| Year |
Citation |
Score |
| 2023 |
Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, Marasa M, Zhang JY, Balderes O, Sanna-Cherchi S, Bomback AS, Canetta PA, Appel GB, Radhakrishnan J, ... ... Choi M, et al. Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nature Genetics. PMID 37337107 DOI: 10.1038/s41588-023-01422-x |
0.458 |
|
| 2022 |
Park S, Lee H, Lee J, Lee S, Cho S, Huh H, Kim JY, Park M, Lee S, Kim Y, Choi M, Joo KW, Kim YS, Yang SH, Kim DK. RNA-seq profiling of tubulointerstitial tissue reveals a potential therapeutic role of dual anti-phosphatase 1 in glomerulonephritis. Journal of Cellular and Molecular Medicine. PMID 35488446 DOI: 10.1111/jcmm.17340 |
0.619 |
|
| 2021 |
Yoo Y, Park SY, Jo EB, Choi M, Lee KW, Hong D, Lee S, Lee CR, Lee Y, Um JY, Park JB, Seo SW, Choi YL, Kim S, Lee SG, ... Choi M, et al. Overexpression of Replication-Dependent Histone Signifies a Subset of Dedifferentiated Liposarcoma with Increased Aggressiveness. Cancers. 13. PMID 34206586 DOI: 10.3390/cancers13133122 |
0.775 |
|
| 2021 |
Lee S, Shin CH, Lee J, Jeong SD, Hong CR, Kim JD, Kim AR, Pak B, Son S, Kokhan O, Yoo T, Ko JS, Sohn YB, Kim OH, Ko JM, ... ... Choi M, et al. Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome. Blood. PMID 34115847 DOI: 10.1182/blood.2021010913 |
0.672 |
|
| 2021 |
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, et al. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 12: 2558. PMID 33963192 DOI: 10.1038/s41467-021-22627-w |
0.739 |
|
| 2021 |
Kim JS, Jeon H, Lee H, Ko JM, Kim Y, Choi M, Nishimura G, Kim OH, Cho TJ. Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome. Human Genome Variation. 8: 17. PMID 33963180 DOI: 10.1038/s41439-021-00149-7 |
0.339 |
|
| 2020 |
Seo J, Lee CR, Paeng JC, Kwon HW, Lee D, Kim SC, Han J, Ku JL, Chae JH, Lim BC, Choi M. Biallelic mutations in ABCB1 display recurrent reversible encephalopathy. Annals of Clinical and Translational Neurology. PMID 32627353 DOI: 10.1002/Acn3.51125 |
0.407 |
|
| 2020 |
Han JY, Kim SY, Cheon JE, Choi M, Lee JS, Chae JH. A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel Mutations. Journal of Clinical Neurology (Seoul, Korea). 16: 338-340. PMID 32319256 DOI: 10.3988/Jcn.2020.16.2.338 |
0.397 |
|
| 2020 |
Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S, ... ... Choi M, et al. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. PMID 32169171 DOI: 10.1016/J.Neuron.2020.02.021 |
0.335 |
|
| 2020 |
Lee JS, Yoo T, Lee M, Lee Y, Jeon E, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH. Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes. Clinical Genetics. PMID 32020600 DOI: 10.1111/Cge.13713 |
0.395 |
|
| 2020 |
Lee Y, Park S, Lee JS, Kim SY, Cho J, Yoo Y, Lee S, Yoo T, Lee M, Seo J, Lee J, Kneissl J, Lee J, Jeon H, Jeon EY, ... ... Choi M, et al. Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population. Scientific Reports. 10: 1413. PMID 31996704 DOI: 10.1038/S41598-020-58101-8 |
0.799 |
|
| 2019 |
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, ... ... Choi M, et al. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain : a Journal of Neurology. PMID 31834374 DOI: 10.1093/Brain/Awz379 |
0.401 |
|
| 2019 |
Kim H, Lee JS, Lee Y, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH. Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features. Yonsei Medical Journal. 60: 1209-1215. PMID 31769253 DOI: 10.3349/Ymj.2019.60.12.1209 |
0.311 |
|
| 2019 |
Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, ... ... Choi M, et al. Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. American Journal of Human Genetics. PMID 31587868 DOI: 10.1016/J.Ajhg.2019.09.009 |
0.706 |
|
| 2019 |
Shin J, Kim D, Kim HL, Choi M, Koh Y, Yoon SS. Oncogenic effects of germline variants in lysosomal storage disease genes. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31341245 DOI: 10.1038/S41436-019-0588-9 |
0.315 |
|
| 2019 |
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, ... ... Choi M, et al. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nature Communications. 10: 3094. PMID 31300657 DOI: 10.1038/S41467-019-10910-W |
