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81. Full Text An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery
by Haghighi, Alireza and Krier, Joel B and Toth-Petroczy, Agnes and Cassa, Christopher A and Frank, Natasha Y and Carmichael, Nikkola and Fieg, Elizabeth and Bjonnes, Andrew and Mohanty, Anwoy and Briere, Lauren C and Lincoln, Sharyn and Lucia, Stephanie and Gupta, Vandana A and Söylemez, Onuralp and Sutti, Sheila and Kooshesh, Kameron and Qiu, Haiyan and Fay, Christopher J and Perroni, Victoria and Valerius, Jamie and Hanna, Meredith and Frank, Alexander and Ouahed, Jodie and Snapper, Scott B and Pantazi, Angeliki and Chopra, Sameer S and Leshchiner, Ignaty and Stitziel, Nathan O and Feldweg, Anna and Mannstadt, Michael and Loscalzo, Joseph and Sweetser, David A and Liao, Eric and Stoler, Joan M and Nowak, Catherine B and Sanchez-Lara, Pedro A and Klein, Ophir D and Perry, Hazel and Patsopoulos, Nikolaos A and Raychaudhuri, Soumya and Goessling, Wolfram and Green, Robert C and Seidman, Christine E and MacRae, Calum A and Sunyaev, Shamil R and Maas, Richard L and Vuzman, Dana and Brigham Womens Hosp FaceBase Proje and BGM and Undiagnosed Dis Network and Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM)
npj Genomic Medicine, ISSN 2056-7944, 12/2018, Volume 3, Issue 1, pp. 21 - 10
Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these... 
DIAGNOSIS | UNDIAGNOSED DISEASES | GENETICS & HEREDITY | MUTATIONS | MAP3K7 | FACEBASE CONSORTIUM | HUMAN PHENOTYPE ONTOLOGY | Crowdsourcing | Interdisciplinary aspects
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82. Full Text Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing
by Consugar, Mark B and Navarro-Gomez, Daniel and Place, Emily M and Bujakowska, Kinga M and Sousa, Maria E and Fonseca-Kelly, Zoë D and Taub, Daniel G and Janessian, Maria and Wang, Dan Yi and Au, Elizabeth D and Sims, Katherine B and Sweetser, David A and Fulton, Anne B and Liu, Qin and Wiggs, Janey L and Gai, Xiaowu and Pierce, Eric A
Genetics in medicine : official journal of the American College of Medical Genetics, 04/2015, Volume 17, Issue 4, p. 253
Next-generation sequencing-based methods are being adopted broadly for genetic diagnostic testing, but the performance characteristics of these techniques with... 
Exome - genetics | Reproducibility of Results | Eye Diseases - genetics | Genetic Testing | Prospective Studies | Humans | Sensitivity and Specificity | Genotype | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Eye Diseases - pathology | Eye Diseases - diagnosis
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83. Grammatical constructions
: their form and meaning
by Shibatani, Masayoshi
1996, ISBN 9780198235392, xvii, 345
Structural linguistics | Grammar, Comparative and general
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84. Full Text FLT3 internal tandem duplication in CD34+/CD33- precursors predicts poor outcome in acute myeloid leukemia
by Pollard, Jessica A and Alonzo, Todd A and Gerbing, Robert B and Woods, William G and Lange, Beverly J and Sweetser, David A and Radich, Jerald P and Bernstein, Irwin D and Meshinchi, Soheil
Blood, ISSN 0006-4971, 10/2006, Volume 108, Issue 8, pp. 2764 - 2769
`Acute myeloid leukemia (AML) is a clonal disease characterized by heterogeneous involvement of hematopoietic stem cell/progenitor cell populations. Using FLT3... 
