Ecosyste.ms: Papers

10.1002/cam4.2036

Hyperammonemia after capecitabine associated with occult impairment of the urea cycle
Cited by: 5
Author(s): Gilbert Chu, Julia Salzman
Software Mentions: 1
Published: over 5 years ago

10.1002/cam4.1989

The diagnostic accuracy of circulating free DNA for the detection of KRAS mutation status in colorectal cancer: A meta‐analysis
Cited by: 15
Author(s): Wenli Xie, Li Xie, Xianrang Song
Software Mentions: 1
Published: almost 6 years ago

10.1002/cam4.2023

Retinoblastoma mutation predicts poor outcomes in advanced non small cell lung cancer
Cited by: 38
Author(s): Priyanka Bhateja, Michelle Chiu, Gary Wildey, Mary Beth Lipka, Pingfu Fu, Michael Yang, Fatemeh Ardeshir‐Larijani, Neelesh Sharma, Afshin Dowlati
Software Mentions: 1
Published: almost 6 years ago

10.1002/cam4.1782

Circulating microRNA biomarkers for lung cancer detection in Western populations
Cited by: 41
Author(s): Haixin Yu, Zhong Guan, Katarina Ćuk, Hermann Brenner, Yan Zhang
Software Mentions: 1
Published: about 6 years ago

10.1002/cam4.796

No associations of a set of SNPs in the Vascular Endothelial Growth Factor (VEGF) and Matrix Metalloproteinase (MMP) genes with survival of colorectal cancer patients
Cited by: 3
Author(s): Lydia Annabel Dan, Salem Werdyani, Jingxiong Xu, Konstantin Shestopaloff, Angela J. Hyde, Elizabeth Dicks, Ban Younghusband, Jane Green, Patrick S. Parfrey, Wei Xu, Sevtap Savas
Software Mentions: 1
Published: over 8 years ago

10.1002/cam4.2432

Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients
Cited by: 8
Author(s): Yoshimi Kiyozumi, Hiroyuki Matsubayashi, Yasue Horiuchi, Satomi Higashigawa, Takuma Oishi, Masato Abe, Sumiko Ohnami, Kenichi Urakami, Takeshi Nagashima, Masatoshi Kusuhara, Hideaki Miyake, Ken Yamaguchi
Software Mentions: 1
Published: over 5 years ago

10.1155/2018/3028145

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
Cited by: 4
Author(s): Ivanka Dimova, Ivo Kremensky
Software Mentions: 1
Published: over 6 years ago

10.1155/2019/1398250

Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the <i>CDKN1C</i> Gene, a Further Case
Cited by: 12
Author(s): Ataf Sabir, Gavin Ryan, Zainab O. Mohammed, Jeremy Kirk, Nigel Kiely, Manigandan Thyagarajan, Trevor Cole
Software Mentions: 1
Published: almost 5 years ago

10.3390/ma10121349

Evaluation of Shear Strength of RC Beams with Multiple Interfaces Formed before Initial Setting Using 3D Printing Technology
Cited by: 27
Author(s): Kyeongjin Kim, Sang Min Park, Woo Seok Kim, Yoseok Jeong, Jaeha Lee
Software Mentions: 1
Published: about 7 years ago

10.1097/MD.0000000000003183

Accuracy of the Bronchoalveolar Lavage Enzyme-Linked Immunospot Assay for the Diagnosis of Pulmonary Tuberculosis
Cited by: 7
Author(s): Caishuang Pang, Yanqiu Wu, Chun Wan, Konglong Shen, Yuzhu Hu, Ting Yang, Yongchun Shen, Fuqiang Wen
Software Mentions: 1
Published: almost 9 years ago

10.1097/MD.0000000000015977

IP-10 for the diagnosis of tuberculosis in children
Cited by: 4
Author(s): Weijun Zhang
Software Mentions: 1
Published: over 5 years ago

10.1097/MD.0000000000015235

Melioidosis, an emerging infectious disease in the Midwest Brazil
Cited by: 3
Author(s): Cláudia Elizabeth Volpe Chaves, Ana Cláudia Souza Rodrigues, Mara Luci Gonçalves Galiz Lacerda, Caroline Tieppo Flores de Oliveira, Suse Barbosa Castilho, Caroline Franciscato, Ivson Cassiano de Oliveira Santos, Ana Paula D’Alincourt Carvalho-Assef, Leonardo Roever, Sandra Maria do Valle Leone de Oliveira, Anamaria Mello Miranda Paniago
Software Mentions: 1
Published: over 5 years ago

10.1097/MD.0000000000026036

The value of long noncoding RNAs for predicting the recurrence of endometriosis
Cited by: 5
Author(s): Yihong Chen, Xinghui Liu, Lei He
Software Mentions: 1
Published: over 3 years ago

