
OpenAlex is a bibliographic catalogue of scientific papers, authors and institutions accessible in open access mode, named after the Library of Alexandria. It's citation coverage is excellent and I hope you will find utility in this listing of citing articles!
If you click the article title, you'll navigate to the article, as listed in CrossRef. If you click the Open Access links, you'll navigate to the "best Open Access location". Clicking the citation count will open this listing for that article. Lastly at the bottom of the page, you'll find basic pagination options.
Requested Article:
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
D.N. Cooper, Michael Krawczak, Constantin Polychronakos, et al.
Human Genetics (2013) Vol. 132, Iss. 10, pp. 1077-1130
Open Access | Times Cited: 609
D.N. Cooper, Michael Krawczak, Constantin Polychronakos, et al.
Human Genetics (2013) Vol. 132, Iss. 10, pp. 1077-1130
Open Access | Times Cited: 609
Showing 1-25 of 609 citing articles:
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov, Brian J. O’Roak, Stephan Sanders, et al.
Nature (2014) Vol. 515, Iss. 7526, pp. 216-221
Open Access | Times Cited: 2499
Ivan Iossifov, Brian J. O’Roak, Stephan Sanders, et al.
Nature (2014) Vol. 515, Iss. 7526, pp. 216-221
Open Access | Times Cited: 2499
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
Peter D. Stenson, Matthew Mort, Edward V. Ball, et al.
Human Genetics (2013) Vol. 133, Iss. 1, pp. 1-9
Open Access | Times Cited: 1302
Peter D. Stenson, Matthew Mort, Edward V. Ball, et al.
Human Genetics (2013) Vol. 133, Iss. 1, pp. 1-9
Open Access | Times Cited: 1302
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson, Matthew Mort, Edward V. Ball, et al.
Human Genetics (2017) Vol. 136, Iss. 6, pp. 665-677
Open Access | Times Cited: 1290
Peter D. Stenson, Matthew Mort, Edward V. Ball, et al.
Human Genetics (2017) Vol. 136, Iss. 6, pp. 665-677
Open Access | Times Cited: 1290
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Laurent C. Francioli, Androniki Menelaou, Sara L. Pulit, et al.
Nature Genetics (2014) Vol. 46, Iss. 8, pp. 818-825
Open Access | Times Cited: 691
Laurent C. Francioli, Androniki Menelaou, Sara L. Pulit, et al.
Nature Genetics (2014) Vol. 46, Iss. 8, pp. 818-825
Open Access | Times Cited: 691
Quantifying prion disease penetrance using large population control cohorts
Eric Vallabh Minikel, Sonia M. Vallabh, Monkol Lek, et al.
Science Translational Medicine (2016) Vol. 8, Iss. 322
Open Access | Times Cited: 417
Eric Vallabh Minikel, Sonia M. Vallabh, Monkol Lek, et al.
Science Translational Medicine (2016) Vol. 8, Iss. 322
Open Access | Times Cited: 417
Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
Laurie Robak, Iris E. Jansen, Jeroen van Rooij, et al.
Brain (2017) Vol. 140, Iss. 12, pp. 3191-3203
Open Access | Times Cited: 396
Laurie Robak, Iris E. Jansen, Jeroen van Rooij, et al.
Brain (2017) Vol. 140, Iss. 12, pp. 3191-3203
Open Access | Times Cited: 396
Autism genes converge on asynchronous development of shared neuron classes
Bruna Paulsen, Silvia Velasco, Amanda J. Kedaigle, et al.
Nature (2022) Vol. 602, Iss. 7896, pp. 268-273
Open Access | Times Cited: 309
Bruna Paulsen, Silvia Velasco, Amanda J. Kedaigle, et al.
Nature (2022) Vol. 602, Iss. 7896, pp. 268-273
Open Access | Times Cited: 309
Emerging Role of Precision Medicine in Cardiovascular Disease
Jane A. Leopold, Joseph Loscalzo
Circulation Research (2018) Vol. 122, Iss. 9, pp. 1302-1315
Open Access | Times Cited: 274
Jane A. Leopold, Joseph Loscalzo
Circulation Research (2018) Vol. 122, Iss. 9, pp. 1302-1315
Open Access | Times Cited: 274
Making sense of big data in health research: Towards an EU action plan
Charles Auffray, Rudi Balling, Inês Barroso, et al.
Genome Medicine (2016) Vol. 8, Iss. 1
Open Access | Times Cited: 272
Charles Auffray, Rudi Balling, Inês Barroso, et al.
Genome Medicine (2016) Vol. 8, Iss. 1
Open Access | Times Cited: 272
A biological classification of Parkinson's disease: the SynNeurGe research diagnostic criteria
Günter U. Höglinger, Charles H. Adler, Daniela Berg, et al.
The Lancet Neurology (2024) Vol. 23, Iss. 2, pp. 191-204
Closed Access | Times Cited: 242
Günter U. Höglinger, Charles H. Adler, Daniela Berg, et al.
The Lancet Neurology (2024) Vol. 23, Iss. 2, pp. 191-204
Closed Access | Times Cited: 242
Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
Jean‐Laurent Casanova, Mary Ellen Conley, Stephen Seligman, et al.
The Journal of Experimental Medicine (2014) Vol. 211, Iss. 11, pp. 2137-2149
Open Access | Times Cited: 235
Jean‐Laurent Casanova, Mary Ellen Conley, Stephen Seligman, et al.
The Journal of Experimental Medicine (2014) Vol. 211, Iss. 11, pp. 2137-2149
Open Access | Times Cited: 235
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk
Stephane E. Castel, Alejandra Cervera, Pejman Mohammadi, et al.