0.772 |
|
| 2019 |
Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Lee Y, Shin YB, Wright NT, ... Choi M, et al. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Human Mutation. PMID 31264822 DOI: 10.1002/Humu.23760 |
0.76 |
|
| 2019 |
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Choi M, et al. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 2079. PMID 31048695 DOI: 10.1038/s41467-019-10161-9 |
0.646 |
|
| 2019 |
Chang HR, Cho SY, Lee JH, Lee E, Seo J, Lee HR, Cavalcanti DP, Mäkitie O, Valta H, Girisha KM, Lee C, Neethukrishna K, Bhavani GS, Shukla A, Nampoothiri S, ... ... Choi M, et al. Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia. American Journal of Human Genetics. PMID 30773278 DOI: 10.1016/J.Ajhg.2019.01.009 |
0.453 |
|
| 2019 |
Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Choi M, et al. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 883. PMID 30770872 DOI: 10.1038/S41467-019-08800-2 |
0.664 |
|
| 2018 |
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Choi M, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 9: 4619. PMID 30397230 DOI: 10.1038/S41467-018-06014-6 |
0.734 |
|
| 2018 |
Hong CR, Lee S, Hong KT, Choi JY, Shin HY, Choi M, Kang HJ. Successful haploidentical transplantation with post-transplant cyclophosphamide for activated phosphoinositide 3-kinase δ syndrome. The Journal of Allergy and Clinical Immunology. in Practice. PMID 29890288 DOI: 10.1016/J.Jaip.2018.05.029 |
0.612 |
|
| 2018 |
Kadara H, Choi M, Zhang J, Parra ER, Rodriguez-Canales J, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Yoo Y, Kalhor N, Moran C, Rimm D, Swisher S, et al. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Annals of Oncology : Official Journal of the European Society For Medical Oncology. 29: 1072. PMID 29688333 DOI: 10.1093/Annonc/Mdx062 |
0.453 |
|
| 2018 |
Yoo D, Kim HJ, Lee JS, Lee S, Kim SY, Choi M, Chae JH, Jeon B. Early-onset generalized dystonia starting in the lower extremities in a patient with a novel ANO3 variant. Parkinsonism & Related Disorders. PMID 29449182 DOI: 10.1016/J.Parkreldis.2018.02.012 |
0.659 |
|
| 2018 |
Lee JS, Choi JM, Lee M, Kim SY, Lee S, Lim BC, Cheon JE, Kim IO, Kim KJ, Choi M, Seong MW, Chae JH. Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. Brain & Development. PMID 29439846 DOI: 10.1016/J.Braindev.2018.01.009 |
0.705 |
|
| 2018 |
Kim H, Lee S, Choi M, Kim H, Hwang H, Choi J, Chae JH, Kim KJ, Lim BC. Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation. Brain & Development. PMID 29428275 DOI: 10.1016/J.Braindev.2018.01.006 |
0.73 |
|
| 2018 |
Chowdhury T, Yoo Y, Seo Y, Dho YS, Kim S, Choi A, Choi M, Park SH, Park CK, Lee SH, Lee JY. Genomic analysis of synchronous intracranial meningiomas with different histological grades. Journal of Neuro-Oncology. PMID 29423538 DOI: 10.1007/S11060-018-2772-1 |
0.763 |
|
| 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 |
0.541 |
|
| 2018 |
Yoo Y, Cho J, Choi M. Reply to "A novel mutation in the TM6 domain of GABBR2 leads to a Rett-like phenotype". Annals of Neurology. PMID 29377213 DOI: 10.1002/Ana.25154 |
0.786 |
|
| 2018 |
Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL, Rodan LH, Tan WH, ... ... Choi M, et al. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. PMID 29315614 DOI: 10.1111/Epi.13986 |
0.819 |
|
| 2018 |
Choi YY, Woo MH, Kim GB, Song MK, Lee SY, Bae EJ, Choi M, Kim Y. A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report Journal of Genetic Medicine. 15: 20-23. DOI: 10.5734/Jgm.2018.15.1.20 |
0.361 |
|
| 2018 |
Jeong CW, Cho JS, Lee M, Choi M, Song C, Lee S, Ku JH, Kwak C, Kim HH. Comprehensive genetic characterization of TFE3-positive renal cell carcinoma. Journal of Clinical Oncology. 36: 635-635. DOI: 10.1200/Jco.2018.36.6_Suppl.635 |
0.442 |
|
| 2017 |
Kang HG, Lee M, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M, Cheong HI. Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome. Experimental & Molecular Medicine. 49: e414. PMID 29244787 DOI: 10.1038/Emm.2017.227 |
0.699 |
|
| 2017 |
Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, et al. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. American Journal of Human Genetics. PMID 29106825 DOI: 10.1016/J.Ajhg.2017.09.015 |
0.389 |
|
| 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 |
0.459 |
|
| 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 |
0.768 |
|
| 2017 |
Kwak SH, Chae J, Choi S, Kim MJ, Choi M, Chae JH, Cho EH, Hwang TJ, Jang SS, Kim JI, Park KS, Bang YJ. Findings of a 1303 Korean whole-exome sequencing study. Experimental & Molecular Medicine. 49: e356. PMID 28706299 DOI: 10.1038/Emm.2017.142 |
0.379 |
|
| 2017 |
Sook Lee J, Seo J, Cho A, Chan Lim B, Choi M, Kim JW, Kim OH, Cho TJ, Chae JH. Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy. Brain & Development. PMID 28668235 DOI: 10.1016/J.Braindev.2017.04.020 |
0.442 |
|
| 2017 |
Lee S, Seo J, Park J, Nam JY, Choi A, Ignatius JS, Bjornson RD, Chae JH, Jang IJ, Lee S, Park WY, Baek D, Choi M. Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population. Scientific Reports. 7: 4287. PMID 28655895 DOI: 10.1038/S41598-017-04642-4 |
0.675 |
|
| 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 |
0.587 |
|
| 2017 |
Kadara H, Choi M, Zhang J, Parra ER, Rodriguez-Canales J, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Yoo Y, Kalhor N, Moran C, Rimm D, Swisher S, et al. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Annals of Oncology : Official Journal of the European Society For Medical Oncology. PMID 28368511 DOI: 10.1093/annonc/mdx062 |
0.38 |
|
| 2017 |
Choi M, Kadara H, Zhang J, Parra ER, Rodriguez-Canales J, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Kim K, Kalhor N, Moran C, Rimm D, Swisher S, et al. Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function. Annals of Oncology : Official Journal of the European Society For Medical Oncology. 28: 83-89. PMID 28177435 DOI: 10.1093/Annonc/Mdw437 |
0.591 |
|
| 2017 |
Kim TH, Tyndel MS, Kim HJ, Ahn JS, Choi SH, Park HJ, Kim YK, Yang DH, Lee JJ, Jung SH, Kim SY, Min YH, Cheong JW, Sohn SK, Moon JH, ... Choi M, et al. The clonal origins of leukemic progression of myelodysplasia. Leukemia. PMID 28090092 DOI: 10.1038/Leu.2017.17 |
0.483 |
|
| 2016 |
Lee JS, Lee S, Choi M, Lim BC, Choi J, Kim KJ, Cheon JE, Kim IO, Chae JH. eIF2B-related multisystem disorder in two sisters with atypical presentations. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 28041799 DOI: 10.1016/J.Ejpn.2016.07.010 |
0.637 |
|
| 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 |
0.582 |
|
| 2016 |
Ko JM, Cho JS, Yoo Y, Seo J, Choi M, Chae JH, Lee HR, Cho TJ. Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations: Variable Severity in Psychomotor Development and Musculoskeletal Manifestation. Journal of Child Neurology. PMID 27777327 DOI: 10.1177/0883073816674095 |
0.8 |
|
| 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 |
0.553 |
|
| 2016 |
Kadara H, Choi M, Zhang J, Cuentas EP, Canales JR, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Yoo Y, Kalhor N, Moran C, Rimm D, Swisher S, et al. Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up. Annals of Oncology : Official Journal of the European Society For Medical Oncology. PMID 27687306 DOI: 10.1093/Annonc/Mdw436 |
0.467 |
|
| 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 |
0.45 |
|
| 2016 |
Lee S, Choi M. Ultra-rare Disease and Genomics-Driven Precision Medicine. Genomics & Informatics. 14: 42-5. PMID 27445646 DOI: 10.5808/Gi.2016.14.2.42 |
0.66 |
|
| 2016 |
Kim SY, Choi SA, Lee S, Lee JS, Hong CR, Lim BC, Kang HJ, Kim KJ, Park SH, Choi M, Chae JH. Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations. American Journal of Medical Genetics. Part A. PMID 27411168 DOI: 10.1002/Ajmg.A.37846 |
0.721 |
|
| 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 |
0.776 |
|
| 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 |
0.604 |
|
| 2016 |
Han SS, Yang SH, Choi M, Kim HR, Kim K, Lee S, Moon KC, Kim JY, Lee H, Lee JP, Jung JY, Kim S, Joo KW, Lim CS, Kang SW, et al. The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy. Journal of the American Society of Nephrology : Jasn. PMID 27068226 DOI: 10.1681/Asn.2015060677 |
