High-throughput discovery of novel developmental phenotypes

Steve D. M. Brown | Lisa X. Yu | Jacqueline K. White | Mark W. Moore | Juan J. Gallegos | M. Daly | D. MacArthur | M. Bucan | J. Mason | A. Beaudet | Lynette R. Bower | R. Braun | M. Dickinson | A. Flenniken | H. Fuchs | Xiang Gao | Shiying Guo | Y. Hérault | M. Justice | K. C. K. Lloyd | A. Mallon | C. McKerlie | T. Meehan | S. Murray | H. Parkinson | R. Ramirez-Solis | J. Seavitt | T. Sorg | K. Svenson | S. Wakana | David B. West | S. Wells | H. Westerberg | P. Flicek | R. Henkelman | M. Dolan | A. Bradley | G. Tocchini-Valentini | D. Adams | M. Lek | J. Cleak | L. Donahue | K. Samocha | J. Ellegood | A. Yoshiki | M. Mark | L. B. Caddle | D. Rowland | M. Selloum | W. Skarnes | L. Teboul | M. D. de Angelis | Jonathan Warren | Ilinca Tudose | M. Stewart | N. Horner | V. Gailus-Durner | G. Pavlovic | Iva Morse | L. Nutter | S. Newbigging | W. Weninger | Xiao Ji | E. Ryder | S. Spring | Shinya Ayabe | M. Wong | H. Adissu | Candice N. Baker | James M. Brown | Francesco Chiani | Dave A. Clary | J. Denegre | B. Doe | Sarah Edie | A. Galli | A. Gambadoro | Chih-Wei Hsu | S. Johnson | Sowmya Kalaga | L. C. Keith | L. Lanoue | T. Lawson | S. Marschall | Melissa L. McElwee | Kevin A. Peterson | Zsombor Szoke-Kovacs | Masaru Tamura | A. Trainor | O. Wendling | Leeyean Wong | T. Mohun | A. Ayadi | M. Birling | E. Tuck | L. Morikawa | T. Bayzetinova | R. Maswood | S. Jacquot | A. Murakami | M. Mckay | Debarati Sethi | Evelina Miklejewska | Bishoy Habib | A. Green | Catherine Tudor | E. Siragher | Rachel Urban | Stuart Newman | Lynette R Bower | A. Creighton | R. Taft | Ruolin Guo | S. Dion | D. Qu | K. Lloyd | F. Pertuy | Michael Woods | Marie Wattenhofer-Donzé | Dave A Clary | C. Lund | K. Palmer | Diane Gleeson | Ozge Danisment | M. Iwama | D. Ali-Hadji | L. Goodwin | J. Harrison | E. Grau | P. André | S. Kales | Ellen Brown | Nicola Griggs | Caroline Sinclair | A. Mehalow | Amal El Amri | E. le Marchand | Barbara Urban | Lauren Weavers | Hughes Jacobs | P. Feugas | Charlotte Lillistone | Jonathan Burvill | W. Wurst | B. Weber | Sam Joynson | Erin D. Froeter | Candice N Baker | James Cleak | Amanda G. Trainor | Matthew Barbara Caroline Erin Taylor Adrienne Emily Leah R McKay Urban Lund Froeter LaCasse Mehalow | Taylor LaCasse | Emily R. Gordon | P. Kutney | Fabien Deborah Bruno Patrice Hughes Elise Amal Leila Hami Pertuy Bitz Weber Goetz-Reiner Jacobs Le M | D. Bitz | Patrice Goetz-Reiner | Leila El Fertak | Hamid Ennah | Iva Frank Morse Benso | Frank Benso | Michelle E. Carol Jackie Samantha Stewart Copley Harrison Joynson | Caroline Copley | Ruolin Dawei Shoshana Lisa Jacob Lily Xueyuan Pat Amie Pa Guo Qu Spring Yu Ellegood Morikawa Shang F | Xueyuan Shang | P. Castellanos Pentón | Nicola Catherine L. Angela L. Cecilia Emma Charlotte Eliz Griggs Tudor Green Icoresi Mazzeo Siragher | Cecilia Icoresi Mazzeo | Shinya Mizuho Ayumi Ayabe Iwama Murakami | Paul Flicek | Mark W. Moore | M. Stewart | Steve D. M. Brown | Ruolin Guo | R. Ramírez‐Solís | K. K. Lloyd | J. K. White | Dawei Qu | X. Ji | M. D. Wong | Elise Le Marchand | Amal El Amri | Leila El Fertak | Abdel Ayadi | Lisa Yu | Jackie Harrison | Lily Morikawa

