The ClinSeq Project: Piloting Large-Scale Genome Sequencing for Research in Genomic Medicine

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

S. Girirajan, M. Dennis, Carl A. Baker, et al.. (2013). American journal of human genetics. Cited 291 times. https://doi.org/10.1016/j.ajhg.2012.12.016

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing.

J. Teer, L. Bonnycastle, P. Chines, et al.. (2010). Genome research. Cited 219 times. https://doi.org/10.1101/gr.106716.110

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

J. Johnston, W. Rubinstein, F. Facio, et al.. (2012). American journal of human genetics. Cited 204 times. https://doi.org/10.1016/j.ajhg.2012.05.021

High Incidence of Unrecognized Visceral/Neurological Late-onset Niemann-Pick Disease, type C1 Predicted by Analysis of Massively Parallel Sequencing Data Sets

C. Wassif, J. Cross, J. Iben, et al.. (2015). Genetics in medicine : official journal of the American College of Medical Genetics. Cited 198 times. https://doi.org/10.1038/gim.2015.25

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

A. Belot, P. Kasher, Eleanor W. Trotter, et al.. (2013). Arthritis and rheumatism. Cited 178 times. https://doi.org/10.1002/art.38008

Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study

F. Facio, Haley Eidem, Tyler Fisher, et al.. (2012). European Journal of Human Genetics. Cited 174 times. https://doi.org/10.1038/ejhg.2012.179

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

J. Clayton-Smith, J. O’Sullivan, Sarah B. Daly, et al.. (2011). American journal of human genetics. Cited 172 times. https://doi.org/10.1016/j.ajhg.2011.10.008

VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer

J. Teer, E. Green, J. Mullikin, et al.. (2012). Bioinformatics. Cited 147 times. https://doi.org/10.1093/bioinformatics/btr711

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

C. Rinaldi, C. Grunseich, I. Sevrioukova, et al.. (2012). American journal of human genetics. Cited 141 times. https://doi.org/10.1016/j.ajhg.2012.10.008

Motivators for participation in a whole-genome sequencing study: implications for translational genomics research

F. Facio, S. Brooks, Johanna Loewenstein, et al.. (2011). European Journal of Human Genetics. Cited 134 times. https://doi.org/10.1038/ejhg.2011.123

Next-generation sequencing in the clinic: are we ready?

L. Biesecker, W. Burke, I. Kohane, et al.. (2012). Nature Reviews Genetics. Cited 132 times. https://doi.org/10.1038/nrg3357

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

G. Nicholson, Guy M. Lenk, S. Reddel, et al.. (2011). Brain : a journal of neurology. Cited 126 times. https://doi.org/10.1093/brain/awr148

A Loss‐of‐Function Variant in the Human Histidyl‐tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Aimée Vester, Gisselle A. Vélez-Ruiz, Heather M. McLaughlin, et al.. (2013). Human Mutation. Cited 122 times. https://doi.org/10.1002/humu.22210

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.

D. Hanson, P. Murray, J. O’Sullivan, et al.. (2011). American journal of human genetics. Cited 116 times. https://doi.org/10.1016/j.ajhg.2011.05.028

Effects of informed consent for individual genome sequencing on relevant knowledge

Kimberly A. Kaphingst, F. Facio, Meng-Ru Cheng, et al.. (2012). Clinical Genetics. Cited 112 times. https://doi.org/10.1111/j.1399-0004.2012.01909.x

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.

L. Biesecker, J. Mullikin, F. Facio, et al.. (2009). Genome research. Cited 91 times. https://doi.org/10.1101/gr.092841.109

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

G. Landouré, P. Zhu, Charles M Lourenço, et al.. (2013). Human Mutation. Cited 82 times. https://doi.org/10.1002/humu.22378

Interpreting Secondary Cardiac Disease Variants in an Exome Cohort

David Ng, J. Johnston, J. Teer, et al.. (2013). Circulation: Cardiovascular Genetics. Cited 81 times. https://doi.org/10.1161/CIRCGENETICS.113.000039

Validation of My Family Health Portrait for six common heritable conditions

F. Facio, W. G. Feero, Amy Linn, et al.. (2010). Genetics in Medicine. Cited 79 times. https://doi.org/10.1097/GIM.0b013e3181e15bd5

Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

Stephen G. Gonsalves, David Ng, J. Johnston, et al.. (2013). Anesthesiology. Cited 78 times. https://doi.org/10.1097/ALN.0b013e3182a8a8e7

How do research participants perceive “uncertainty” in genomic sequencing?

