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Current Gastroenterology Reports, ISSN 1522-8037, 6/2016, Volume 18, Issue 6, pp. 1 - 7
Colorectal cancer (CRC) screening reduces CRC incidence and mortality and is widely recommended. However, despite these demonstrated benefits, a large... 
Screening | Medicine & Public Health | Stool DNA | Gastroenterology | Colorectal cancer | Diagnosis | Mortality | DNA | Cancer
Journal Article
Blood, ISSN 0006-4971, 12/2015, Volume 126, Issue 23, pp. 1241 - 1241
Abstract Associated with approximately 8-13% cases of acute myeloid leukemia (AML), t (8;21) results in the formation of the fusion oncoprotein AML1-ETO (AE),... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2018, Volume 379, Issue 22, pp. 2131 - 2139
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 and Medicinska fakulteten and Klinisk epidemiologi and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | GENETICS & HEREDITY | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Life Sciences
Journal Article
by Ramoni, Rachel B and Mulvihill, John J and Adams, Christopher J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Alejandro, Mercedes E and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernick, David and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brownstein, Catherine A 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 Eastwood, Rachel 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 Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” 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 Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Iglesias, Brenda 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, Paul R and Lee, Brendan H and Lee, Hane and Levy, Denise J and Levy, Shawn E and Lewis, Richard A and Liebendorder, Adam P and ... and Undiag Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
Journal Article
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
Current gastroenterology reports, 06/2016, Volume 18, Issue 6, p. 30
Colorectal cancer (CRC) screening reduces CRC incidence and mortality and is widely recommended. However, despite these demonstrated benefits, a large... 
Feces - chemistry | Precancerous Conditions - diagnosis | Early Detection of Cancer - methods | Colorectal Neoplasms - genetics | Humans | Sensitivity and Specificity | DNA, Neoplasm - analysis | Mass Screening - methods | Precancerous Conditions - genetics | Colorectal Neoplasms - diagnosis
Journal Article
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, Katherine R and Chao, Hsiao-Tuan and Comjean, Aram and Mohr, Stephanie E and Adams, David R and Adams, Christopher J 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 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, Paul R and Lee, Hane and Lee, Brendan H and Levy, Shawn E and Levy, Denise J and Lewis, Richard A and Liebendorfer, Adam P and ... and UDN
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on... 
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | SEQUENCE VARIANTS | PHENOTYPES | DATABASE | GENETICS & HEREDITY | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation
Journal Article