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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
Purpose: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES... 
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | REANALYSIS | VARIANTS | GENETICS & HEREDITY | MEDICAL GENETICS | WHOLE GENOME | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
Journal Article
MOLECULES, ISSN 1420-3049, 06/2013, Volume 18, Issue 6, pp. 6469 - 6490
Journal Article
CHEMMEDCHEM, ISSN 1860-7179, 09/2017, Volume 12, Issue 18, pp. 1555 - 1571
Zirconium-89 is a positron-emitting radionuclide of high interest for medical imaging applications with positron emission tomography (PET). For the... 
CHEMISTRY, MEDICINAL | DESFERRIOXAMINE-B | ACID | IMMUNO-PET | CLICK CHEMISTRY | BEHAVIOR | COMPLEXES | ZIRCONIUM-89 | macrocyclic ligands | RADIOPHARMACEUTICALS | IN-VIVO | chelates | tetrahydroxamate | PHARMACOLOGY & PHARMACY | Zr-89 | radiochemistry
Journal Article
by Shashi, Vandana and Geist, Janelle and Lee, Youngha and Yoo, Yongjin and Shin, Unbeom and Schoch, Kelly and Sullivan, Jennifer and Stong, Nicholas and Smith, Edward and Jasien, Joan and Kranz, Peter and Lee, Yoonsung and Shin, Yong Beom and Wright, Nathan T and Choi, Murim and Kontrogianni‐Konstantopoulos, Aikaterini and Acosta, Maria T 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 Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Barbouth, Deborah and Batzli, Gabriel F and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bonnenmann, Carsten 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 Carrasquillo, Olveen and Chang, Ta Chen Peter and Chao, Hsiao‐Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D'Souza, Precilla and Dasari, Surendra and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U 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 Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Forghani, Irman and Friedman, Noah D and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean‐Philippe F and Grajewski, Alana and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and High, Frances and Holm, Ingrid A and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1115 - 1126
Encoding the slow skeletal muscle isoform of myosin binding protein‐C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The... 
arthrogryposis | tremor | MYBPC1 | myosin binding protein‐C | myopathy | hypotonia | BINDING-PROTEIN-C | DIFFERENTIAL EXPRESSION | myosin binding protein-C | GENETICS | SLOW | GENETICS & HEREDITY | MUTATIONS | Wildlife conservation | Analysis | Myosin | Muscles | Genetic aspects | Muscle proteins | Protein binding
Journal Article
JOURNAL OF NUCLEAR MEDICINE, ISSN 0161-5505, 04/2011, Volume 52, Issue 4, pp. 586 - 591
Although protein-based PET imaging agents are projected to become important tracer molecules in the future, the labeling of complex biomolecules with PET... 
APOPTOSIS | ACID | rat serum albumin | ANTIBODY | FUTURE | annexin V | AGENT | CONJUGATION | B-CELL LYMPHOMA | Ga-68-labeling | proteins | kit | MICE | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | PET
Journal Article
by Kelly, McKenna and Park, Meredith and Mihalek, Ivana and Rochtus, Anne and Gramm, Marie and Pérez‐Palma, Eduardo and Axeen, Erika Takle and Hung, Christina Y and Olson, Heather and Swanson, Lindsay and Anselm, Irina and Briere, Lauren C and High, Frances A and Sweetser, David A and Kayani, Saima and Snyder, Molly and Calvert, Sophie and Scheffer, Ingrid E and Yang, Edward and Waugh, Jeff L and Lal, Dennis and Bodamer, Olaf and Poduri, Annapurna 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 Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L 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 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 Fairbrother, Laura 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 High, Francis and Holm, Ingrid A and Hom, Jason and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Epilepsia, ISSN 0013-9580, 03/2019, Volume 60, Issue 3, pp. 406 - 418
Journal Article
Epilepsia, ISSN 0013-9580, 2010, Volume 51, Issue 9, pp. 1780 - 1790
P>Purpose: Based on experimental findings, overexpression of P-glycoprotein at the blood-brain barrier has been suggested to be a contributor to... 
P-glycoprotein | Pharmacoresistance | Drug-refractoriness | Blood-brain barrier | Multidrug transporter | Positron emission tomography | HEALTHY HUMANS | REFRACTORY EPILEPSY | BLOOD-BRAIN-BARRIER | CLINICAL NEUROLOGY | DRUG EFFLUX TRANSPORTERS | INDUCED UP-REGULATION | POSITRON-EMISSION-TOMOGRAPHY | INHIBITION | ANTIEPILEPTIC DRUGS | IN-VIVO EVALUATION | PET | Phenobarbital - pharmacology | Brain - diagnostic imaging | Humans | ATP-Binding Cassette, Sub-Family B, Member 1 - metabolism | Epilepsy, Temporal Lobe - drug therapy | Seizures - metabolism | Positron-Emission Tomography | Seizures - diagnostic imaging | Hippocampus - diagnostic imaging | Quinolines - pharmacology | Brain - metabolism | Epilepsy, Temporal Lobe - diagnostic imaging | Blood-Brain Barrier - diagnostic imaging | Drug Resistance, Multiple - physiology | Disease Models, Animal | Phenobarbital - metabolism | Rats | Epilepsy, Temporal Lobe - metabolism | ATP-Binding Cassette, Sub-Family B, Member 1 - physiology | Rats, Sprague-Dawley | Blood-Brain Barrier - metabolism | Hippocampus - metabolism | Phenobarbital - therapeutic use | Animals | Carbon Radioisotopes | Brain | Phenobarbital | Seizures (Medicine) | PET imaging | Epilepsy | Pharmacy | Neuroimaging | Temporal lobe | Animal models | Translation | Therapeutic applications | Brain mapping | Drug resistance | Kinetics | P-Glycoprotein | Hippocampus | Seizures
Journal Article
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 Diseases Network
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene . The current... 
Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Mutation
Journal Article