Murim Choi, Ph.D. - Publications

Duke University, Durham, NC 
Developmental Biology, Craniofacial, Neurobiology, Mouse, Zebrafish

69 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2018 Scholl UI, Stölting G, Schewe J, Thiel A, Tan H, Nelson-Williams C, Vichot AA, Jin SC, Loring E, Untiet V, Yoo T, Choi J, Xu S, Wu A, Kirchner M, ... ... Choi M, et al. CLCN2 chloride channel mutations in familial hyperaldosteronism type II. Nature Genetics. PMID 29403011 DOI: 10.1038/s41588-018-0048-5  0.6
2017 Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. The Journal of Clinical Investigation. 127: 3558. PMID 28862642 DOI: 10.1172/JCI96729  0.6
2017 Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, ... ... Choi M, et al. GABBR2 mutations determine phenotype in Rett syndrome and epileptic encephalopathy. Annals of Neurology. PMID 28856709 DOI: 10.1002/ana.25032  0.32
2017 Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. The Journal of Clinical Investigation. PMID 28375157 DOI: 10.1172/JCI90129  0.6
2016 Zhao S, Bellone S, Lopez S, Thakral D, Schwab C, English DP, Black J, Cocco E, Choi J, Zammataro L, Predolini F, Bonazzoli E, Bi M, Buza N, Hui P, ... ... Choi M, et al. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial-mesenchymal transition. Proceedings of the National Academy of Sciences of the United States of America. 113: 12238-12243. PMID 27791010 DOI: 10.1073/pnas.1614120113  0.6
2016 Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, et al. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. American Journal of Human Genetics. 99: 1000. PMID 27716515 DOI: 10.1016/j.ajhg.2016.09.003  0.6
2016 Zhao B, Lu Q, Cheng Y, Belcher JM, Siew ED, Leaf DE, Body SC, Fox AA, Waikar SW, Collard CD, Thiessen-Philbrook H, Ikizler TA, Ware LB, Edelstein CL, Garg AX, ... Choi M, et al. A Genome-Wide Association Study to Identify Single Nucleotide Polymorphisms for Acute Kidney Injury. American Journal of Respiratory and Critical Care Medicine. PMID 27576016 DOI: 10.1164/rccm.201603-0518OC  0.6
2016 Jo BS, Koh IU, Bae JB, Yu HY, Jeon ES, Lee HY, Kim JJ, Choi M, Choi SS. Methylome analysis reveals alterations in DNA methylation in the regulatory regions of left ventricle development genes in human dilated cardiomyopathy. Genomics. PMID 27417303 DOI: 10.1016/j.ygeno.2016.07.001  0.6
2016 Lee JS, Yoo Y, Lim BC, Kim KJ, Song J, Choi M, Chae JH. GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. American Journal of Medical Genetics. Part A. PMID 27232954 DOI: 10.1002/ajmg.a.37773  0.6
2016 Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Bahjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, et al. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. American Journal of Human Genetics. PMID 27181681 DOI: 10.1016/j.ajhg.2016.03.022  0.6
2016 Min Ko J, Jung S, Seo J, Ho Shin C, Il Cheong H, Choi M, Kim OH, Cho TJ. SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. Journal of Human Genetics. PMID 26791357 DOI: 10.1038/jhg.2015.174  0.6
2015 Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafé L, Rivolta C, Unger S, Superti-Furga A. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. Scientific Reports. 5: 17154. PMID 26598328 DOI: 10.1038/srep17154  0.6
2015 Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH. SATB2-associated syndrome presenting with Rett-like phenotypes. Clinical Genetics. PMID 26596517 DOI: 10.1111/cge.12698  0.6
2015 Vieira AR, Lee M, Vairo F, Loguercio Leite JC, Munerato MC, Visioli F, D'Ávila SR, Wang SK, Choi M, Simmer JP, Hu JC. Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. PMID 26337219 DOI: 10.1016/j.oooo.2015.05.006  0.6
2015 Skoulidis F, Byers LA, Diao L, Papadimitrakopoulou VA, Tong P, Izzo J, Behrens C, Kadara H, Parra ER, Rodriguez Canales J, Zhang J, Giri U, Gudikote J, Cortez MA, Yang C, ... ... Choi M, et al. Co-occurring Genomic Alterations Define Major Subsets of KRAS-Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic Vulnerabilities. Cancer Discovery. PMID 26069186 DOI: 10.1158/2159-8290.CD-14-1236  0.6
2015 Scholl UI, Stölting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, et al. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife. 4: e06315. PMID 25907736 DOI: 10.7554/eLife.06315  0.6