STEM-CELLS | INDUCTION THERAPY | GENE | ACUTE MYELOGENOUS LEUKEMIA | WHOLE GENOME AMPLIFICATION | PROGNOSTIC-SIGNIFICANCE | MUTATIONS | CHILDRENS-CANCER-GROUP | HEMATOLOGY | ACUTE PROMYELOCYTIC LEUKEMIA | COLONY-FORMING CELLS | Tumor Stem Cell Assay | Antigens, CD34 - metabolism | Prognosis | Humans | Neoplastic Stem Cells - immunology | Tandem Repeat Sequences | Leukemia, Myeloid, Acute - immunology | Antigens, CD - metabolism | Erythroid Precursor Cells - enzymology | fms-Like Tyrosine Kinase 3 - genetics | Hematopoietic Stem Cells - immunology | Leukemia, Myeloid, Acute - enzymology | Antigens, Differentiation, Myelomonocytic - metabolism | Alleles | Colony-Forming Units Assay | Mutation | Sialic Acid Binding Ig-like Lectin 3 | In Vitro Techniques | Child | Erythroid Precursor Cells - immunology | Hematopoietic Stem Cells - enzymology | Neoplastic Stem Cells - enzymology | Leukemia, Myeloid, Acute - genetics | Neoplasia
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85. Full Text Expanding the phenotypic spectrum ofGABRG2variants: a recurrentGABRG2missense variant associated with a severe phenotype
by Zou, Fanggeng and McWalter, Kirsty and Schmidt, Lindsay and Decker, Amy and Picker, Jonathan D and Lincoln, Sharyn and Sweetser, David A and Briere, Lauren C and Harini, Chellamani and Marsh, Eric and Medne, Livija and Wang, Raymond Y and Leydiker, Karen and Mower, Andrew and Visser, Gepke and Cuppen, Inge and van Gassen, Koen L and van der Smagt, Jasper and Yousaf, Adeel and Tennison, Michael and Shanmugham, Anita and Butler, Elizabeth and Richard, Gabriele and McKnight, Dianalee and Members of the Undiagnosed Diseases Network
Journal of Neurogenetics, ISSN 0167-7063, 04/2017, Volume 31, Issue 1-2, pp. 30 - 36
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86. Full Text 895 Adequacy of Colonoscopic Resection of Malignant Polyps
by Lightner, Amy L and Dozois, Eric and Sweetser, Seth and Larson, David W and Mathis, Kellie
Gastroenterology, ISSN 0016-5085, 2016, Volume 150, Issue 4, pp. S1190 - S1190
Gastroenterology and Hepatology | Surgery
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87. Full Text Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype
by Zou, Fanggeng and McWalter, Kirsty and Schmidt, Lindsay and Decker, Amy and Picker, Jonathan D and Lincoln, Sharyn and Sweetser, David A and Briere, Lauren C and Harini, Chellamani and Marsh, Eric and Medne, Livija and Wang, Raymond Y and Leydiker, Karen and Mower, Andrew and Visser, Gepke and Cuppen, Inge and van Gassen, Koen L and van der Smagt, Jasper and Yousaf, Adeel and Tennison, Michael and Shanmugham, Anita and Butler, Elizabeth and Richard, Gabriele and McKnight, Dianalee and Undiagnosed Dis Network and Members of the Undiagnosed Diseases Network
Journal of Neurogenetics, ISSN 0167-7063, 04/2017, Volume 31, Issue 1-2, pp. 30 - 36
Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most... 
phenotype | missense | seizures | genetics | Epilepsy | GABRG2 | Medicine(all) | Cellular and Molecular Neuroscience | Journal Article | ENCEPHALOPATHIES | TRAFFICKING | GAMMA-2-SUBUNIT | NEUROSCIENCES | CHILDHOOD ABSENCE EPILEPSY | FEBRILE SEIZURES PLUS | GENE | FAMILIES | GENETICS & HEREDITY | MUTATIONS | GENERALIZED EPILEPSY | SUBUNIT | Abnormalities, Multiple - pathology | Humans | Infant | Male | Mutation, Missense | Intellectual Disability - genetics | Speech Disorders - pathology | Epilepsy - genetics | Female | Child | Abnormalities, Multiple - genetics | Motor Disorders - pathology | Severity of Illness Index | Motor Disorders - genetics | Muscle Hypotonia - genetics | Movement Disorders - pathology | Intellectual Disability - pathology | Speech Disorders - genetics | Muscle Hypotonia - pathology | Phenotype | Pedigree | Receptors, GABA-A - genetics | Adolescent | Movement Disorders - genetics | Epilepsy - pathology | epilepsy
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88. Full Text TLE Corepressors as Novel Candidate AML Tumor Suppressor Genes That Regulate Wnt Signaling, Cell Cycle Progression, and Myeloid Differentiation
by Dayyani, Farshid and Zhang, Yuntian and Zaidi, Sayyed T and Sweetser, David A
Blood, ISSN 0006-4971, 11/2005, Volume 106, Issue 11, pp. 1601 - 1601
Abstract Deletion of the long arm of chromosome 9, del(9q), is one of the most common mutations associated with t(8;21) AML. Up to 50% of del(9q) AML is seen... 