10.1097/MD.0000000000003571

Diagnostic Performances of 99mTc-Methoxy Isobutyl Isonitrile Scan in Predicting the Malignancy of Lung Lesions
Cited by: 4
Author(s): Zhang Shuxin, Yang Liu
Software Mentions: 1
Published: over 8 years ago

10.1128/MRA.00735-21

Draft Genome Sequences of 12 Clostridium tyrobutyricum Strains Isolated from Raw Milk and Cheese
Cited by: 2
Author(s): Lucija Podržaj, Johanna Burtscher, Konrad J. Domig
Software Mentions: 1
Published: about 3 years ago

10.1128/MRA.00613-19

Complete Genome Sequence of Microbacterium sp. Strain SGAir0570, Isolated from Tropical Air Collected in Singapore
Cited by: 2
Author(s): Namrata Kalsi, Daniela I. Drautz–Moses, Akira Uchida, Rikky W. Purbojati, James N. I. Houghton, Caroline Chénard, Anthony Wong, Sandra Kolundžija, Megan E. Clare, Kavita K. Kushwaha, Alexander Putra, Nicolas E. Gaultier, Balakrishnan N. V. Premkrishnan, Cassie E. Heinle, Vineeth Kodengil Vettath, Ana Carolina M. Junqueira, Stephan C. Schuster
Software Mentions: 1
Published: over 5 years ago

10.1128/MRA.00530-19

Complete Genome Sequence of Thermoactinomyces vulgaris Strain CDF, a Thermophilic Bacterium Capable of Degrading Chicken Feathers
Cited by: 2
Author(s): Binbin Li, Feng Liu, Yushan Ren, Yidi Ding, Yu Li, Xiaofeng Tang, Bing Tang
Software Mentions: 1
Published: over 5 years ago

10.1186/s40779-018-0166-5

Infectious diseases during the European Union training mission Mali (EUTM MLI) – a four-year experience
Cited by: 7
Author(s): Hagen Frickmann, Ralf Matthias Hagen, Florian Geiselbrechtinger, Nagpal Hoysal
Software Mentions: 1
Published: over 6 years ago

10.1186/s12943-020-01194-6

Novel insight into the regulatory roles of diverse RNA modifications: Re-defining the bridge between transcription and translation
Cited by: 94
Author(s): Hanhan Shi, Peiwei Chai, Renbing Jia
Software Mentions: 1
Published: over 4 years ago

10.1186/s13039-019-0421-9

The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects
Cited by: 8
Author(s): Zhiwen Shi, Shuxia Chen, Xiao Han, Rui Peng, Jin Ping Luo, Sen Yang, Yufang Zheng, Hongyan Wang
Software Mentions: 1
Published: almost 6 years ago

10.3390/molecules26092536

Development of Novel Potential Pleiotropic Compounds of Interest in Alzheimer’s Disease Treatment through Rigidification Strategy
Cited by: 4
Author(s): Cédric Lecoutey, Rémi Legay, Audrey Davis, Jana Sopková−de Oliveira Santos, Patrick Dallemagne, Christophe Rochais
Software Mentions: 1
Published: over 3 years ago

10.1002/mgg3.1692

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
Cited by: 1
Author(s): Beattie Rh Sturrock, Ellen Macnamara, Peter J. McGuire, Shannon Kruk, Ivan Yang, Jennifer L. Murphy, Cyndi Tifft, Eliza Gordon-Lipkin
Software Mentions: 1
Published: over 3 years ago

10.1002/mgg3.261

Identification and functional analysis of c.422_423InsT, a novel mutation of the<i>HNF1A</i>gene in a patient with diabetes
Cited by: 7
Author(s): Jesús Miguel Magaña-Cerino, Juan Pedro Luna-Arias, María Luisa Labra-Barrios, Bartolo Avendaño-Borromeo, Xavier Miguel Boldo-León, Mirian Carolina Martínez-López
Software Mentions: 1
Published: about 8 years ago

10.1002/mgg3.603

Low frequency of <i>POLD1</i> and <i>POLE</i> exonuclease domain variants in patients with multiple colorectal polyps
Cited by: 5
Author(s): Fadwa A. Elsayed, Sophie Tops, Maartje Nielsen, Dina Ruano, Hans F. A. Vasen, Hans Morreau, Frederik J. Hes, Tom van Wezel
Software Mentions: 1
Published: almost 6 years ago

10.1002/mgg3.1434

Two novel <i>KCNA1</i> variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders
Cited by: 11
Author(s): Haiming Yuan, Huihua Yuan, Qing-Ming Wang, Wanhua Ye, Ruixia Yao, Wanfang Xu, Yanhui Liu
Software Mentions: 1
Published: over 4 years ago

10.1002/mgg3.1008

Sudden unexpected death in asymptomatic infants due to <i>PPA2</i> variants
Cited by: 14
Author(s): Colin K.L. Phoon, Matthew Halvorsen, David B. Goldstein, Rachel Rabin, Frank Cecchin, Laura A. Crandall, Orrin Devinsky
Software Mentions: 1
Published: about 5 years ago

