The Human Gene Mutation Database: 2008 update

Cited by (873)

Items 401–500 of 873

1. Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients
   Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana Louise Motta, Renan Paulo Martin, Lauro Thiago Turaça, Henrique Ferrer, Caio Perez Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana Gilbert Pessoa et al. · 2020 · Orphanet Journal of Rare Diseases
2. A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs.
   Orly Goldstein, Julie Ann Jordan, Geoffrey K. Aguirre, Gregory M. Acland · 2013 · Europe PMC (PubMed Central)
3. Metabolic Syndrome Components in Murine Models
   Heather A. Lawson, James M. Cheverud · 2010 · Endocrine Metabolic & Immune Disorders - Drug Targets
4. Modulation of the Oligomerization of Myelin Proteolipid Protein by Transmembrane Helix Interaction Motifs
   Derek P. Ng, Charles M. Deber · 2010 · Biochemistry
5. Genome and Exome Sequencing in the Clinic: Unbiased Genomic Approaches with a High Diagnostic Yield
   Marcel R. Nelen, Joris Andre Veltman · 2012 · Pharmacogenomics
6. Sequence shortening in the rodent ancestor
   Steven Laurie, Macarena Toll‐Riera, Núria Radó-Trilla, M. Mar Albà · 2011 · Genome Research
7. The interplay between evolution, regulation and tissue specificity in the Human Hereditary Diseasome
   Shivashankar Hiriyur Nagaraj, Aaron B. Ingham, Antônio Reverter · 2010 · BMC Genomics
8. Variable efficiency of nonsense-mediated mRNA decay across human tissues, tumors and individuals
   Guillermo Palou-Márquez, Fran Supek · 2025 · Genome biology
9. A Dual Model for Prioritizing Cancer Mutations in the Non-coding Genome Based on Germline and Somatic Events
   Jia Li, Marie-Anne Poursat, Damien Drubay, Arnaud Motz, Zohra Saci, Antonin Morillon, Stefan Michiels, Daniel Gautheret · 2015 · PLoS Computational Biology
10. Secondary findings in 622 Turkish clinical exome sequencing data
    Esra Arslan Ateş, Ayberk Türkyılmaz, Özlem Yıldırım, Ceren Alavanda, Hamza Polat, Şenol Demir, Alper Han Çebi, Bilgen Bilge Geçkinli, Ahmet İlter Güney, Pınar Ata et al. · 2021 · Journal of Human Genetics
11. Biomarkers: The Future
    Steven P. LaRosa, Steven M. Opal · 2011 · Critical Care Clinics
12. Mining the coding and non-coding genome for cancer drivers
    Jia Li, Damien Drubay, Stefan Michiels, Daniel Gautheret · 2015 · Cancer Letters
13. Yeast Mitochondrial Protein–Protein Interactions Reveal Diverse Complexes and Disease-Relevant Functional Relationships
    Ke Jin, Gabriel A. Musso, James Vlasblom, Matthew Jessulat, Viktor Deineko, Jacopo Negroni, Roberto Mosca, Ramy Habashy Malty, Diem‐Hang Nguyen‐Tran, Hiroyuki Aoki et al. · 2014 · Journal of Proteome Research
14. Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes
    Deepti Gupta, Sunita Bijarnia‐Mahay, Sudha Kohli, Renu Saxena, Ratna Dua Puri, Yosuke Shigematsu, Seiji Yamaguchi, Osamu Sakamoto, Neerja Gupta, Madhulika Kabra et al. · 2016 · Genetic Testing and Molecular Biomarkers
15. Bioinformatics identification of splice site signals and prediction of mutation effects
    François-Olivier Desmet, Dalil Hamroun, Gwenaëlle Collod‐Béroud, Mireille Claustres, Christophe Béroud · 2010 · HAL
16. Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease
    Fuxiao Xin, Steven Myers, Yong Fuga Li, D.N. Cooper, Sean David Mooney, Predrag Radivojac A · 2010 · Bioinformatics
17. Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome
    Susanna Lualdi, Barbara Tappino, Marco Di Duca, Andrea Dardis, Christopher J. Anderson, Roberto Biassoni, Peter Thompson, Fabio Corsolini, Maja Di Rocco, Bruno Bembi et al. · 2010 · Human Mutation
18. Identification of intrinsically disordered regions in PTEN and delineation of its function via a network approach
    Malaney, Prerna, Uversky, Vladimir N., Davé, Vrushank · 2015 · Methods
19. NovelLIPAmutations in Mexican siblings with lysosomal acid lipase deficiency
