questionnaire
  Family history data and pedigrees were gathered and managed using the online family history questionnaire (Progeny FHQ) from Progeny Genetics (Progeny Genetics LLC, Aliso Viejo, CA, www.progenygenetics.com).
• LINKAGE Analysis
  Family data, pedigree information, genetic marker and genotype data was stored, manipulated and error-checked using the genetic data management system (Progeny Clinical Version N/Progeny Lab Version N) from Progeny Genetics (Progeny Genetics LLC, Aliso Viejo, CA, www.progenygenetics.com) prior to export to (Enter LINKAGE software).
  
• Association Analysis
  Individual data, genetic marker and genotype data was stored, manipulated and error-checked using the genetic data management system (Progeny Clinical Version N/Progeny Lab Version N) from Progeny Genetics (Progeny Genetics LLC, Aliso Viejo, CA, www.progenygenetics.com) prior to export to (Enter ASSOCIATION software).
  
• Family Based Association (for haplotype display)
  Pedigree and individual information was combined with marker and genotype data using the genetic data management system (Progeny Clinical Version N/Progeny Lab Version N) from Progeny Genetics (Progeny Genetics LLC, Aliso Viejo, CA, www.progenygenetics.com) to display the haplotypes on the pedigree.
• Sample Tracking
  Samples were tracked and managed using Progeny LIMS Version N (Progeny Genetics LLC, Aliso Viejo, CA, www.progenygenetics.com).