Calculating variant penetrance from family history of disease and average family size in population-scale data

[1]  Timothy A. Miller,et al.  The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration , 2022, Nature Communications.

[2]  Aleksey Shatunov,et al.  The genetic architecture of ALS , 2020, Neurobiology of Disease.

[3]  Christiaan Monden,et al.  When does family size matter? Sibship size, socioeconomic status and education in England , 2020, Evolutionary Human Sciences.

[4]  W. Seeger,et al.  Call it by the correct name - pulmonary hypertension not pulmonary arterial hypertension. , 2020, American journal of physiology. Lung cellular and molecular physiology.

[5]  Tania Moerenhout,et al.  Criteria for reporting incidental findings in clinical exome sequencing – a focus group study on professional practices and perspectives in Belgian genetic centres , 2019, BMC medical genomics.

[6]  S. Newhouse,et al.  C9orf72 intermediate expansions of 24–30 repeats are associated with ALS , 2019, Acta Neuropathologica Communications.

[7]  Matthew S. Lebo,et al.  Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk , 2019, Genetics in Medicine.

[8]  G. Patrinos,et al.  The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database , 2019, Neurobiology of Aging.

[9]  S. Newhouse,et al.  ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients , 2019, Amyotrophic lateral sclerosis & frontotemporal degeneration.

[10]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[11]  Caroline F. Wright,et al.  Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting , 2018, bioRxiv.

[12]  Naomi R. Wray,et al.  The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public , 2018, bioRxiv.

[13]  N. Pearce,et al.  The multistep hypothesis of ALS revisited , 2018, Neurology.

[14]  J. Rowe,et al.  Genetic screening in sporadic ALS and FTD , 2017, Journal of Neurology, Neurosurgery, and Psychiatry.

[15]  A. Chiò,et al.  Age-related penetrance of the C9orf72 repeat expansion , 2017, Scientific Reports.

[16]  A. Al-Chalabi,et al.  Genetic testing in ALS , 2017, Neurology.

[17]  Zhi-rui Zhou,et al.  Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis , 2017, Journal of Neurology, Neurosurgery & Psychiatry.

[18]  W. Chung,et al.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics , 2016, Genetics in Medicine.

[19]  J. Rowe,et al.  Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes , 2016, Neurology.

[20]  Stephen Kaptoge,et al.  BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis , 2016, The Lancet. Respiratory medicine.

[21]  Patrick F. Sullivan,et al.  Quantifying prion disease penetrance using large population control cohorts , 2016, Science Translational Medicine.

[22]  H. Blum,et al.  Clinical Interpretation and Implications of Whole Genome Sequencing , 2014 .

[23]  Euan A Ashley,et al.  Clinical interpretation and implications of whole-genome sequencing. , 2014, JAMA.

[24]  O. Hardiman,et al.  Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: A population‐based case–control cohort study of familial and sporadic amyotrophic lateral sclerosis , 2013, Annals of neurology.

[25]  A. Chiò,et al.  Genetic counselling in ALS: facts, uncertainties and clinical suggestions , 2013, Journal of Neurology Neurosurgery & Psychiatry.

[26]  Nick C Fox,et al.  Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. , 2013, American journal of human genetics.

[27]  J. Newman,et al.  Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. , 2012, American journal of respiratory and critical care medicine.

[28]  S. Archer,et al.  Evolving epidemiology of pulmonary arterial hypertension. , 2012, American journal of respiratory and critical care medicine.

[29]  Leonard H van den Berg,et al.  Evidence for an oligogenic basis of amyotrophic lateral sclerosis. , 2012, Human molecular genetics.

[30]  Olubunmi Abel,et al.  ALSoD: A user‐friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics , 2012, Human mutation.

[31]  A. Horimoto,et al.  Penetrance rate estimation in autosomal dominant conditions , 2012, Genetics and molecular biology.

[32]  Janel O. Johnson,et al.  Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study , 2012, The Lancet Neurology.

[33]  C. Magnani,et al.  Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease , 2011, Movement disorders : official journal of the Movement Disorder Society.

[34]  C. Lewis,et al.  Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease , 2011, Human Heredity.

[35]  B. Hamilton,et al.  Childbearing differences among three generations of U.S. women. , 2011, NCHS data brief.

[36]  Hadley Wickham,et al.  The Split-Apply-Combine Strategy for Data Analysis , 2011 .

[37]  C. Tanner,et al.  Familial aggregation of Parkinson's disease in a multiethnic community‐based case‐control study , 2010, Movement disorders : official journal of the Movement Disorder Society.

[38]  O. Hardiman,et al.  Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis , 2010, Journal of Neurology, Neurosurgery & Psychiatry.

[39]  Ifan G. Hughes,et al.  Measurements and their Uncertainties: A practical guide to modern error analysis , 2010 .

[40]  M. Hernán,et al.  Incidence and lifetime risk of motor neuron disease in the United Kingdom: a population‐based study , 2009, European journal of neurology.

[41]  E. Tolosa,et al.  Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study , 2008, The Lancet Neurology.

[42]  Hadley Wickham,et al.  Reshaping Data with the reshape Package , 2007 .

[43]  M. Humbert,et al.  BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension , 2006, Human mutation.

[44]  Jane S. Paulsen,et al.  A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length , 2004, Clinical genetics.

[45]  T J Ulahannan,et al.  Decision Making in Health and Medicine: Integrating Evidence and Values , 2002 .

[46]  C. Tzourio,et al.  Familial aggregation of Parkinson’s disease , 1999, Neurology.

[47]  H. Horvitz,et al.  Epidemiology of mutations in superoxide dismutase in amyotrophic lateal sclerosis , 1997, Annals of neurology.

[48]  Cedric E. Ginestet.  ggplot2: Elegant Graphics for Data Analysis , 2011 .

[49]  P. Andersen.  Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene , 2006, Current neurology and neuroscience reports.

[50]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..