10.1002/mgg3.182

The pathogenicity of genetic variants previously associated with left ventricular non‐compaction
Cited by: 6
Author(s): Yeganeh Abbasi, Javad Jabbari, Reza Jabbari, Runqiang Yang, Bjarke Risgaard, Lars Køber, Stig Haunsø, Jacob Tfelt-Hansen
Software Mentions: 1
Published: almost 9 years ago

10.1002/mgg3.1470

Novel mutations in the <i>PLCZ1</i> gene associated with human low or failed fertilization
Cited by: 10
Author(s): Ping Yuan, Lingyan Zheng, Linlin Hao, Qiyuan Lin, Songbang Ou, Yuqin Zhu, Luhua Lai, Qingxue Zhang, Zuyong He, Wenjun Wang
Software Mentions: 1
Published: over 4 years ago

10.1002/mgg3.1638

Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly
Cited by: 0
Author(s): Lin Hu, Huanzheng Li, Guang Qing Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang
Software Mentions: 1
Published: almost 4 years ago

10.1002/mgg3.825

A novel homozygous initiation codon variant associated with infantile alpha‐Bcrystallinopathy in a Chinese family
Cited by: 10
Author(s): Keze Ma, Dong Luo, Tian Tian, Ning Li, Xiaoguang He, Chunbao Rao, Beilong Zhong, Xiaomei Lü
Software Mentions: 1
Published: over 5 years ago

10.1002/mgg3.236

A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of <i> <scp>KIF</scp> 2A </i>
Cited by: 18
Author(s): Guoling Tian, Ana G. Cristancho, Holly Dubbs, Grant T. Liu, Nicholas J. Cowan, Ethan M. Goldberg
Software Mentions: 1
Published: about 8 years ago

10.1002/mgg3.245

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy
Cited by: 27
Author(s): Nina Nouhravesh, Gustav Ahlberg, Jonas Ghouse, Charlotte Andreasen, Jesper Hastrup Svendsen, Stig Haunsø, Henning Bundgaard, Peter Weeke, Morten S. Olesen
Software Mentions: 1
Published: about 8 years ago

10.1002/mgg3.1482

Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations
Cited by: 4
Author(s): Lv‐Yin Huang, Liyan Li, Shiu-Shiung Lin, Juanjuan Chen, Kun Li, Daiming Fan, Wangjie Jin, Yihong Li, Xu Yang, Yufeng Xiong, Fenxia Li, Xiaobo Yang, Ming Li, Qiang Li
Software Mentions: 1
Published: over 4 years ago

10.1002/mgg3.467

Whole exome sequencing identifies novel predisposing genes in neural tube defects
Cited by: 21
Author(s): Philippe Lemay, Patrizia De Marco, Monica Traverso, Elisa Merello, Alexandre Dionne‐Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, François Audibert, Jacques L. Michaud, Armando Cama, Guy A. Rouleau, Zoha Kibar, Valeria Capra
Software Mentions: 1
Published: about 6 years ago

10.1002/mgg3.1443

Gene mutations associated with early onset familial Alzheimer’s disease in China: An overview and current status
Cited by: 7
Author(s): Qi Qin, Yun Yin, Yan Wang, Yuanyuan Lu, Yi Tang, Jianping Jia
Software Mentions: 1
Published: over 4 years ago

10.1002/mgg3.17

Identification and biochemical analysis of a novel<i>APOB</i>mutation that causes autosomal dominant hypercholesterolemia
Cited by: 40
Author(s): Ellen Thomas, Santosh S. Atanur, Penny J. Norsworthy, Vesela Encheva, Ambrosius P. Snijders, Laurence Gamé, Jana Vandrovcová, Afshan Siddiq, Mary Seed, Anne K. Soutar, Timothy J. Aitman
Software Mentions: 1
Published: over 11 years ago

10.1002/mgg3.1309

The role of sodium channels in sudden unexpected death in pediatrics
Cited by: 11
Author(s): Anne Rochtus, Richard D. Goldstein, Ingrid A. Holm, Catherine A. Brownstein, Eduardo Pérez‐Palma, Robin L. Haynes, Dennis Lal, Annapurna Poduri
Software Mentions: 1
Published: over 4 years ago

10.1002/mgg3.234

A novel de novo<i>TBX5</i>mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function
Cited by: 17
Author(s): Martina Dreßen, Harald Lahm, Armin Lahm, Klaudia Wolf, S. Doppler, Marcus-André Deutsch, Julie Cleuziou, Jelena Pabst von Ohain, Patrick Schön, Peter Ewert, Ivan Malčić, Rüdiger Lange, Markus Krane
Software Mentions: 1
Published: over 8 years ago

