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1. Full Text Microbial glycan microarrays define key features of host-microbial interactions
by Stowell, Sean R and Arthur, Connie M and Mcbride, Ryan and Berger, Oren and Razi, Nahid and Heimburg-Molinaro, Jamie and Rodrigues, Lilian C and Gourdine, Jean-Philippe and Noll, Alexander J and Von Gunten, Stephan and Smith, David F and Knirel, Yuriy A and Paulson, James C and Cummings, Richard D
Nature chemical biology, ISSN 1552-4450, 2014, Volume 10, Issue 6, pp. 470 - 476
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Antigens | Infectious diseases | Immunology | Microbiology | Genomics | Index Medicus
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2. Full Text Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
by Köhler, Sebastian and Carmody, Leigh and Vasilevsky, Nicole and Jacobsen, Julius O.B and Danis, Daniel and Gourdine, Jean Philippe and Gargano, Michael and Harris, Nomi L and Matentzoglu, Nicolas and McMurry, Julie A and Osumi-Sutherland, David and Cipriani, Valentina and Balhoff, James P and Conlin, Tom and Blau, Hannah and Baynam, Gareth and Palmer, Richard and Gratian, Dylan and Dawkins, Hugh and Segal, Michael and Jansen, Anna C and Muaz, Ahmed and Chang, Willie H and Bergerson, Jenna and Laulederkind, Stanley J.F and Yüksel, Zafer and Beltran, Sergi and Freeman, Alexana F and Sergouniotis, Panagiotis I and Durkin, Daniel and Storm, Anea L and Hanauer, Marc and Brudno, Michael and Bello, Susan M and Sincan, Murat and Rageth, Kayli and Wheeler, Matthew T and Oegema, Renske and Lourghi, Halima and Della Rocca, Maria G and Thompson, Rachel and Castellanos, Francisco and Priest, James and Cunningham-Rundles, Charlotte and Hegde, Ayushi and Lovering, Ruth C and Hajek, Catherine and Olry, Annie and Notarangelo, Luigi and Similuk, Morgan and Zhang, Xingmin A and Gómez-Anés, David and Lochmüller, Hanns and Dollfus, Hélène and Rosenzweig, Sergio and Marwaha, Shruti and Rath, Ana and Sullivan, Kathleen and Smith, Cynthia and Milner, Joshua D and Leroux, Dorothée and Boerkoel, Cornelius F and Klion, Amy and Carter, Melody C and Groza, Tudor and Smedley, Damian and Haendel, Melissa A and Mungall, Chris and Robinson, Peter N
Nucleic acids research, ISSN 0305-1048, 01/2019, Volume 47, Issue D1, pp. D1018 - D1027
Genetics | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Rare Diseases - genetics | Computational Biology - methods | Genetic Predisposition to Disease - genetics | Knowledge Bases | Biological Ontologies | Humans | Rare Diseases - diagnosis | Databases, Genetic | Whole Genome Sequencing - methods | Congenital Abnormalities - diagnosis | Genetic Variation | Phenotype | Congenital Abnormalities - genetics | Internet | Index Medicus | Database Issue
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3. Full Text Innate immune lectins kill bacteria expressing blood group antigen
by Gourdine, Jean-Philippe and Molinaro, Ross J and Dias-Baruffi, Marcelo and Xia, Baoyun and Rodrigues, Lilian C and Smith, David F and Stowell, Sean R and Arthur, Connie M and Heimburg-Molinaro, Jamie and Cummings, Richard D and Rivera-Marrero, Carlos and Ju, Tongzhong
Nature medicine, ISSN 1078-8956, 03/2010, Volume 16, Issue 3, pp. 295 - 301
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Protein Structure, Tertiary | Enteropathogenic Escherichia coli - immunology | Humans | Antigens, Bacterial - immunology | Galectin 4 - immunology | Galectin 3 - immunology | Epitopes | Recombinant Proteins | Immunity, Innate - immunology | Blood Group Antigens - immunology | Enteropathogenic Escherichia coli - metabolism | Animals | Flow Cytometry | Blood Group Antigens - physiology | Enteropathogenic Escherichia coli - pathogenicity | Galectin 4 - physiology | Immunity, Innate - physiology | Galectins - immunology | Galectins - physiology | Escherichia coli Infections - immunology | Mice | Galectin 3 - physiology | Lectins | Physiological aspects | Blood group antigens | Genetic aspects | Research | Escherichia coli | Proteins | Bacteria | Immunology | Biomedical research | Cellular biology | Index Medicus
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4. Full Text Galectins are human milk glycan receptors
by Noll, Alexander J and Gourdine, Jean-Philippe and Yu, Ying and Lasanajak, Yi and Smith, David F and Cummings, Richard D
Glycobiology (Oxford), ISSN 0959-6658, 06/2016, Volume 26, Issue 6, pp. 665 - 669
glycan recognition | galectins | shotgun glycomics | human milk glycans | glycan microarrays | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Carbohydrate Sequence | Galectins - chemistry | Humans | Recombinant Proteins - chemistry | Recombinant Proteins - biosynthesis | Milk, Human - chemistry | Recombinant Proteins - isolation & purification | Galactose - chemistry | Galectins - biosynthesis | Microarray Analysis | Polysaccharides - chemistry | Protein Binding | Female | Protein Interaction Domains and Motifs | Galectins - isolation & purification | Kinetics | Binding Sites | Index Medicus | ORIGINAL ARTICLES
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5. Full Text A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genomics | Humans | Male | Developmental Disabilities - genetics | Sequence Analysis, DNA | Whole Exome Sequencing - methods | Whole Genome Sequencing | Developmental Disabilities - epidemiology | Exome - genetics | Phenotype | Female | Child | Developmental Disabilities - diagnosis | Bioinformatics | Index Medicus | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
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6. Full Text Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Dis Network and Undiagnosed Diseases Network
Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Index Medicus
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7. Full Text MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
by Wang, Julia and Al-Ouran, Rami and Hu, Yanhui and Kim, Seon-Young and Wan, Ying-Wooi and Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Comjean, Aram and Mohr, Stephanie E and Adams, Christopher J and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan H and Lee, Hane and Lee, Paul R and Levy, Shawn E and Levy, Denise J and Lewis, Richard A and Liebendorfer, Adam P and ... and UDN
American journal of human genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation | Index Medicus
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