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89. Full Text Demographics and Internet behaviors as predictors of active publics
by Dozier, David M and Shen, Hongmei and Sweetser, Kaye D and Barker, Valerie
Public Relations Review, ISSN 0363-8111, 03/2016, Volume 42, Issue 1, pp. 82 - 90
This study explicates online political activism (OPA); provides a short, reliable, and valid index for measuring OPA; and examines correlates that predict such... 
Active publics | Situational theory | Political public relations | Narcotizing dysfunction | Political activism | Self-efficacy | VOTERS | BUSINESS | ONLINE | POLITICAL INFORMATION EFFICACY | SITES | ELECTION | ENGAGEMENT | COMMUNICATION | GRATIFICATIONS | Political participation | Demographics | Activism | Effectiveness | Correlation analysis | Probability | Respondents | Internet | User behavior | Attitude surveys | Validation studies
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90. Full Text The TLE1 Tumor Suppressor Regulates Myc Induced Leukemogenesis
by Sweetser, David and Ramasamy, Selvi and Blackburn, Jessica S and Langenau, David M
Blood, ISSN 0006-4971, 11/2011, Volume 118, Issue 21, pp. 2473 - 2473
Abstract Abstract 2473 The Groucho/TLE family of corepressors has been described as master regulatory genes during development, affecting multiple cell fate... 
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91. Full Text Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
by Cassini, Thomas A and Duncan, Laura and Rives, Lynette C and Newman, John H and Phillips, John A and Koziura, Mary E and Brault, Jennifer and Hamid, Rizwan and Cogan, Joy and Adams, Christopher and Adams, David and Alejandro, Mercedes and Allard, Patrick and Ashley, Euan and Azamian, Mashid and Bacino, Carlos and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan and Bellen, Hugo and Bernstein, Jonathan and Bick, David and Birch, Camille and Boone, Braden and Bostwick, Bret and Briere, Lauren and Brown, Donna and Brush, Matthew and Burke, Elizabeth and Burrage, Lindsay and Chao, Katherine and Chen, Shan and Clark, Gary and Cooper, Cynthia and Craigen, William and Davids, Mariska and Dayal, Jyoti and Dell'Angelica, Esteban and Dhar, Shweta and Dipple, Katrina and Donnell‐Fink, Laurel and Dorrani, Naghmeh and Dorset, Daniel and Draper, David and Dries, Annika and Eckstein, David and Emrick, Lisa and Eng, Christine and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul and Frisby, Trevor and Frost, Kate and Gahl, William and Gartner, Valerie and Godfrey, Rena and Goheen, Mitchell and Golas, Gretchen and Goldstein, David and Gordon, Mary and Gould, Sarah and Gourdine, Jean‐Philippe and Graham, Brett and Groden, Catherine and Gropman, Andrea and Hackbarth, Mary and Haendel, Melissa and Hanchard, Neil and Handley, Lori and Hardee, Isabel and Herzog, Matthew and Holm, Ingrid and Howerton, Ellen and Jacob, Howard and Jain, Mahim and Jiang, Yong‐hui and Johnston, Jean and Jones, Angela and Koehler, Alanna and Koeller, David and Kohane, Isaac and Kohler, Jennefer and Krasnewich, Donna and Krieg, Elizabeth and Krier, Joel and Kyle, Jennifer and Lalani, Seema and Latham, Lea and Latour, Yvonne and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan and Lee, Hane and Lee, Paul and Levy, Shawn and Levy, Denise and Lewis, Richard and Liebendorfer, Adam and Lincoln, Sharyn and Loscalzo, Joseph and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 06/2019, Volume 7, Issue 6, pp. e00676 - n/a
Background Rare variants (RV) in immunoglobulin mu‐binding protein 2 (IGHMBP2) [OMIM 600502] can cause an autosomal recessive type of Charcot‐Marie‐Tooth (CMT)... 