10.1002/mgg3.297

Genetic variation spectrum in <i>ATP7B</i> gene identified in Latvian patients with Wilson disease
Cited by: 4
Author(s): Agnese Zariņa, Ieva Tolmane, Madara Kreile, Aleksandrs Chernushenko, Gunta Cernevska, Ieva Puķīte, Ieva Mičule, Zita Krūmiņa, Astrīda Krūmiņa, Baiba Rozentāle, Linda Piekuse
Software Mentions: 1
Published: over 7 years ago

10.1002/mgg3.1196

Novel IRF6 mutations in Chinese Han families with Van der Woude syndrome
Cited by: 2
Author(s): Yang Yu, Ya-Tao Wan, Chuanqi Qin, Haitang Yue, Zhuan Bian, Maoxian He
Software Mentions: 1
Published: almost 5 years ago

10.1002/mgg3.1552

Novel mutations in hyper‐IgM syndrome type 2 and X‐linked agammaglobulinemia detected in three patients with primary immunodeficiency disease
Cited by: 3
Author(s): Xihui Chen, Fangfang Liu, Lijuan Yuan, Meng Zhang, Kun Chen, Yuanming Wu
Software Mentions: 1
Published: almost 4 years ago

10.1002/mgg3.370

Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in <i><scp>RPH</scp>3A</i>
Cited by: 8
Author(s): Ricardo A. Maselli, Jessica Vázquez, Leah A. Schrumpf, Juan Arredondo, Marian Lara, Jonathan B. Strober, Peter Pytel, Robert L. Wollmann, Michael J. Ferns
Software Mentions: 1
Published: almost 7 years ago

10.1002/mgg3.1408

An update of pathogenic variants in <i>ASPM</i>, <i>WDR62, CDK5RAP2</i>,<i> STIL, CENPJ,</i> and<i> CEP135</i> underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
Cited by: 15
Author(s): Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Emrah Kaygusuz, Muhammad Zakaria, Shafaq Ramzan, Saif ul Haque, Asif Mir, Iram Anjum, Mehak Fiaz, Zafar Ali, Muhammad Tariq, Neelam Saba, Wajid Hussain, Birgit Budde, Saba Irshad, Angelika A. Noegel, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Software Mentions: 1
Published: over 4 years ago

10.1002/mgg3.901

Molecular investigation in Chinese patients with primary carnitine deficiency
Cited by: 7
Author(s): Yanghui Zhang, Haoxian Li, Jing Liu, Yan Huang, Qin Liu, Xiaojun Wei, Hui Xi, Zhengjun Jia, Lingqian Wu, Hua Wang
Software Mentions: 1
Published: over 5 years ago

10.1002/mgg3.1542

Missense variants in <i>CTNNB1</i> can be associated with vitreoretinopathy—Seven new cases of <i>CTNNB1</i>‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
Cited by: 12
Author(s): Linda Rossetti, Mir Reza Bekheirnia, Andrea M. Lewis, Heather C Mefford, Katie Golden‐Grant, Kristina Tarczy-Hornoch, Lauren C. Briere, David A. Sweetser, Melissa Walker, Elijah Kravets, David A. Stevenson, Georgette Bruenner, Jessica Sebastian, Julia Knapo, Jill A. Rosenfeld, Paul C. Marcogliese, Michael F. Wangler
Software Mentions: 1
Published: almost 4 years ago

10.1002/mgg3.685

Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss
Cited by: 1
Author(s): Xinlei Li, Bo Tan, Xiaoqian Wang, Xiaofei Xu, Cuicui Wang, Mingjun Zhong, Qiuling Zhao, Zhongwei Bao, Weihua Peng, Lei Zhang, Jing Cheng, Yu Lu, Peina Wu, Huijun Yuan
Software Mentions: 1
Published: over 5 years ago

10.1002/mgg3.647

Effect of heterozygous pathogenic<i>COL4A3</i>or<i>COL4A4</i>variants on patients with X‐linked Alport syndrome
Cited by: 14
Author(s): Yanqin Zhang, Jie Ding, Hongwen Zhang, Yong Yao, Xin Hu, Suxia Wang, Fang Wang
Software Mentions: 1
Published: over 5 years ago

10.1002/mgg3.654

Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Cited by: 11
Author(s): Camilla Maffezzini, Isabelle Laine, Cristina Dallabona, Paula Clemente, Javier Calvo‐Garrido, Rolf Wibom, K Naess, Michela Barbaro, Anna Falk, Claudia Donnini, Christoph Freyer, Anna Wredenberg, Anna Wedell
Software Mentions: 1
Published: over 5 years ago

10.1002/mgg3.1071

Diagnostic accuracy of midkine for hepatocellular carcinoma: A meta‐analysis
Cited by: 6
Author(s): Yu Zhang, Juan Tang, Xiao Hua Zhou, Shao‐Liang Zhu, Le‐Qun Li
Software Mentions: 1
Published: about 5 years ago

10.1002/mgg3.1139

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita
Cited by: 3
Author(s): Wenbin Zheng, Lu‐Jiao Li, Dongsheng Zhao, Ou Wang, Yan Jiang, Weibo Xia, Xiaoping Xing, Mei Li
Software Mentions: 1
Published: almost 5 years ago