Nature Genetics (2018) Vol. 50, Iss. 9, pp. 1327-1334
Open Access | Times Cited: 202
Stephane E. Castel, Alejandra Cervera, Pejman Mohammadi, et al.
Nature Genetics (2018) Vol. 50, Iss. 9, pp. 1327-1334
Open Access | Times Cited: 202
Microglia Polarization with M1/M2 Phenotype Changes in rd1 Mouse Model of Retinal Degeneration
Tian Zhou, Zijing Huang, Xiaowei Sun, et al.
Frontiers in Neuroanatomy (2017) Vol. 11
Open Access | Times Cited: 197
Tian Zhou, Zijing Huang, Xiaowei Sun, et al.
Frontiers in Neuroanatomy (2017) Vol. 11
Open Access | Times Cited: 197
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Caroline F. Wright, Ben C. West, Marcus A. Tuke, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 2, pp. 275-286
Open Access | Times Cited: 193
Caroline F. Wright, Ben C. West, Marcus A. Tuke, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 2, pp. 275-286
Open Access | Times Cited: 193
Transgenerational inheritance: how impacts to the epigenetic and genetic information of parents affect offspring health
Miguel J. Xavier, Shaun D. Roman, R. John Aitken, et al.
Human Reproduction Update (2019) Vol. 25, Iss. 5, pp. 519-541
Closed Access | Times Cited: 193
Miguel J. Xavier, Shaun D. Roman, R. John Aitken, et al.
Human Reproduction Update (2019) Vol. 25, Iss. 5, pp. 519-541
Closed Access | Times Cited: 193
Random monoallelic expression of autosomal genes: stochastic transcription and allele-level regulation
Björn Reinius, Rickard Sandberg
Nature Reviews Genetics (2015) Vol. 16, Iss. 11, pp. 653-664
Closed Access | Times Cited: 181
Björn Reinius, Rickard Sandberg
Nature Reviews Genetics (2015) Vol. 16, Iss. 11, pp. 653-664
Closed Access | Times Cited: 181
A biological classification of Huntington's disease: the Integrated Staging System
Sarah J. Tabrizi, Scott Schobel, Emily C. Gantman, et al.
The Lancet Neurology (2022) Vol. 21, Iss. 7, pp. 632-644
Open Access | Times Cited: 181
Sarah J. Tabrizi, Scott Schobel, Emily C. Gantman, et al.
The Lancet Neurology (2022) Vol. 21, Iss. 7, pp. 632-644
Open Access | Times Cited: 181
Exome and genome sequencing for inborn errors of immunity
Isabelle Meyts, Barbara Bosch, Alexandre Bolze, et al.
Journal of Allergy and Clinical Immunology (2016) Vol. 138, Iss. 4, pp. 957-969
Open Access | Times Cited: 179
Isabelle Meyts, Barbara Bosch, Alexandre Bolze, et al.
Journal of Allergy and Clinical Immunology (2016) Vol. 138, Iss. 4, pp. 957-969
Open Access | Times Cited: 179
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts
Rebecca Kingdom, Caroline F. Wright
Frontiers in Genetics (2022) Vol. 13
Open Access | Times Cited: 145
Rebecca Kingdom, Caroline F. Wright
Frontiers in Genetics (2022) Vol. 13
Open Access | Times Cited: 145
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update
Lara M. Lange, Paulina Gonzàlez‐Latapi, Rajasumi Rajalingam, et al.
Movement Disorders (2022) Vol. 37, Iss. 5, pp. 905-935
Open Access | Times Cited: 90
Lara M. Lange, Paulina Gonzàlez‐Latapi, Rajasumi Rajalingam, et al.
Movement Disorders (2022) Vol. 37, Iss. 5, pp. 905-935
Open Access | Times Cited: 90
Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
Michel Satya Naslavsky, Marília O. Scliar, Guilherme Lopes Yamamoto, et al.
Nature Communications (2022) Vol. 13, Iss. 1
Open Access | Times Cited: 88
Michel Satya Naslavsky, Marília O. Scliar, Guilherme Lopes Yamamoto, et al.
Nature Communications (2022) Vol. 13, Iss. 1
Open Access | Times Cited: 88
Mendelian inheritance revisited: dominance and recessiveness in medical genetics
Johannes Zschocke, Peter H. Byers, Andrew O.M. Wilkie
Nature Reviews Genetics (2023) Vol. 24, Iss. 7, pp. 442-463
Closed Access | Times Cited: 54
Johannes Zschocke, Peter H. Byers, Andrew O.M. Wilkie
Nature Reviews Genetics (2023) Vol. 24, Iss. 7, pp. 442-463
Closed Access | Times Cited: 54
Plasma metabolomic profiles enhance precision medicine for volunteers of normal health
Lining Guo, Michael V. Milburn, John Ryals, et al.
Proceedings of the National Academy of Sciences (2015) Vol. 112, Iss. 35
Open Access | Times Cited: 166
Lining Guo, Michael V. Milburn, John Ryals, et al.
Proceedings of the National Academy of Sciences (2015) Vol. 112, Iss. 35
Open Access | Times Cited: 166
Next Generation Sequencing and the Future of Genetic Diagnosis
Katja Lohmann, Christine Klein
Neurotherapeutics (2014) Vol. 11, Iss. 4, pp. 699-707
Open Access | Times Cited: 154
Katja Lohmann, Christine Klein
Neurotherapeutics (2014) Vol. 11, Iss. 4, pp. 699-707
Open Access | Times Cited: 154
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing
Matthew Mort, Timothy Sterne-Weiler, Biao Li, et al.
Genome biology (2014) Vol. 15, Iss. 1
Open Access | Times Cited: 154
Matthew Mort, Timothy Sterne-Weiler, Biao Li, et al.
Genome biology (2014) Vol. 15, Iss. 1
Open Access | Times Cited: 154