Charcot‐Marie‐Tooth | IGHMBP2 | intron | splicing | Undiagnosed Disease Network | whole exome sequencing | Charcot-Marie-Tooth | SPINAL MUSCULAR-ATROPHY | GENETICS & HEREDITY | MUTATIONS | FEATURES | Evaluation | Signs and symptoms | Phenotypes | RNA-directed DNA polymerase | Disease | Transcription | Splicing | Heredity | Genomes | Peripheral neuropathy | Gene sequencing | Polymerase chain reaction | Atrophy | Clonal deletion | Coding | Charcot-Marie-Tooth disease | Deletion | Age
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92. Full Text An Unusual Cause of Gastric Outlet Obstruction
by Anderson, Bradley and Johnson, David and Sweetser, Seth
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association, 02/2018
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93. Full Text Delineation of the minimal commonly deleted segment and identification of candidate tumor‐suppressor genes in del(9q) acute myeloid leukemia
by Sweetser, David A and Peniket, Andrew J and Haaland, Christina and Blomberg, Adam A and Zhang, Yuntian and Zaidi, Syed Tanweer and Dayyani, Farshid and Zhao, Zheng and Heerema, Nyla A and Boultwood, Jacqueline and Dewald, Gordon W and Paietta, Elisabeth and Slovak, Marilyn L and Willman, Cheryl L and Wainscoat, James S and Bernstein, Irwin D and Daly, Sarah B
Genes, Chromosomes and Cancer, ISSN 1045-2257, 11/2005, Volume 44, Issue 3, pp. 279 - 291
Deletion of the long arm of chromosome 9, del(9q), is a recurring chromosomal aberration in acute myeloid leukemia (AML) that is frequently associated with... 
DEFINITIVE HEMATOPOIESIS | P53 GENE | ONCOLOGY | ACUTE MYELOGENOUS LEUKEMIA | MOUSE MODEL | GENETICS & HEREDITY | FACTOR-KAPPA-B | MUTATIONS | TRANSCRIPTION FACTOR | EXPRESSION | PML/RAR-ALPHA | TRANSGENIC MICE | Chromosome Deletion | Chromosomes, Human, Pair 8 - genetics | Acute Disease | Humans | Leukemia, Myeloid - genetics | Chromosomes, Human, Pair 9 | DNA Primers | Genes, Tumor Suppressor - physiology | Mutation | Microsatellite Repeats | Chromosomes, Human, Pair 5 - genetics | Cohort Studies | Translocation, Genetic - genetics
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94. Full Text The Transcriptional corepressorTle4 Is a Novel Regulator Of Murine Hematopoietic Stem and Progenitor Cells and Their Niche
by Wheat, Justin C and Krause, Daniela S and Wang, Jianfeng and Chen, Xi and Shin, Thomas and Sweetser, David
Blood, ISSN 0006-4971, 11/2013, Volume 122, Issue 21, pp. 588 - 588
Abstract We previously identified Transducin-like/Enhancer of Split 4 (TLE4) as a potential tumor suppressor gene in acute myeloid leukemia whose loss appears... 