10.1002/mgg3.375

Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families
Cited by: 10
Author(s): Kawther Taleb, Eva Lauridsen, Jette Daugaard‐Jensen, Pekka Nieminen, Sven Kreiborg
Software Mentions: 1
Published: over 6 years ago

10.1002/mgg3.371

Familial aortic disease and a large duplication in chromosome 16p13.1
Cited by: 10
Author(s): Philipp Erhart, Tobias Brandt, Beate K. Straub, Ingrid Haußer, Sabine Hentze, Dittmar Böckler, Caspar Grond‐Ginsbach
Software Mentions: 1
Published: almost 7 years ago

10.1002/mgg3.992

Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly
Cited by: 8
Author(s): Jolyane Meloche, Vanessa Brunet, Paul-André Gagnon, Marie-Ève Lavoie, Jean-Benoît Bouchard, Javad Nadaf, Jacek Majewski, Charles Morin, Catherine Laprise
Software Mentions: 1
Published: about 5 years ago

10.1002/mgg3.332

Role of<i>WNT10A</i>in failure of tooth development in humans and zebrafish
Cited by: 21
Author(s): Qiuping Yuan, Min Zhao, Bhavna Tandon, Lorena Maili, Xiaoming Liu, Anqi Zhang, Evan H. Baugh, T.N. Tran, Renato Silva, Jacqueline Hecht, Eric C. Swindell, Daniel S. Wagner, Ariadne Letra
Software Mentions: 1
Published: about 7 years ago

10.1002/mgg3.266

Structural modeling of a novel<i><scp>SLC</scp>38A8</i>mutation that causes foveal hypoplasia
Cited by: 21
Author(s): Marcus A. Toral, Gabriel Vélez, Katherine Boudreault, Kellie A. Schaefer, Yu Xu, Norman Saffra, Alexander G. Bassuk, Stephen H. Tsang, Vinit B. Mahajan
Software Mentions: 1
Published: almost 8 years ago

10.1002/mgg3.1343

A novel missense variant in <i>MYO3A</i> is associated with autosomal dominant high‐frequency hearing loss in a German family
Cited by: 6
Author(s): Julia Doll, Michaela A.H. Hofrichter, Paulina Bahena, Alfred Heihoff, Dennis Segebarth, Tobias Müller, Marcus Dittrich, Thomas Haaf, Barbara Vona
Software Mentions: 1
Published: over 4 years ago

10.1002/mgg3.904

Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1
Cited by: 3
Author(s): Linlin Chen, Feng Xue, Jia Xu, Jia He, Wen‐Zhen Fu, Zhen‐Lin Zhang, Qinglin Kang
Software Mentions: 1
Published: over 5 years ago

10.1002/mgg3.1052

Clinical and genetic analysis of <i>ATP13A2</i> in hereditary spastic paraplegia expands the phenotype
Cited by: 12
Author(s): Mehrdad Asghari Estiar, Etienne Léveillé, Dan Spiegelman, Nicolas Dupré, Jean‐François Trempe, Guy A. Rouleau
Software Mentions: 1
Published: almost 5 years ago

10.1002/mgg3.539

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
Cited by: 7
Author(s): Dulce Lima Cunha, Omar M. Alakloby, Robert Gruber, Naseebullah Kakar, Jamil Ahmad, Salem Alawbathani, Roswitha Plank, Katja Martina Eckl, Birgit Krabichler, Janine Altmüller, Peter Nürnberg, Johannes Zschocke, Guntram Borck, Matthias Schmuth, Adnan S. Alabdulkareem, Kholood Abdulaziz Alnutaifi, Hans Christian Hennies
Software Mentions: 1
Published: almost 6 years ago

10.1002/1878-0261.12739

Prevalence of<i>PRKDC</i>mutations and association with response to immune checkpoint inhibitors in solid tumors
Cited by: 20
Author(s): Yu Chen, Yang Li, Yanfang Guan, Yingying Huang, Jing Lin, Lizhu Chen, Jin Li, Gang Chen, Leong Kin Pan, Xuefeng Xia, Ning Xu, Lianpeng Chang, Zengqing Guo, Jianji Pan, Xin Yi, Chuanben Chen
Software Mentions: 1
Published: over 4 years ago

10.1002/mds.27133

Motor hyperactivity of the iron-deficient rat - an animal model of restless legs syndrome
Cited by: 22
Author(s): Yuan-Yang Lai, Yingduan Cheng, Kung-Chiao Hsieh, Darian Nguyen, Keng-Tee Chew, Lalini Ramanathan, Jerome M. Siegel
Software Mentions: 1
Published: over 7 years ago