0.654 |
|
| 2016 |
Ko JM, Seo J, Choi M, Song J, Lee KA, Shin CH. Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation. Annals of Clinical and Laboratory Science. 46: 97-101. PMID 26927351 |
0.341 |
|
| 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 |
0.442 |
|
| 2016 |
Wang SK, Hu Y, Yang J, Smith CE, Richardson AS, Yamakoshi Y, Lee YL, Seymen F, Koruyucu M, Gencay K, Lee M, Choi M, Kim JW, Hu JC, Simmer JP. Fam83h null mice support a neomorphic mechanism for human ADHCAI. Molecular Genetics & Genomic Medicine. 4: 46-67. PMID 26788537 DOI: 10.1002/Mgg3.178 |
0.338 |
|
| 2016 |
Yang J, Kawasaki K, Lee M, Reid BM, Nunez SM, Choi M, Seymen F, Koruyucu M, Kasimoglu Y, Estrella-Yuson N, Lin BP, Simmer JP, Hu JC. The dentin phosphoprotein repeat region and inherited defects of dentin. Molecular Genetics & Genomic Medicine. 4: 28-38. PMID 26788535 DOI: 10.1002/Mgg3.176 |
0.43 |
|
| 2016 |
Kim T, Tyndel M, Kim HJ, Ahn J, Choi SH, Park HJ, Kim Y, Yang D, Lee J, Jung S, Kim SY, Min Y, Cheong J, Sohn SK, Moon JH, ... Choi M, et al. The Clonal Origins of Leukemic Progression of Myelodysplasia Blood. 128: 4307-4307. DOI: 10.1182/Blood.V128.22.4307.4307 |
0.428 |
|
| 2016 |
Kadara H, Choi M, Zhang J, Cuentas EP, Canales JR, Gaffney S, Zhao Z, Behrens C, Fujimoto J, Chow C, Kalhor N, Moran C, Rimm D, Swisher SG, Gibbons DL, et al. Abstract 89: Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma Cancer Research. 76: 89-89. DOI: 10.1158/1538-7445.Am2016-89 |
0.54 |
|
| 2016 |
Youk J, Cho S, Kim D, Koh Y, Kim I, Choi M, Yoon S. Abstract 5225: CDK11B, PTPRN2 and WDPCP were frequently duplicated genes in refractory/relapsed normal karyotype AML patients: Identifying structural variations using whole genome sequencing Cancer Research. 76: 5225-5225. DOI: 10.1158/1538-7445.Am2016-5225 |
0.383 |
|
| 2016 |
Choi M, Kadara H, Zhang J, Cuentas EP, Canales JR, Gaffney SG, Zhao Z, Behrens C, Fujimoto J, Chow C, Kalhor N, Moran C, Rimm D, Swisher S, Gibbons DL, et al. Abstract 142: Mutation and immune profiles in early-stage lung squamous cell carcinoma Cancer Research. 76: 142-142. DOI: 10.1158/1538-7445.Am2016-142 |
0.582 |
|
| 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 |
0.396 |
|
| 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 |
0.404 |
|
| 2015 |
Lee S, Moon JS, Lee CR, Kim HE, Baek SM, Hwang S, Kang GH, Seo JK, Shin CH, Kang HJ, Ko JS, Park SG, Choi M. Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4. The Journal of Allergy and Clinical Immunology. PMID 26478010 DOI: 10.1016/J.Jaci.2015.08.036 |
0.641 |
|
| 2015 |
Choi MC, Heo JH, Jang JH, Jung SG, Park H, Joo WD, Lee C, Lee JH, Lee JM, Hwang YY, Kim SJ. Germline Mutations of BRCA1 and BRCA2 in Korean Ovarian Cancer Patients: Finding Founder Mutations. International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society. 25: 1386-1391. PMID 26402875 DOI: 10.1097/IGC.0000000000000529 |
0.302 |
|
| 2015 |
Khorram D, Choi M, Roos BR, Stone EM, Kopel T, Allen R, Alward WL, Scheetz TE, Fingert JH. Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. Molecular Vision. 21: 1017-23. PMID 26392740 |
0.356 |
|
| 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 |
0.365 |
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| 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 |
0.366 |
|
| 2015 |
Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH. Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation. Gene. PMID 25936994 DOI: 10.1016/J.Gene.2015.04.075 |
0.72 |
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| 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 |
0.781 |
|
| 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 |
0.506 |
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| 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 |
0.555 |
|
| 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 |
0.696 |
|
| 2015 |
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, Croteau-Chonka DC, Esko T, Fall T, Ferreira T, Gustafsson S, ... ... Choi M, et al. Genetic studies of body mass index yield new insights for obesity biology. Nature. 518: 197-206. PMID 25673413 DOI: 10.1038/Nature14177 |