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95. Full Text Midgut volvulus as an adverse event of postsphincterotomy bleeding
by Sweetser, Seth, MD and Bruining, David H., MD and Baron, Todd H., MD, FASGE
Gastrointestinal Endoscopy, ISSN 0016-5107, 2012, Volume 75, Issue 4, pp. 929 - 930
Gastroenterology and Hepatology | GASTROENTEROLOGY & HEPATOLOGY | COMPLICATIONS | ENDOSCOPIC SPHINCTEROTOMY | Intestinal Volvulus - diagnostic imaging | Cholestasis - therapy | Humans | Liver Neoplasms - complications | Male | Postoperative Hemorrhage - complications | Intestinal Volvulus - etiology | Sphincterotomy, Endoscopic - adverse effects | Intestinal Volvulus - surgery | Radiography | Carcinoma, Hepatocellular - complications | Fatal Outcome | Aged
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96. Full Text TLE1 Null Mice Have Altered Myeloid and B-Cell Differentiation As Well As Impaired Regulation of Inflammation
by Ramasamy, Selvi and Borja, Saez and Mukhopadhyay, Subhankar and Wang, Jianfeng and Ding, Daching and Chen, Xi and Sweetser, David
Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 21, pp. 1197 - 1197
Abstract Abstract 1197 TLE1 belongs to the Groucho/TLE family of co-repressors that act as master regulators during development affecting segmentation,... 
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97. Full Text Tle4 Is Critical for Proper B- Cell Differentiation and Maintenance of the Murine Bone Marrow Niche
by Wheat, Justin C and Wang, Jianfeng and Chen, Xi and Krause, Daniela S and Sweetser, David
Blood, ISSN 0006-4971, 11/2012, Volume 120, Issue 21, pp. 1202 - 1202
Abstract Abstract 1202 Transducin-like/Enhancer of Split 4 (TLE4), a homolog of the master developmental regulator in Drosophila, Groucho, is a co repressor... 
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98. Full Text TLEs Regulate Myeloid Proliferation and Differentiation In Association with Modulation of NF-κB and Wnt Signaling
by Wang, Jianfeng and Dayyani, Farshid and Brynzka, Christopher and Sweetser, David
Blood, ISSN 0006-4971, 11/2010, Volume 116, Issue 21, pp. 4176 - 4176
Abstract Abstract 4176 We recently identified two members of the Groucho family of co-repressors, TLE (transducin-like enhancer of split) 1 and TLE4, as... 
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99. Full Text Adrenocorticotropin-secreting pancreatoblastoma
by Kletter, Gad B and Sweetser, David A and Wallace, Steven F and Sawin, Robert S and Rutledge, Joe C and Geyer, J. Russell
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 2007, Volume 20, Issue 5, pp. 639 - 642
We present a 3 year-old child with Cushing's syndrome due to an ACTH-secreting metastatic pancreatoblastoma. This malignancy is a rare cause of Cushing's... 
OCTREOTIDE | CUSHINGS-SYNDROME | HORMONE | MANAGEMENT | ISLET-CELL-CARCINOMA | ENDOCRINOLOGY & METABOLISM | PANCREAS | KETOCONAZOLE | PEDIATRICS | TUMORS | ECTOPIC ACTH SYNDROME | ADRENALECTOMY | Pancreatic Neoplasms - metabolism | Pancreatic Neoplasms - diagnosis | Humans | Pancreatic Neoplasms - pathology | Cushing Syndrome - diagnosis | Child, Preschool | ACTH Syndrome, Ectopic - diagnosis | Neoplasms, Complex and Mixed - diagnosis | Fatal Outcome | Neoplasms, Complex and Mixed - pathology | Female | Neoplasms, Complex and Mixed - metabolism | Adrenocorticotropic Hormone - metabolism
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100. Full Text Predisposition to infection and SIRS in oxidative phosphorylation disorders: 8years' experience of a New England cohort at Massachusetts General Hospital and partners affiliates
by Walker, Melissa A and Slate, Nancy and Lax, Timothy and Alejos, Alexandra and Volpi, Stefano and Sweetser, David and Sims, Katherine and Walter, Jolan E
Mitochondrion, ISSN 1567-7249, 11/2013, Volume 13, Issue 6, p. 905
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