10.1002/vms3.421

Two co‐inherited novel SNPs in the <i>MC4R</i> gene related to live body weight and hormonal assays in Awassi and Arabi sheep breeds of Iraq
Cited by: 9
Author(s): Mohammed Baqur S. Al‐Shuhaib, Mohammed Baqur S. Al‐Shuhaib, Frédéric Leprêtre, Halla Hassan Dawud
Software Mentions: 1
Published: almost 4 years ago

10.12688/wellcomeopenres.13113.2

Perturbation of PALB2 function by the T413S mutation found in small cell lung cancer
Cited by: 4
Author(s): Jean-Yves Bleuyard, Rosie M. Butler, Fumiko Esashi
Software Mentions: 1
Published: almost 7 years ago

10.1186/s12957-021-02194-6

Circulating long noncoding RNAs as potential biomarkers for stomach cancer: a systematic review and meta-analysis
Cited by: 8
Author(s): Fang Cao, Yongwei Hu, Zaichang Chen, Wei Han, Weijie Lu, Jiachao Xu, Hou-zhong Ding, Xiaojun Shen
Software Mentions: 1
Published: over 3 years ago

10.3760/cma.j.issn.0253-2727.2021.07.005

[Analysis of gene mutation spectrum and pharmacokinetics of fibrinogen infusion in 146 cases of congenital fibrinogen disorders].
Cited by: 1
Author(s): Li Huang, D L Zhang, Rongfeng Fu, W Liu, Y F Chen, Fu‐Shan Xue, X F Liu, Teplitskiĭ Bi, Renchi Yang, L Zhang
Software Mentions: 1
Published: over 3 years ago

10.1002/pds.4669

The validity of dementia diagnoses in routinely collected electronic health records in the United Kingdom: A systematic review
Cited by: 30
Author(s): Luke A McGuinness, Charlotte Warren‐Gash, Louisa Moorhouse, Sara L Thomas
Software Mentions: 1
Published: almost 6 years ago

10.14814/phy2.13100

Respiratory gas exchange as a new aid to monitor acidosis in endotoxemic rats: relationship to metabolic fuel substrates and thermometabolic responses
Cited by: 6
Author(s): Alexandre A. Steiner, Elizabeth Alexandra Flatow, Camila F. Brito, Monique T. Fonseca, Evilin Naname Komegae
Software Mentions: 1
Published: almost 8 years ago

10.14814/phy2.12776

Functional and transport analyses of <i>CLCN5</i> genetic changes identified in Dent disease patients
Cited by: 11
Author(s): Xiaojing Tang, Matthew Brown, Andrea G. Cogal, Daniel Gauvin, Peter C. Harris, John C. Lieske, Michael F. Romero, Min Chang
Software Mentions: 1
Published: over 8 years ago

10.1186/s40814-019-0454-1

Rapid Analgesia for Prehospital hip Disruption (RAPID): findings from a randomised feasibility study
Cited by: 11
Author(s): Jenna Jones, Bridie Evans, Greg Fegan, Steven Ford, Katy Guy, S. A. Jones, Leigh Keen, Ashrafunnesa Khanom, Mirella Longo, Ian Pallister, Nigel Rees, Ian Russell, Anne C Seagrove, Alan Watkins, Helen Snooks
Software Mentions: 1
Published: over 5 years ago

10.1111/pbi.13421

QTL‐seq identifies<i>BnaFT.A02</i>and<i>BnaFLC.A02</i>as candidates for variation in vernalization requirement and response in winter oilseed rape (<i>Brassica napus</i>)
Cited by: 30
Author(s): Eleri Tudor, D. Marc Jones, Zhesi He, Ian Bancroft, Martin Trick, Rachel Wells, Judith A. Irwin, Caroline Dean
Software Mentions: 1
Published: over 4 years ago

10.1371/journal.pgen.1003709

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Cited by: 782
Author(s): Slavé Petrovski, Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein
Software Mentions: 1
Published: over 11 years ago

10.1371/journal.pone.0090034

Single Nucleotide Polymorphism (SNP)-Strings: An Alternative Method for Assessing Genetic Associations
Cited by: 10
Author(s): Douglas S. Goodin, Pouya Khankhanian
Software Mentions: 1
Published: over 10 years ago

10.1371/journal.pone.0221339

A systematic review of the diagnostic accuracy of artificial intelligence-based computer programs to analyze chest x-rays for pulmonary tuberculosis
Cited by: 99
Author(s): Miriam Harris, Amy Qi, Luke Jeagal, Nazi Torabi, Dick Menzies, Alexei Korobitsyn, Madhukar Pai, Ruvandhi R. Nathavitharana, Faiz Ahmad Khan
Software Mentions: 1
Published: over 5 years ago

10.1371/journal.pone.0173430

The performance of MR perfusion-weighted imaging for the differentiation of high-grade glioma from primary central nervous system lymphoma: A systematic review and meta-analysis
Cited by: 31
Author(s): Weilin Xu, Qun Wang, Anwen Shao, Bainan Xu, Jianmin Zhang
Software Mentions: 1
Published: over 7 years ago