2015 Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, et al. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nature Genetics. 47: 512-7. PMID 25848748 DOI: 10.1038/ng.3278  0.6
2015 Cromer MK, Choi M, Nelson-Williams C, Fonseca AL, Kunstman JW, Korah RM, Overton JD, Mane S, Kenney B, Malchoff CD, Stalberg P, Akerström G, Westin G, Hellman P, Carling T, et al. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas. Proceedings of the National Academy of Sciences of the United States of America. 112: 4062-7. PMID 25787250 DOI: 10.1073/pnas.1503696112  0.6
2015 Walker WE, Kurscheid S, Joshi S, Lopez CA, Goh G, Choi M, Barakat L, Francis J, Fisher A, Kozal M, Zapata H, Shaw A, Lifton R, Sutton RE, Fikrig E. Increased Levels of Macrophage Inflammatory Proteins Result in Resistance to R5-Tropic HIV-1 in a Subset of Elite Controllers. Journal of Virology. 89: 5502-14. PMID 25740989 DOI: 10.1128/JVI.00118-15  0.6
2015 Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB. Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. Journal of Human Genetics. 60: 213-5. PMID 25608830 DOI: 10.1038/jhg.2015.2  0.6
2015 Kunstman JW, Juhlin CC, Goh G, Brown TC, Stenman A, Healy JM, Rubinstein JC, Choi M, Kiss N, Nelson-Williams C, Mane S, Rimm DL, Prasad ML, Höög A, Zedenius J, et al. Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing. Human Molecular Genetics. 24: 2318-29. PMID 25576899 DOI: 10.1093/hmg/ddu749  0.6
2015 Juhlin CC, Goh G, Healy JM, Fonseca AL, Scholl UI, Stenman A, Kunstman JW, Brown TC, Overton JD, Mane SM, Nelson-Williams C, Bäckdahl M, Suttorp AC, Haase M, Choi M, et al. Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma. The Journal of Clinical Endocrinology and Metabolism. 100: E493-502. PMID 25490274 DOI: 10.1210/jc.2014-3282  0.6
2014 Patterson VL, Zullo AJ, Koenig C, Stoessel S, Jo H, Liu X, Han J, Choi M, DeWan AT, Thomas JL, Kuan CY, Hoh J. Neural-specific deletion of Htra2 causes cerebellar neurodegeneration and defective processing of mitochondrial OPA1. Plos One. 9: e115789. PMID 25531304 DOI: 10.1371/journal.pone.0115789  0.6
2014 Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, Verbitsky M, Fasel D, Lata S, Prakash S, Shapiro S, Fischman C, Snyder HJ, Appel G, Izzi C, Viola BF, et al. Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. Nature Genetics. 46: 1187-96. PMID 25305756 DOI: 10.1038/ng.3118  0.6
2014 Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nature Genetics. 46: 1135-9. PMID 25217960 DOI: 10.1038/ng.3066  0.6
2014 Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal of Hepatology. 61: 1056-63. PMID 25016221 DOI: 10.1016/j.jhep.2014.06.038  0.6
2014 Gupta AR, Pirruccello M, Cheng F, Kang HJ, Fernandez TV, Baskin JM, Choi M, Liu L, Ercan-Sencicek AG, Murdoch JD, Klei L, Neale BM, Franjic D, Daly MJ, Lifton RP, et al. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism. 5: 31. PMID 24860643 DOI: 10.1186/2040-2392-5-31  0.6
2014 Keramati AR, Fathzadeh M, Go GW, Singh R, Choi M, Faramarzi S, Mane S, Kasaei M, Sarajzadeh-Fard K, Hwa J, Kidd KK, Babaee Bigi MA, Malekzadeh R, Hosseinian A, Babaei M, et al. A form of the metabolic syndrome associated with mutations in DYRK1B. The New England Journal of Medicine. 370: 1909-19. PMID 24827035 DOI: 10.1056/NEJMoa1301824  0.6
2014 Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kunstman JW, Kuntsman JW, Korah R, Suttorp AC, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, et al. Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nature Genetics. 46: 613-7. PMID 24747643 DOI: 10.1038/ng.2956  0.6
2014 Zhao S, Choi M, Heuck C, Mane S, Barlogie B, Lifton RP, Dhodapkar MV. Serial exome analysis of disease progression in premalignant gammopathies. Leukemia. 28: 1548-52. PMID 24496302 DOI: 10.1038/leu.2014.59  0.6
2014 Ment LR, Adén U, Lin A, Kwon SH, Choi M, Hallman M, Lifton RP, Zhang H, Bauer CR. Gene-environment interactions in severe intraventricular hemorrhage of preterm neonates. Pediatric Research. 75: 241-50. PMID 24192699 DOI: 10.1038/pr.2013.195  0.6
2013 Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschké P, Bole-Feysot C, Cochat P, Esteve-Rudd J, ... ... Choi M, et al. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. The Journal of Clinical Investigation. 123: 5179-89. PMID 24270420 DOI: 10.1172/JCI69000  0.6