[1]  Harry Hemingway,et al.  Health and population effects of rare gene knockouts in adult humans with related parents , 2015, Science.

[2]  James Y. Zou Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[3]  D. Durocher,et al.  High-Resolution CRISPR Screens Reveal Fitness Genes and Genotype-Specific Cancer Liabilities , 2015, Cell.

[4]  G. Superti-Furga,et al.  Gene essentiality and synthetic lethality in haploid human cells , 2015, Science.

[5]  E. Lander,et al.  Identification and characterization of essential genes in the human genome , 2015, Science.

[6]  R. Mark Henkelman,et al.  4D atlas of the mouse embryo for precise morphological staging , 2015, Development.

[7]  Henrik Westerberg,et al.  Analysis of mammalian gene function through broad based phenotypic screens across a consortium of mouse clinics , 2015, Nature Genetics.

[8]  H. Stefánsson,et al.  Identification of a large set of rare complete human knockouts , 2015, Nature Genetics.

[9]  Janan T. Eppig,et al.  Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens , 2015, Journal of Biomedical Semantics.

[10]  F. Alkuraya Human knockout research: new horizons and opportunities. , 2015, Trends in genetics : TIG.

[11]  Judith A. Blake,et al.  The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease , 2014, Nucleic Acids Res..

[12]  S. Dimauro,et al.  A new muscle glycogen storage disease associated with glycogenin‐1 deficiency , 2014, Annals of neurology.

[13]  D. Adams,et al.  Phenotyping structural abnormalities in mouse embryos using high-resolution episcopic microscopy , 2014, Disease Models & Mechanisms.

[14]  R Mark Henkelman,et al.  Automated pipeline for anatomical phenotyping of mouse embryos using micro-CT , 2014, Development.

[15]  S. Perrin Preclinical research: Make mouse studies work , 2014, Nature.

[16]  Peggy Hall,et al.  The NHGRI GWAS Catalog, a curated resource of SNP-trait associations , 2013, Nucleic Acids Res..

[17]  R. Mark Henkelman,et al.  Structural Stabilization of Tissue for Embryo Phenotyping Using Micro-CT with Iodine Staining , 2013, PloS one.

[18]  P. Stenson,et al.  The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine , 2013, Human Genetics.

[19]  R. Mark Henkelman,et al.  Design and Implementation of a Custom Built Optical Projection Tomography System , 2013, PloS one.

[20]  D. Goldstein,et al.  Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes , 2013, PLoS genetics.

[21]  R. Jaenisch,et al.  One-Step Generation of Mice Carrying Reporter and Conditional Alleles by CRISPR/Cas-Mediated Genome Engineering , 2013, Cell.

[22]  Henrik Westerberg,et al.  A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains , 2013, Genome Biology.

[23]  Damian Smedley,et al.  Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes , 2013, Cell.

[24]  M. Bucan,et al.  From Mouse to Human: Evolutionary Genomics Analysis of Human Orthologs of Essential Genes , 2013, PLoS genetics.

[25]  Richard Baldock,et al.  Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening , 2013, Disease Models & Mechanisms.

[26]  Wei Yang,et al.  Cbx4 regulates the proliferation of thymic epithelial cells and thymus function , 2013, Development.

[27]  Roberta Spinelli,et al.  Recurrent SETBP1 mutations in atypical chronic myeloid leukemia , 2012, Nature Genetics.

[28]  Steve D. M. Brown,et al.  The mammalian gene function resource: the international knockout mouse consortium , 2012, Mammalian Genome.

