المؤلفون: Amanda M Travis, Samiya Manocha, Jason R Willer, Timothy S Wessler, Nikolai P Skiba, Jillian N Pearring

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: Arl3, photoreceptors, neuronal migration, Arl13B, RP2, retinal dystrophy, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/80533; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/ecaf601b5a6b45ae80fe434e2c14158f

المؤلفون: Kerry N Veth, Jason R Willer, Ross F Collery, Matthew P Gray, Gregory B Willer, Daniel S Wagner, Mary C Mullins, Ava J Udvadia, Richard S Smith, Simon W M John, Ronald G Gregg, Brian A Link

المصدر: PLoS Genetics, Vol 7, Iss 2, p e1001310 (2011)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3040661?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/38ba329e10954c9f95fdf5132f63c35f

المؤلفون: Yuanquan Song, Jason R Willer, Paul C Scherer, Jessica A Panzer, Amy Kugath, Emmanuel Skordalakes, Ronald G Gregg, Gregory B Willer, Rita J Balice-Gordon

المصدر: PLoS ONE, Vol 5, Iss 10, p e13743 (2010)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2966427?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/bf92e3045b0d493d91f711d1cbc89c42

المؤلفون: Daniel S. Levic, Donna Niedzwiecki, Apoorva Kandakatla, Norah S. Karlovich, Arjun Juneja, Jieun Park, Christina Stolarchuk, Shanté Adams, Jason R. Willer, Matthew R. Schaner, Grace Lian, Caroline Beasley, Lindsay Marjoram, Ann D. Flynn, John F. Valentine, Jane E. Onken, Shehzad Z. Sheikh, Erica E. Davis, Kimberley J. Evason, Katherine S. Garman, Michel Bagnat

المصدر: Gastro Hep Advances, Vol 3, Iss 7, Pp 888-898 (2024)

مصطلحات موضوعية: Epigenetics, Methylation, Inflammatory Bowel Disease, Anit-TNF Response, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772572324000918; https://doaj.org/toc/2772-5723

URL الوصول: https://doaj.org/article/5c811e8cbcfe49d3801475d29dc0ac64

المؤلفون: Hanh M. Truong, Kevin O. Cruz-Colón, Jorge Y. Martínez-Márquez, Jason R. Willer, Amanda M. Travis, Sondip K. Biswas, Woo-Kuen Lo, Hanno J. Bolz, Jillian N. Pearring

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/f74dc351288b4d82913bdf5257f95402

المؤلفون: Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Käseberg, Melanie Jäger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, Nuria Gruartmoner, Mattias Van Heetvelde, Joachim Wolf, Robert Merget, Sabine Grasshoff-Derr, Jo Van Dorpe, Anne Hoorens, Heidi Stöhr, Luke Mansard, Anne-Françoise Roux, Thomas Langmann, Katharina Dannhausen, David Rosenkranz, Karl M. Wissing, Michel Van Lint, Heidi Rossmann, Friederike Häuser, Peter Nürnberg, Holger Thiele, Ulrich Zechner, Jillian N. Pearring, Elfride De Baere, Hanno J. Bolz

المساهمون: Clinical sciences, Internal Medicine, Nephrology, Ophtalmology - Eye surgery

مصطلحات موضوعية: Molecular Genetics, Ophthalmology, genetic diseases, Nephrology, genetics, Genetics(clinical), General Medicine, Cell Biology, Retinopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e8b0c5aa94dcb15a336d9fcc3c68d89
https://biblio.vub.ac.be/vubir/cep162-deficiency-causes-human-retinal-degeneration-and-reveals-a-dual-role-in-ciliogenesis-and-neurogenesis(289dc089-0b21-4b56-a9ed-c7f79d778716).html

المؤلفون: Rossella Spataro, Maria Kousi, Sali M. K. Farhan, Jason R. Willer, Jay P. Ross, Patrick A. Dion, Guy A. Rouleau, Mark J. Daly, Benjamin M. Neale, Vincenzo La Bella, Nicholas Katsanis

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

Relation: http://link.springer.com/article/10.1186/s40246-019-0203-9; https://doaj.org/toc/1479-7364; https://doaj.org/article/2ca1793b76fd4a3483f28594050062e2

الاتاحة: https://doi.org/10.1186/s40246-019-0203-9
https://doaj.org/article/2ca1793b76fd4a3483f28594050062e2