2013 Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nature Genetics. 45: 1050-4. PMID 23913001 DOI: 10.1038/ng.2695  0.6
2013 Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, et al. Mutations in DSTYK and dominant urinary tract malformations. The New England Journal of Medicine. 369: 621-9. PMID 23862974 DOI: 10.1056/NEJMoa1214479  0.6
2013 Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature. 498: 220-3. PMID 23665959 DOI: 10.1038/nature12141  0.6
2013 Zhang W, Hui KY, Gusev A, Warner N, Ng SM, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick RJ, Cardinale CJ, Hakonarson H, Waterman M, Chowers Y, et al. Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3. Genes and Immunity. 14: 310-6. PMID 23615072 DOI: 10.1038/gene.2013.19  0.6
2013 Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nature Genetics. 45: 531-6. PMID 23542698 DOI: 10.1038/ng.2590  0.6
2013 Zhao S, Choi M, Overton JD, Bellone S, Roque DM, Cocco E, Guzzo F, English DP, Varughese J, Gasparrini S, Bortolomai I, Buza N, Hui P, Abu-Khalaf M, Ravaggi A, et al. Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proceedings of the National Academy of Sciences of the United States of America. 110: 2916-21. PMID 23359684 DOI: 10.1073/pnas.1222577110  0.6
2013 Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, et al. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America. 110: 3489-94. PMID 23359680 DOI: 10.1073/pnas.1222732110  0.6
2013 Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, AvÅŸar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yilmaz B, Grady C, ... ... Choi M, et al. Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science (New York, N.Y.). 339: 1077-80. PMID 23348505 DOI: 10.1126/science.1233009  0.6
2012 Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, et al. Familial cortical myoclonus with a mutation in NOL3. Annals of Neurology. 72: 175-83. PMID 22926851 DOI: 10.1002/ana.23666  0.6
2012 Ã…kerström T, Crona J, Delgado Verdugo A, Starker LF, Cupisti K, Willenberg HS, Knoefel WT, Saeger W, Feller A, Ip J, Soon P, Anlauf M, Alesina PF, Schmid KW, Decaussin M, ... ... Choi M, et al. Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter. Plos One. 7: e41926. PMID 22848660 DOI: 10.1371/journal.pone.0041926  0.6
2012 Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, et al. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nature Genetics. 44: 1006-14. PMID 22842228 DOI: 10.1038/ng.2359  0.6
2012 Cromer MK, Starker LF, Choi M, Udelsman R, Nelson-Williams C, Lifton RP, Carling T. Identification of somatic mutations in parathyroid tumors using whole-exome sequencing. The Journal of Clinical Endocrinology and Metabolism. 97: E1774-81. PMID 22740705 DOI: 10.1210/jc.2012-1743  0.6
2012 Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, Eitner F, Snyder HJ, Choi M, Hou P, Scolari F, Izzi C, Gigante M, Gesualdo L, Savoldi S, Amoroso A, et al. Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis. Plos Genetics. 8: e1002765. PMID 22737082 DOI: 10.1371/journal.pgen.1002765  0.6
2012 Fonseca AL, Kugelberg J, Starker LF, Scholl U, Choi M, Hellman P, Åkerström G, Westin G, Lifton RP, Björklund P, Carling T. Comprehensive DNA methylation analysis of benign and malignant adrenocortical tumors. Genes, Chromosomes & Cancer. 51: 949-60. PMID 22733721 DOI: 10.1002/gcc.21978  0.6
2012 Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, ... ... Choi M, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 485: 237-41. PMID 22495306 DOI: 10.1038/nature10945  0.6
2012 Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood. 119: 4731-40. PMID 22493294 DOI: 10.1182/blood-2011-10-386862  0.6
2012 Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature. 482: 98-102. PMID 22266938 DOI: 10.1038/nature10814  0.6
2011 Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/j.neuron.2011.05.002  0.6
2011 Barak T, Kwan KY, Louvi A, Demirbilek V, Sayg? S, Tüysüz B, Choi M, Boyac? H, Doerschner K, Zhu Y, Kaymakçalan H, Y?lmaz S, Bak?rc?o?lu M, Ca?layan AO, Oztürk AK, et al. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nature Genetics. 43: 590-4. PMID 21572413 DOI: 10.1038/ng.836  0.6