[29]  Steve D. M. Brown,et al.  Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project , 2012, Mammalian Genome.

[30]  R. Mark Henkelman,et al.  A novel 3D mouse embryo atlas based on micro-CT , 2012, Development.

[31]  Joseph K. Pickrell,et al.  A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes , 2012, Science.

[32]  Ben Lehner,et al.  Predicting mutation outcome from early stochastic variation in genetic interaction partners , 2011, Nature.

[33]  Kathryn E. Hentges,et al.  Defining the Role of Essential Genes in Human Disease , 2011, PloS one.

[34]  F. Prinz,et al.  Believe it or not: how much can we rely on published data on potential drug targets? , 2011, Nature Reviews Drug Discovery.

[35]  J. Harrow,et al.  A conditional knockout resource for the genome-wide study of mouse gene function , 2011, Nature.

[36]  Gary D Bader,et al.  Too many roads not taken , 2011, Nature.

[37]  Gary D Bader,et al.  The human genome and drug discovery after a decade. Roads (still) not taken , 2011, 1102.0448.

[38]  Arno Klein,et al.  A reproducible evaluation of ANTs similarity metric performance in brain image registration , 2011, NeuroImage.

[39]  J. Rossant,et al.  Phenotypic annotation of the mouse X chromosome. , 2010, Genome research.

[40]  B. Andersson,et al.  Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. , 2010, The New England journal of medicine.

[41]  Alexander van Oudenaarden,et al.  Variability in gene expression underlies incomplete penetrance , 2009, Nature.

[42]  Alan C. Evans,et al.  Longitudinal neuroanatomical changes determined by deformation-based morphometry in a mouse model of Alzheimer's disease , 2008, NeuroImage.

[43]  U. Surti,et al.  Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2 , 2007, Nature Genetics.

[44]  R. Henkelman,et al.  Mouse behavioral mutants have neuroimaging abnormalities , 2007, Human brain mapping.

[45]  R Mark Henkelman,et al.  Anatomical phenotyping in the brain and skull of a mutant mouse by magnetic resonance imaging and computed tomography. , 2006, Physiological genomics.

[46]  D. Hilton,et al.  The art and design of genetic screens: mouse , 2005, Nature Reviews Genetics.

[47]  P. Stenson,et al.  Human Gene Mutation Database (HGMD®): 2003 update , 2003, Human mutation.

[48]  A. F. Stewart,et al.  High-throughput engineering of the mouse genome coupled with high-resolution expression analysis , 2003, Nature Biotechnology.

[49]  Alan F. Scott,et al.  Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders , 2002, Nucleic Acids Res..

[50]  J. Hecksher-Sørensen,et al.  Optical Projection Tomography as a Tool for 3D Microscopy and Gene Expression Studies , 2002, Science.

[51]  Thomas E. Nichols,et al.  Thresholding of Statistical Maps in Functional Neuroimaging Using the False Discovery Rate , 2002, NeuroImage.

[52]  M. Justice Capitalizing on large-scale mouse mutagenesis screens , 2000, Nature Reviews Genetics.

[53]  M. Ashburner,et al.  Gene Ontology: tool for the unification of biology , 2000, Nature Genetics.

[54]  S. P. Oh,et al.  The type II activin receptors are essential for egg cylinder growth, gastrulation, and rostral head development in mice. , 1999, Developmental biology.

[55]  A. Kasarskis,et al.  A phenotype-based screen for embryonic lethal mutations in the mouse. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[56]  K. Herrup,et al.  Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype. , 1995, Science.

[57]  A. Bradley,et al.  Different phenotypes for mice deficient in either activins or activin receptor type II , 1995, Nature.

[58]  D. Collins,et al.  Automatic 3D Intersubject Registration of MR Volumetric Data in Standardized Talairach Space , 1994, Journal of computer assisted tomography.

[59]  J. Sulston,et al.  Isolation and genetic characterization of cell-lineage mutants of the nematode Caenorhabditis elegans. , 1980, Genetics.

[60]  A. Schinzel,et al.  A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. , 1978, American journal of medical genetics.