0.454 |
|
| 2015 |
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, Workalemahu T, Wu JM, Buchkovich ML, Heard-Costa NL, Roman TS, ... ... Choi M, et al. New genetic loci link adipose and insulin biology to body fat distribution. Nature. 518: 187-96. PMID 25673412 DOI: 10.1038/Nature14132 |
0.465 |
|
| 2015 |
Yang J, Wang SK, Choi M, Reid BM, Hu Y, Lee YL, Herzog CR, Kim-Berman H, Lee M, Benke PJ, Lloyd KC, Simmer JP, Hu JC. Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds. Molecular Genetics & Genomic Medicine. 3: 40-58. PMID 25629078 DOI: 10.1002/Mgg3.111 |
0.342 |
|
| 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 |
0.802 |
|
| 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 |
0.781 |
|
| 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 |
0.76 |
|
| 2015 |
Shirane S, Araki M, Morishita S, Edahiro Y, Takei H, Yoo Y, Choi M, Sunami Y, Hironaka Y, Noguchi M, Koike M, Noda N, Ohsaka A, Komatsu N. JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms. Haematologica. 100: e46-8. PMID 25398833 DOI: 10.3324/Haematol.2014.115113 |
0.797 |
|
| 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. Author response: Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism Elife. DOI: 10.7554/Elife.06315.019 |
0.744 |
|
| 2015 |
Rahman M, Lee W, Choi M. The role of de novo variants in complex and rare diseases pathogenesis Journal of Genetic Medicine. 12: 1-5. DOI: 10.5734/Jgm.2015.12.1.1 |
0.372 |
|
| 2015 |
Kim TS, Zhang Z, Tyndel M, Ahn J, Kim Y, Choi SH, Kim H, Lee M, Choi M, Lipton JH, Kim DDH. Whole Exome Sequencing Reveals the Landscape of Clonal Evolution from MDS to AML Progression Blood. 126: 2596-2596. DOI: 10.1182/Blood.V126.23.2596.2596 |
0.478 |
|
| 2015 |
Skoulidis F, Byers L, Diao L, Papadimitrakopoulou V, 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. Abstract 968: Co-occurring genomic alterations define major subsets ofKRAS-mutant lung adenocarcinoma (LUAC) with distinct biology and therapeutic vulnerabilities Cancer Research. 75: 968-968. DOI: 10.1158/1538-7445.Am2015-968 |
0.405 |
|
| 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 |
0.327 |
|
| 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 |
0.508 |
|
| 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 |
0.565 |
|
| 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 |
0.453 |
|
| 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 |
0.706 |
|
| 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 |
0.558 |
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| 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 |
0.773 |
|
| 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 |
0.606 |
|
| 2014 |
Wang SK, Choi M, Richardson AS, Reid BM, Lin BP, Wang SJ, Kim JW, Simmer JP, Hu JC. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. Human Molecular Genetics. 23: 2157-63. PMID 24305999 DOI: 10.1093/Hmg/Ddt611 |
0.42 |
|
| 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 |
0.509 |
|
| 2014 |
Goh G, Scholl UI, Healy JM, Choi M, Prasad ML, Nelson-Williams C, Kuntsman JW, Korah R, Suttorp A, Dietrich D, Haase M, Willenberg HS, Stålberg P, Hellman P, Åkerström G, et al. Corrigendum: Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors Nature Genetics. 46: 759-759. DOI: 10.1038/Ng0714-759B |
0.752 |
|
| 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 |
0.617 |
|
| 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 |
0.758 |
|
| 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 |
0.657 |
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| 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 |
0.806 |
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| 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 |
0.517 |
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| 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 |
0.768 |
|
| 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 |
0.602 |
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| 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 |
0.543 |