2011 Gharavi AG, Kiryluk K, Choi M, Li Y, Hou P, Xie J, Sanna-Cherchi S, Men CJ, Julian BA, Wyatt RJ, Novak J, He JC, Wang H, Lv J, Zhu L, et al. Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nature Genetics. 43: 321-7. PMID 21399633 DOI: 10.1038/ng.787  0.6
2011 Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, Lolis E, Wisgerhof MV, Geller DS, Mane S, Hellman P, et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (New York, N.Y.). 331: 768-72. PMID 21311022 DOI: 10.1126/science.1198785  0.6
2011 Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M. Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proceedings of the National Academy of Sciences of the United States of America. 108: 2915-20. PMID 21282601 DOI: 10.1073/pnas.1019645108  0.6
2011 Lee JS, Choi M, Yan X, Lifton RP, Zhao H. On optimal pooling designs to identify rare variants through massive resequencing. Genetic Epidemiology. 35: 139-47. PMID 21254222 DOI: 10.1002/gepi.20561  0.6
2011 Walsh KM, Choi M, Oberg K, Kulke MH, Yao JC, Wu C, Jurkiewicz M, Hsu LI, Hooshmand SM, Hassan M, Janson ET, Cunningham JL, Vosburgh E, Sackler RS, Lifton RP, et al. A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum. Endocrine-Related Cancer. 18: 171-80. PMID 21139019 DOI: 10.1677/ERC-10-0248  0.6
2010 Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science (New York, N.Y.). 330: 94-7. PMID 20798280 DOI: 10.1126/science.1192280  0.6
2010 Jeon HY, Choi M, Howlett EL, Vozhilla N, Yoo BK, Lloyd JA, Sarkar D, Lee SG, Fisher PB. Expression patterns of astrocyte elevated gene-1 (AEG-1) during development of the mouse embryo. Gene Expression Patterns : Gep. 10: 361-7. PMID 20736086 DOI: 10.1016/j.gep.2010.08.004  0.6
2010 Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizo?lu D, Tüysüz B, Ca?layan AO, Gökben S, Kaymakçalan H, Barak T, Bakircio?lu M, Yasuno K, Ho W, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 467: 207-10. PMID 20729831 DOI: 10.1038/nature09327  0.6
2009 Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkalo?lu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proceedings of the National Academy of Sciences of the United States of America. 106: 19096-101. PMID 19861545 DOI: 10.1073/pnas.0910672106  0.6
2009 Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proceedings of the National Academy of Sciences of the United States of America. 106: 5842-7. PMID 19289823 DOI: 10.1073/pnas.0901749106  0.6
2009 Choi M, Klingensmith J. Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. Plos Genetics. 5: e1000395. PMID 19247433 DOI: 10.1371/journal.pgen.1000395  0.36
2008 Bilguvar K, Yasuno K, Niemelä M, Ruigrok YM, von Und Zu Fraunberg M, van Duijn CM, van den Berg LH, Mane S, Mason CE, Choi M, Gaál E, Bayri Y, Kolb L, Arlier Z, Ravuri S, et al. Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nature Genetics. 40: 1472-7. PMID 18997786 DOI: 10.1038/ng.240  0.6
2007 Choi M, Stottmann RW, Yang YP, Meyers EN, Klingensmith J. The bone morphogenetic protein antagonist noggin regulates mammalian cardiac morphogenesis. Circulation Research. 100: 220-8. PMID 17218603 DOI: 10.1161/01.RES.0000257780.60484.6a  0.6
2006 Que J, Choi M, Ziel JW, Klingensmith J, Hogan BL. Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps. Differentiation; Research in Biological Diversity. 74: 422-37. PMID 16916379 DOI: 10.1111/j.1432-0436.2006.00096.x  0.6
2006 Anderson RM, Stottmann RW, Choi M, Klingensmith J. Endogenous bone morphogenetic protein antagonists regulate mammalian neural crest generation and survival. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 235: 2507-20. PMID 16894609 DOI: 10.1002/dvdy.20891  0.6
2006 Stottmann RW, Berrong M, Matta K, Choi M, Klingensmith J. The BMP antagonist Noggin promotes cranial and spinal neurulation by distinct mechanisms. Developmental Biology. 295: 647-63. PMID 16712836 DOI: 10.1016/j.ydbio.2006.03.051  0.6
2004 Stottmann RW, Choi M, Mishina Y, Meyers EN, Klingensmith J. BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium. Development (Cambridge, England). 131: 2205-18. PMID 15073157 DOI: 10.1242/dev.01086  0.6
2002 Choi M, Lee H, Rho HM. E2F1 activates the human p53 promoter and overcomes the repressive effect of hepatitis B viral X protein (Hbx) on the p53 promoter. Iubmb Life. 53: 309-17. PMID 12625370 DOI: 10.1080/15216540213466  0.6
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