المؤلفون: Amanda M Travis, Samiya Manocha, Jason R Willer, Timothy S Wessler, Nikolai P Skiba, Jillian N Pearring

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0f019185710010b98d44edd873cb649e
https://doi.org/10.7554/elife.80533.sa2

المؤلفون: Benjamin M. Helm, Jason R. Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E. Davis

المصدر: Human Genomics, Vol 11, Iss 1, Pp 1-14 (2017)

مصطلحات موضوعية: Skeletal ciliopathy, Conorenal dysplasia, Intraflagellar transport, Zebrafish, Whole exome sequencing, Heterodisomy, Medicine, Genetics, QH426-470

Relation: http://link.springer.com/article/10.1186/s40246-017-0111-9; https://doaj.org/toc/1479-7364; https://doaj.org/article/6faf41debfe14c3ab19a3ff6ca1ee35e

الاتاحة: https://doi.org/10.1186/s40246-017-0111-9
https://doaj.org/article/6faf41debfe14c3ab19a3ff6ca1ee35e

المؤلفون: Raquel Y. Salinas, Jillian N. Pearring, Jorge Y. Martínez-Márquez, Vadim Y. Arshavsky, Jason R. Willer, Eric C. Lieu

المصدر: J Neurosci

مصطلحات موضوعية: Male, 0301 basic medicine, Xenopus, Cyclic Nucleotide-Gated Cation Channels, Mice, Transgenic, Nerve Tissue Proteins, medicine.disease_cause, Animals, Genetically Modified, Mice, 03 medical and health sciences, symbols.namesake, Protein Domains, Protein targeting, Organelle, medicine, Animals, Research Articles, Secretory pathway, Mice, Knockout, Retina, Binding Sites, 030102 biochemistry & molecular biology, biology, Chemistry, General Neuroscience, Cilium, Membrane Proteins, Golgi apparatus, Rod Cell Outer Segment, biology.organism_classification, Cell biology, 030104 developmental biology, Membrane, medicine.anatomical_structure, Animals, Newborn, symbols, Female, sense organs

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9ddc02a9b7f8af90faad5408ca1bb62
https://doi.org/10.1523/jneurosci.2609-20.2021

المؤلفون: Amanda M. Travis, Samiya Manocha, Jason R. Willer, Timothy S. Wessler, Nikolai P. Skiba, Jillian N. Pearring

المصدر: eLife. 12

مصطلحات موضوعية: General Immunology and Microbiology, General Neuroscience, General Medicine, General Biochemistry, Genetics and Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22b0a23484521b5456b21c0238e178f1
https://pubmed.ncbi.nlm.nih.gov/36598133

المؤلفون: Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/ncomms11491; https://doaj.org/toc/2041-1723; https://doaj.org/article/22bd7d5adfdc431187d2dc80408e8af0

الاتاحة: https://doi.org/10.1038/ncomms11491
https://doaj.org/article/22bd7d5adfdc431187d2dc80408e8af0

المؤلفون: Jillian N. Pearring, Jason R. Willer, Joachim Wolf, Mattias Van Heetvelde, Heidi Stöhr, Anne-Françoise Roux, Heidi Rossmann, Nafisa Nuzhat, David Rosenkranz, Jennifer Winter, Sabine Grasshoff-Derr, Kristof Van Schil, Sandra Liakopoulos, Robert Merget, Luke Mansard, Miriam Bauwens, Hanh Truong, Hanno J. Bolz, Peter Nürnberg, Nuria Gruartmoner, Holger Thiele, U. Zechner, Anne Hoorens, Alfredo Dueñas Rey, Thomas Langmann, Melanie Jäger, Karl Martin Wissing, Stephan Käseberg, Friederike Häuser, Jo Van Dorpe, Elfride De Baere, Michel Van Lint, Katharina Dannhausen

مصطلحات موضوعية: Retinal degeneration, Ciliopathy, Centriole, Ciliogenesis, Cilium, Retinitis pigmentosa, medicine, Basal body, Biology, medicine.disease, Ciliopathies, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e6b89eeab7b6bbfdacb15c2e8642daa6
https://doi.org/10.1101/2021.11.23.469779

المؤلفون: Casey Trimmer, Jason R. Willer, Joel D. Mainland, Maira H. Nagai, Hiroaki Matsunami, Nicholas Katsanis, Nicolle R. Murphy, Lindsey L. Snyder, Leslie B. Vosshall, Andreas Keller