10.1371/journal.pone.0156670

Receiver-Based Ad Hoc On Demand Multipath Routing Protocol for Mobile Ad Hoc Networks
Cited by: 5
Author(s): Abdulaziz Al-Nahari, Mohd Murtadha Mohamad
Software Mentions: 1
Published: over 8 years ago

10.1371/journal.pone.0133522

Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family
Cited by: 26
Author(s): Juanjuan Gao, Qi Wang, Chen Dong, Siqi Chen, Yu Qi, Yuhe Liu
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0103204

Identification of Novel GRM1 Mutations and Single Nucleotide Polymorphisms in Prostate Cancer Cell Lines and Tissues
Cited by: 13
Author(s): Shafat Ali, Mojgan Shourideh, Shahriar Koochekpour
Software Mentions: 1
Published: over 10 years ago

10.1371/journal.pone.0209885

Influence of vertical wind shear on wind- and rainfall areas of tropical cyclones making landfall over South Korea
Cited by: 15
Author(s): Dasol Kim, Chin Siong Ho, Doo‐Sun R. Park, Jinwon Kim
Software Mentions: 1
Published: almost 6 years ago

10.1371/journal.pone.0127782

Acoustic Radiation Force Impulse Elastography for the Non-Invasive Evaluation of Hepatic Fibrosis in Non-Alcoholic Fatty Liver Disease Patients: A Systematic Review &amp; Meta-Analysis
Cited by: 84
Author(s): Haixia Liu, Jing Fu, Ruixia Hong, Li Liu, Fang Li
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0157418

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24
Cited by: 9
Author(s): Bryan Lin, Daniel Le, Yabin Chen, Qiwei Wang, Dang Huu Chung, Ricardo F. Frausto, Christopher R. Croasdale, Richard W. Yee, Fielding Hejtmancik, Anthony J. Aldave
Software Mentions: 1
Published: over 8 years ago

10.1371/journal.pone.0130202

Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han
Cited by: 22
Author(s): Wenqing Ma, Ya Li, Man Wang, Haixia Li, Tiefen Su, Yan Li, Shixuan Wang
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0185514

Gene selection tool (GST): A R-based tool for genetic disorders based on the sliding-window proportion test using whole-exome sequencing data
Cited by: 0
Author(s): Sugi Lee, Minah Jung, Jaeeun Jung, Kunhyang Park, Jea Woon Ryu, Jeongkil Kim, Dae Soo Kim
Software Mentions: 1
Published: about 7 years ago

10.1371/journal.pone.0050585

Non-Synonymous Polymorphisms in the FCN1 Gene Determine Ligand-Binding Ability and Serum Levels of M-Ficolin
Cited by: 24
Author(s): Christian Gytz Ammitzbøll, Troels R. Kjær, Rudi Steffensen, Kristian Stengaard‐Pedersen, Hans Jørgen Nielsen, Steffen Thiel, Martin Bøgsted, Jens Christian Jensenius
Software Mentions: 1
Published: about 12 years ago

10.1371/journal.pone.0211450

Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension
Cited by: 1
Author(s): Ayako Chida‐Nagai, Masaki Shintani, Hiroki Sato, Tomohiro Nakayama, Masaki Nii, Hiroyuki Akagawa, Toru Furukawa, Radgonde Amer, Yoshiyuki Furutani, Kei Inai, Shigeaki Nonoyama, Toshio Nakanishi
Software Mentions: 1
Published: almost 6 years ago

10.1371/journal.pone.0218277

Strong correlation of total phenotypic resistance of samples from household environments and the prevalence of class 1 integrons suggests for the use of the relative prevalence of intI1 as a screening tool for multi-resistance
Cited by: 14
Author(s): Ralf Lucassen, Laura Rehberg, M. Heyden, Dirk P. Bockmühl
Software Mentions: 1
Published: over 5 years ago

10.1371/journal.pone.0073638

Prevalence of PALB2 Mutations in Breast Cancer Patients in Multi-Ethnic Asian Population in Malaysia and Singapore
Cited by: 26
Author(s): Sze Yee Phuah, Sheau Yee Lee, Peter Choon Eng Kang, In Nee Kang, Sook‐Yee Yoon, Meow‐Keong Thong, Mikael Hartman, Jen-Hwei Sng, Cheng Har Yip, Nur Aishah Mohd Taib, Soo‐Hwang Teo
Software Mentions: 1
Published: over 11 years ago

10.1371/journal.pone.0238697

Molecular basis for a new bovine model of Niemann-Pick type C disease
Cited by: 5
Author(s): Shernae A. Woolley, Emily R. Tsimnadis, Cor Lenghaus, P. J. Healy, Kath Walker, Anthony Morton, Mehar S. Khatkar, Annette Elliott, Ecem Kaya, Clarisse Hoerner, David A. Priestman, Dawn Shepherd, Frances M. Platt, Benjamin T. Porebski, Cali E. Willet, Brendon A. O’Rourke, Imke Tammen
Software Mentions: 1
Published: about 4 years ago