    Yuritzi Santillán-Hernández, Enory Almanza-Miranda, Winnie W. Xin, Kendrick A. Goss, Aurea Vera-Loaiza, Ma Teresa Gorraez-de la Mora, Raul Eduardo Piña-Aguilar · 2015 · World Journal of Gastroenterology
20. VIPPID: a gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases
    Mingyan Fang, Zheng Su, Hassan Abolhassani, Yuval Itan, Xin Jin, Lennart L G Hammarström · 2022 · Briefings in Bioinformatics
21. Next generation sequencing and rare genetic variants: From human population studies to medical genetics
    Giuseppe Matullo, Cornelia Di Gaetano, Simonetta Guarrera · 2013 · Environmental and Molecular Mutagenesis
22. A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
    Irene Johnsrud, Mari Ann Kulseth, Olaug Kristin Rødningen, Linn Landrø, Per Helsing, Erik Waage Nielsen, Ketil Heimdal · 2015 · PLoS ONE
23. An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene
    David S. Millar, Carolyn J. Tysoe, L. Lazarou, Daniela T. Pilz, Shehla N. Mohammed, Katharine Anderson, Nadia A Chuzhanova, D.N. Cooper, Rachel Butler · 2010 · Human Genomics
24. Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network
    David R. Crosslin, Peggy D. Robertson, David Carrell, ALLAN S. GORDON, David S. Hanna, Amber Burt, Stephanie Malia Fullerton, Aaron Scrol, James D. Ralston, Kathleen A. Leppig et al. · 2015 · Genome Medicine
25. Novel ATP7A gene mutation in a patient with Menkes disease
    Gabriela Caicedo‐Herrera, Estephanía Candelo, Juan Felipe Pinilla, Andrés Vidal, Santiago Cruz, Harry Pachajoa · 2018 · The Application of Clinical Genetics
26. A Proposed Clinical Decision Support Architecture Capable of Supporting Whole Genome Sequence Information
    Brandon M. Welch, S. Loya, K. Eilbeck, Kensaku Kawamoto · 2014 · Journal of Personalized Medicine
27. A comprehensive in silico investigation into the nsSNPs of Drd2 gene predicts significant functional consequences in dopamine signaling and pharmacotherapy
    Samia Sultana Lira, Ishtiaque Ahammad · 2021 · Scientific Reports
28. Exome Sequencing of Only Seven Qataris Identifies Potentially Deleterious Variants in the Qatari Population
    Juan L. Rodríguez-Flores, Jennifer A. Fuller, Neil R. Hackett, Jacqueline Salit, Joel A. Malek, Eman Al‐Dous, Lotfi Chouchane, Mahmoud Ali Zirie, Amin Jayoussi, Mai Mahmoud et al. · 2012 · PLoS ONE
29. Quantitative prediction of the effect of genetic variation using hidden Markov models
    Mingming Liu, Layne T. Watson, Liqing Zhang · 2014 · BMC Bioinformatics
30. Single‐Nucleotide Polymorphisms Interact to Affect ADH7 Transcription
    Sowmya Jairam, Howard J. Edenberg · 2014 · Alcoholism Clinical and Experimental Research
31. Foxf2: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene
    Richard McKeone, Helena Vieira, Kevin Gregory-Evans, Cheryl Y. Gregory, Paul Denny · 2011 · PLoS ONE
32. Identification of Four NovelPCDH19Mutations and Prediction of Their Functional Impact
    Emanuela Leonardi, Stefano Sartori, Marilena Vecchi, Elisa Bettella, Roberta Polli, Luca De Palma, Clementina Boniver, Alessandra Murgia · 2014 · Annals of Human Genetics
33. A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism
    Xiao Zheng, Shao-Gang Ma, Ya-Li Qiu, Man-Li Guo, Xiao-Juan Shao · 2016 · Journal of Clinical Research in Pediatric Endocrinology
34. Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X
    Katarzyna Gawron · 2016 · Cell Stress and Chaperones
35. Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
    Luisa B Bay, Cristina Cañero Velasco, Mirta E. Ciocca, Andrea Cotti, Miriam Liliana Cuarterolo, Alejandro Fainboim, E Fassio, Marcela Galoppo, Federico Piñero, Paula Adriana Rozenfeld · 2017 · Archivos Argentinos de Pediatria
36. Retinoblastoma genetics screening and clinical management
    Himika Gupta, Sivasankar Malaichamy, Ashwin C. Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan, Vishnu Suresh Babu, Anuprita Ghosh, Arkasubhra Ghosh, Sam Santhosh, Somasekar Seshagiri et al. · 2021 · BMC Medical Genomics
37. Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa.