المصدر: Proceedings of the National Academy of Sciences. 116:9475-9480

مصطلحات موضوعية: Male, 0301 basic medicine, Genotype, genetic structures, Genetic genealogy, media_common.quotation_subject, Olfaction, Biology, Receptors, Odorant, 03 medical and health sciences, 0302 clinical medicine, Perception, Genetic variation, medicine, Humans, 10. No inequality, Receptor, 030304 developmental biology, media_common, Genetics, 0303 health sciences, Multidisciplinary, Olfactory receptor, Repertoire, Genetic Variation, Biological Sciences, Olfactory Perception, Phenotype, Variation (linguistics), 030104 developmental biology, medicine.anatomical_structure, Evolutionary biology, Female, psychological phenomena and processes, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::677893b4fb943b722b5b6d7526f778b5
https://doi.org/10.1073/pnas.1804106115

المؤلفون: Jason R. Willer, Jillian N. Pearring, Eric C. Lieu, Vadim Y. Arshavsky, Raquel Y. Salinas, Jorge Y. Martínez-Márquez

مصطلحات موضوعية: Retina, Chemistry, Cilium, Protein subunit, medicine.disease_cause, Membrane, medicine.anatomical_structure, Organelle, Domain (ring theory), Protein targeting, medicine, Biophysics, sense organs, Communication channel

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a42e9f04691d9add1ef73f01943a1e9d
https://doi.org/10.1101/2020.10.01.322859

المؤلفون: Asaf Vivante, Nicholas Katsanis, Orly Elpeleg, Tahir N. Khan, Yishay Salem, Erica E. Davis, Jason R. Willer, Pavle Matak, Yair Anikster, Asaf Ta-Shma, Chaim Jalas, Ben Pode-Shakked, Friedhelm Hildebrandt

المصدر: The American Journal of Human Genetics. 100:666-675

مصطلحات موضوعية: Male, 0301 basic medicine, Gene isoform, Locus (genetics), Biology, Bioinformatics, 03 medical and health sciences, Exon, 0302 clinical medicine, Genome editing, Report, Genetics, Humans, Point Mutation, Protein Isoforms, Abnormalities, Multiple, Gene, Zebrafish, Genetics (clinical), Exome sequencing, Cardio-Renal Syndrome, Infant, Newborn, Infant, Membrane Proteins, biology.organism_classification, Phenotype, Pedigree, 030104 developmental biology, Neurodevelopmental Disorders, Child, Preschool, Female, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b33cb8eaf964518029cb64606b71bfa
https://doi.org/10.1016/j.ajhg.2017.02.007

المؤلفون: Maria Kousi, Jason R. Willer, Vincenzo La Bella, Guy A. Rouleau, Jay P. Ross, Patrick A. Dion, Sali M.K. Farhan, Mark J. Daly, Nicholas Katsanis, Benjamin M. Neale, Rossella Spataro

المساهمون: Spataro R, Kousi M, Farhan SMK, Willer JR, Ross JP, Dion PA, Rouleau GA, Daly MJ, Neale BM, La Bella V, Katsanis N, Centre of Excellence in Complex Disease Genetics, Institute for Molecular Medicine Finland

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-10 (2019)
Human Genomics

مصطلحات موضوعية: Male, Amyotrophic lateral sclerosis, ATP13A2, parkinsonism, lcsh:Medicine, 0302 clinical medicine, C9orf72, Drug Discovery, Amyotrophic lateral sclerosis, Index case, Zebrafish, Exome sequencing, Motor Neurons, Genetics, 0303 health sciences, DEMENTIA, 1184 Genetics, developmental biology, physiology, Middle Aged, Pedigree, 3. Good health, Proton-Translocating ATPases, Phenotype, Molecular Medicine, Female, Settore MED/26 - Neurologia, Primary Research, Adult, lcsh:QH426-470, SOD1, Biology, TARDBP, 03 medical and health sciences, Parkinsonian Disorders, Neuronal Ceroid-Lipofuscinoses, Exome Sequencing, medicine, Animals, Humans, Genetic Predisposition to Disease, Molecular Biology, 030304 developmental biology, Genetic heterogeneity, Amyotrophic Lateral Sclerosis, lcsh:R, medicine.disease, Disease Models, Animal, lcsh:Genetics, Mutation, Neuronal ceroid lipofuscinosis, 030217 neurology & neurosurgery, PARKINSONISM