10.1371/journal.pone.0231115

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS
Cited by: 2
Author(s): Feng Xue, Tang Wei, Junhui Sun, Yuqin Luo, Yanyan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye
Software Mentions: 1
Published: over 4 years ago

10.1371/journal.pone.0028936

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
Cited by: 255
Author(s): Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassidy, Christopher Fiorentini, Kory Heiken, Johnny J. Lawrence, Molly H. Mahoney, Christopher J. Miller, Devika Nair, Kristin A. Politi, Kimberly N. Worcester, Roni Setton, Rosa DiPiazza, Eric A. Sherman, James T. Eastman, Christopher S. Francklyn, Susan M. Robey-Bond, Nicholas L. Rider, Stacey Gabriel, D. Holmes Morton, Kevin A. Strauss
Software Mentions: 1
Published: almost 13 years ago

10.1371/journal.pone.0180939

Everolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study
Cited by: 118
Author(s): John J. Bissler, J. Chris Kingswood, Elżbieta Radzikowska, Bernard A. Zonnenberg, Elena Belousova, Michael Frost, Matthias Sauter, Susanne Brakemeier, Petrus J. de Vries, Noah Berkowitz, Maurizio Voi, Séverine Peyrard, Klemens Budde
Software Mentions: 1
Published: over 7 years ago

10.1371/journal.pone.0122068

Identification of Genetic Loci Affecting the Severity of Symptoms of Hirschsprung Disease in Rats Carrying Ednrbsl Mutations by Quantitative Trait Locus Analysis
Cited by: 2
Author(s): Jieping Huang, Ruihua Dang, Daisuke Torigoe, Chuzhao Lei, Xianyong Lan, Hong Chen, Nobuya Sasaki, Jinxi Wang, Takashi Agui
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0177222

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents
Cited by: 4
Author(s): Daniela Staníková, Marek Bužga, Patrik Krumpolec, Martina Škopková, Martina Sůrová, Barbara Ukropcová, Ľubica Tichá, Miroslava Petrášová, Dominika Gabcova, M Hučková, Lucie Piskorova, Jan Boženský, Marián Mokáň, Jozef Ukropec, Ivona Závacká, I Klimeš, Juraj Staník, Daniela Gašperíková
Software Mentions: 1
Published: over 7 years ago

10.1371/journal.pone.0172427

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma
Cited by: 8
Author(s): Tiger Zhou, Emmanuelle Souzeau, Shilpi Sharma, John Landers, Richard A. Mills, Ivan Goldberg, Paul R. Healey, Stuart L. Graham, Alex W. Hewitt, David A. Mackey, Anna Galanopoulos, Robert J. Casson, Jonathan B Ruddle, Jonathan Ellis, Paul Leo, Matthew A. Brown, Stuart MacGregor, David J. Lynn, Kathryn P. Burdon, Jamie E Craig
Software Mentions: 1
Published: over 7 years ago

10.1371/journal.pone.0018636

Data Integration Workflow for Search of Disease Driving Genes and Genetic Variants
Cited by: 4
Author(s): Sirkku Karinen, Tuomas Heikkinen, Heli Nevanlinna, Sampsa Hautaniemi
Software Mentions: 1
Published: over 13 years ago

10.1371/journal.pone.0123274

Medically Unexplained and Explained Physical Symptoms in the General Population: Association with Prevalent and Incident Mental Disorders
Cited by: 43
Author(s): Jonna van Eck van der Sluijs, Margreet ten Have, C.A.Th. Rijnders, Harm van Marwijk, Ron de Graaf, Christina M. van der Feltz-Cornelis
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pone.0087870

Same Day Identification and Full Panel Antimicrobial Susceptibility Testing of Bacteria from Positive Blood Culture Bottles Made Possible by a Combined Lysis-Filtration Method with MALDI-TOF VITEK Mass Spectrometry and the VITEK2 System
Cited by: 111
Author(s): Alexandra Machen, Tim Drake, Yun F Wayne Wang
Software Mentions: 1
Published: almost 11 years ago

10.3390/cancers13164158

Can Ultrasound Elastography Discriminate between Rectal Adenoma and Cancer? A Systematic Review
Cited by: 6
Author(s): Martina Kastrup Loft, Malene Roland Vils Pedersen, Hans B Rahr, Søren Rafael Rafaelsen
Software Mentions: 1
Published: over 3 years ago

10.3390/cancers13143536

How May Ramucirumab Help Improve Treatment Outcome for Patients with Gastrointestinal Cancers?
Cited by: 4
Author(s): Ming-Huang Chen, Sheng–Nan Lu, Chien‐Hung Chen, Peng-Chan Lin, Jeng‐Kai Jiang, Yulia D’yachkova, Mariusz Lukanowski, Ruochuan Cheng, Li-Tzong Chen
Software Mentions: 1
Published: over 3 years ago