B. Biesecker, W. Klein, K. Lewis, et al.. (2014). Genetics in medicine : official journal of the American College of Medical Genetics. Cited 75 times. https://doi.org/10.1038/gim.2014.57

Dispositional optimism and perceived risk interact to predict intentions to learn genome sequencing results.

Jennifer M. Taber, W. Klein, R. Ferrer, et al.. (2015). Health psychology : official journal of the Division of Health Psychology, American Psychological Association. Cited 74 times. https://doi.org/10.1037/hea0000159

Information Avoidance Tendencies, Threat Management Resources, and Interest in Genetic Sequencing Feedback

Jennifer M. Taber, W. Klein, R. Ferrer, et al.. (2015). Annals of Behavioral Medicine. Cited 67 times. https://doi.org/10.1007/s12160-014-9679-7

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

C. Rinaldi, T. Schmidt, A. Situ, et al.. (2015). JAMA neurology. Cited 67 times. https://doi.org/10.1001/jamaneurol.2014.4769

Research participants’ attitudes towards the confidentiality of genomic sequence information

L. Jamal, Julie C. Sapp, K. Lewis, et al.. (2013). European Journal of Human Genetics. Cited 66 times. https://doi.org/10.1038/ejhg.2013.276

Genomic Inheritances: Disclosing Individual Research Results From Whole-Exome Sequencing to Deceased Participants’ Relatives

B. Chan, F. Facio, Haley Eidem, et al.. (2012). The American Journal of Bioethics. Cited 61 times. https://doi.org/10.1080/15265161.2012.699138

Preferences for results delivery from Exome Sequencing/Genome Sequencing

M. F. Wright, K. Lewis, Tyler Fisher, et al.. (2013). Genetics in medicine : official journal of the American College of Medical Genetics. Cited 59 times. https://doi.org/10.1038/gim.2013.170

The role of current affect, anticipated affect and spontaneous self-affirmation in decisions to receive self-threatening genetic risk information

R. Ferrer, Jennifer M. Taber, W. Klein, et al.. (2015). Cognition and Emotion. Cited 56 times. https://doi.org/10.1080/02699931.2014.985188

Determination of the allelic frequency in Smith–Lemli–Opitz syndrome by analysis of massively parallel sequencing data sets

Joanna L. Cross, James Iben, Claire L. Simpson, et al.. (2015). Clinical Genetics. Cited 55 times. https://doi.org/10.1111/cge.12425

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

M. Rees, David Ng, S. Ruppert, et al.. (2012). The Journal of clinical investigation. Cited 49 times. https://doi.org/10.1172/JCI46425

Essential Role of the m2R-RGS6-IKACh Pathway in Controlling Intrinsic Heart Rate Variability

E. Posokhova, David Ng, A. Opel, et al.. (2013). PLoS ONE. Cited 43 times. https://doi.org/10.1371/journal.pone.0076973

Integrative DNA, RNA, and protein evidence connects TREML4 to coronary artery calcification.

S. Sen, Kimberly C. Boelte, J. Barb, et al.. (2014). American journal of human genetics. Cited 31 times. https://doi.org/10.1016/j.ajhg.2014.06.003

A candidate gene for autoimmune myasthenia gravis

G. Landouré, M. A. Knight, H. Stanescu, et al.. (2012). Neurology. Cited 23 times. https://doi.org/10.1212/WNL.0b013e318260cbd0

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research

F. Facio, Julie C. Sapp, Amy Linn, et al.. (2012). BMC Medical Genomics. Cited 16 times. https://doi.org/10.1186/1755-8794-5-45

Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the U.S. Surgeon General’s My Family Health Portrait

Portrait, W. G. Feero, F. Facio, et al.. (2014). Genetics in medicine : official journal of the American College of Medical Genetics. Cited 14 times. https://doi.org/10.1038/gim.2014.179

Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines

S. Sen, J. Barb, P. Cherukuri, et al.. (2014). BMC Genomics. Cited 12 times. https://doi.org/10.1186/1471-2164-15-198

FOS expression in blood as a LDL-independent marker of statin treatment.

Ju-Gyeong Kang, H. Sung, Sarah I Jawed, et al.. (2010). Atherosclerosis. Cited 8 times. https://doi.org/10.1016/j.atherosclerosis.2010.06.023

Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations.

David Ng, Emma Spaulding, J. Mullikin, et al.. (2010). Atherosclerosis. Cited 2 times. https://doi.org/10.1016/j.atherosclerosis.2010.04.011