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2ec9a3c43eeb50ac77081fa9cadb97
http://hdl.handle.net/10447/436117

المؤلفون: Yaping Yang, Fan Xia, Jason R. Willer, Jeroen Schoots, Wenmiao Zhu, Han G. Brunner, Richard A. Gibbs, Lisenka E.L.M. Vissers, Jillian N. Pearring, Patricia P. Hernandez, Magalie S. Leduc, Shalini N. Jhangiani, Gladys Zapata, Ernie M.H.F. Bongers, Arthur L. Beaudet, Christine M. Eng, Wu Lin Charng, Seema R. Lalani, Ronald Roepman, James R. Lupski, Lindsay C. Burrage, Mohammad K. Eldomery, Erica E. Davis, Dorien Lugtenberg, Jill A. Rosenfeld, Sonja A. de Munnik, Zeynep Coban Akdemir, Mahshid S. Azamian, Donna M. Muzny, Nicholas Katsanis

المصدر: American Journal of Human Genetics, 97, 904-13
American Journal of Human Genetics, 97, 6, pp. 904-13

مصطلحات موضوعية: Male, Inheritance Patterns, Gene Expression, medicine.disease_cause, DNA replication factor CDT1, ORC6, Exon, Missense mutation, Genetics(clinical), Growth Disorders, Genetics (clinical), Genes, Dominant, Genetics, 0303 health sciences, Mutation, biology, Protein Stability, Cell Cycle, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Exons, Patella, Pedigree, Child, Preschool, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Heterozygote, Adolescent, RNA Splicing, Micrognathism, Molecular Sequence Data, Dwarfism, 03 medical and health sciences, Report, medicine, Humans, Amino Acid Sequence, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Gene, Congenital Microtia, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Base Sequence, Geminin, medicine.disease, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Proteolysis, biology.protein, Primordial dwarfism, Sequence Alignment

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1793e93fba43410d0caff4732fd5bde1
https://hdl.handle.net/2066/152097

المؤلفون: Susan S. Brooks, Christelle Golzio, Christopher V. Nicchitta, Nicholas Katsanis, Amalia Kondyles, Christina Botti, Erica E. Davis, David W. Reid, Alissa L. Wall, Jason R. Willer

المصدر: Genetics. 198:723-733

مصطلحات موضوعية: Adult, Male, Ribosomal Proteins, Microcephaly, Ribosomal Protein L10, Ribosomopathy, Mutation, Missense, Apoptosis, Young Adult, Genes, X-Linked, Ribosomal protein, Genetics, medicine, Animals, Humans, Missense mutation, Zebrafish, Skewed X-inactivation, Genetic Association Studies, Cell Proliferation, biology, Brain, Morphant, biology.organism_classification, medicine.disease, Pedigree, Child, Preschool, Commentary, Female, Translational elongation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae5924b7dc273b92594eafe77d7084c
https://doi.org/10.1534/genetics.114.168211

المؤلفون: Richard A. Gibbs, Craig W. Zuppan, James R. Lupski, Anna Lindstrand, Claudia M.B. Carvalho, Donna M. Muzny, Nicholas Katsanis, Jason R. Willer, Robin D. Clark, Erica E. Davis, Davut Pehlivan, Subhadra Ramanathan, Pengfei Liu, Eyal Banin, Aniko Sabo, Richard A. Lewis, I-Chun Tsai

المصدر: The American Journal of Human Genetics. 94:745-754

مصطلحات موضوعية: Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Locus (genetics), Biology, Kidney, Joubert syndrome, Mice, Bardet–Biedl syndrome, Nephronophthisis, Report, Genetics, medicine, Animals, Humans, Missense mutation, Genetics(clinical), Allele, Bardet-Biedl Syndrome, Alleles, Zebrafish, Genetics (clinical), Adaptor Proteins, Signal Transducing, Sequence Deletion, Gastrulation, Homozygote, Membrane Proteins, Heterozygote advantage, medicine.disease, Pedigree, Cytoskeletal Proteins, Ciliopathy, Genetic Loci

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d48d0970317b6a4026798f11f383bc
https://doi.org/10.1016/j.ajhg.2014.03.017