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| 2013 |
Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Ozduman K, Avşar 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 |
0.696 |
|
| 2012 |
Goh G, Choi M. Application of whole exome sequencing to identify disease-causing variants in inherited human diseases. Genomics & Informatics. 10: 214-9. PMID 23346032 DOI: 10.5808/Gi.2012.10.4.214 |
0.698 |
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| 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 |
0.532 |
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| 2012 |
Åkerström 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 |
0.593 |
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| 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 |
0.779 |
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| 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 |
0.583 |
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| 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 |
0.503 |
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| 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 |
0.483 |
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| 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 |
0.734 |
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| 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 |
0.629 |
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| 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 |
0.822 |
|
| 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. Haplotype analysis of rs9275224, rs2856717, rs9275424, and rs9275596 at the HLA-DQB1/DRB1 locus. Plos Genetics. DOI: 10.1371/Journal.Pgen.1002765.T003 |
0.411 |
|
| 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 |
0.783 |
|
| 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 |
0.577 |
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| 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 |
0.725 |
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| 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 |
0.542 |
|
| 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 |
0.725 |
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| 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 |
0.474 |
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| 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 |
0.519 |
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| 2011 |
Choi M, Klingensmith J, Pachori A. BMP signaling as a context-dependent regulator of myocardial proliferation and apoptosis: Relevance to congenital heart defects and adult heart disease Developmental Biology. 356: 224-225. DOI: 10.1016/J.Ydbio.2011.05.369 |
0.641 |
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| 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 |
0.722 |
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| 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 |
0.718 |
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| 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 |
0.599 |
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| 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 |
0.566 |
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| 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 |
0.726 |
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| 2009 |
Klingensmith J, Choi M, Davenport C, Que J. BMP signaling regulates progenitors of the mammalian heart Developmental Biology. 331: 494. DOI: 10.1016/J.Ydbio.2009.05.406 |
0.736 |
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| 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 |
0.636 |
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| 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 |
0.716 |
|
| 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 |
0.685 |
|
| 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 |
0.64 |
|
| 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 |
0.65 |
|
| 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 |
0.643 |
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