    Richard McKeone, Matthew E. Wikström, Christina Kiel, P. Elizabeth Rakoczy · 2014 · Europe PMC (PubMed Central)
38. Multiple trichoepitheliomas – a novel mutation in the CYLD gene
    C. Amaro, I Freitas, Paulo Lamarão, Ana Afonso, Marzena Skrzypczak-Zielińska, Wolfram Heinritz · 2009 · Journal of the European Academy of Dermatology and Venereology
39. The genetics and neuropathology of neurodegenerative disorders: perspectives and implications for research and clinical practice
    Vivianna M. Van Deerlin · 2012 · Acta Neuropathologica
40. An Integrated Computational Framework to Assess the Mutational Landscape of α‐L‐Iduronidase IDUA Gene
    Himani Tanwar, C. George Priya Doss · 2017 · Journal of Cellular Biochemistry
41. regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions
    Mingxiang Teng, Shoji Ichikawa, Leah R. Padgett, Yadong Wang, Matthew E. Mort, D.N. Cooper, Daniel L. Koller, Tatiana Foroud, Howard J. Edenberg, Michael J. Econs et al. · 2012 · Bioinformatics
42. Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1
    Pavla Kořalková, Renata Mojzíková, Brigitte A. van Oirschot, Christine A. Macartney, Pavel Timr, Joan Lluís Vives i Corrons, Zuzana Laluhova Striezencova, Kateřina Lejhancová, Vladimír Divoký, Richard van Wijk · 2016 · Blood Cells Molecules and Diseases
43. A sequence-based method to predict the impact of regulatory variants using random forest
    Qiao Liu, Mingxin Gan, Rui Jiang · 2017 · BMC Systems Biology
44. Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
    Jinu Han, John Hoon Rim, In Sik Hwang, Jieun Kim, Saeam Shin, Seung‐Tae Lee, Jong Rak Choi · 2017 · PubMed Central
45. Application of BERT to Enable Gene Classification Based on Clinical Evidence
    Yuhan Su, Hongxin Xiang, Haotian Xie, Yong Yu, Shiyan Dong, Zhaogang Yang, Na Zhao · 2020 · BioMed Research International
46. SLC25A4andC10ORF2Mutations in Autosomal Dominant Progressive External Ophthalmoplegia
    Kyung‐Pil Park, Hyang-Sook Kim, Eun‐Sook Kim, Young-Eun Park, Chang‐Hoon Lee, Dae‐Seong Kim · 2011 · Journal of Clinical Neurology
47. Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes
    Dobril K. Ivanov, Stephen E. Hamby, Peter D. Stenson, Andrew D. Phillips, Hildegard Kehrer-Sawatzki, D.N. Cooper, Nadia A Chuzhanova · 2011 · Human Mutation
48. Reconfiguring phosphorylation signaling by genetic polymorphisms affects cancer susceptibility
    Yongbo Wang, Han Cheng, Zhicheng Pan, Jian Min Ren, Zexian Liu, Yu Xue · 2015 · Journal of Molecular Cell Biology
49. Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys–Dietz syndrome or multiple self-healing squamous epithelioma
    Takayuki Fujiwara, Norifumi Takeda, Hironori Hara, Hiroyuki Morita, Jun Kishihara, Ryo Inuzuka, Hiroki Yagi, Sonoko Maemura, Haruhiro Toko, Mutsuo Harada et al. · 2018 · European Journal of Human Genetics
50. A scalable random walk with restart on heterogeneous networks with Apache Spark for ranking disease-related genes through type-II fuzzy data fusion
    Mehdi Joodaki, Nasser Ghadiri, Zeinab Maleki, Maryam Lotfi Shahreza · 2021 · Journal of Biomedical Informatics
51. A Translational View of the Genetics of Lipodystrophy and Ectopic Fat Deposition
    Matthew Bruce Lanktree, Christopher T. Johansen, TISHA R. JOY, Robert Alexander Hegele · 2010 · Progress in molecular biology and translational science
52. Mutations and Binding Sites of Human Transcription Factors
    Frederick Kamanu, Yulia A. Medvedeva, Ulf Schaefer, Boris R. Janković, John A. C. Archer, Vladimir B. Bajić · 2012 · Frontiers in Genetics
53. Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome
    Nur Farrah Dila Ismail, Nik Mohd Ariff Nik Abdul Malik, Jafar Hessam Mohseni, Abdul Qawee Rani, Fatemeh Hayati, Abdul Razak Salmi, Mohd Yusof Narazah, Z.A.M.H. Zabidi-Hussin, Abdul Rashid Silawati, Wee Teik Keng et al. · 2014 · Japanese Journal of Clinical Oncology
54. Combined Targeted Proteomics and Oxylipin Metabolomics for Monitoring of the COX‐2 Pathway
    Nicole Marie Hartung, Annika Irmgard Ostermann, Stephan Immenschuh, Nils Helge Schebb · 2020 · PROTEOMICS
55. Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis
    Khyber Shinwari, Guojun Liu, Дерябина Светлана Степановна, Mikhail A. Bolkov, Ирина Александровна Тузанкина, В. А. Черешнев · 2021 · The Scientific World JOURNAL
56. The Controversial p.Arg127His Mutation in GJB2 : Report on Three Portuguese Hearing Loss Family Cases
    Tiago Daniel Matos, Helena Simões-Teixeira, Helena Caria, Helena Rosa, Assunção O’Neill, Graça Fialho · 2009 · Genetic Testing and Molecular Biomarkers
57. Structural Principles Analysis of Host-Pathogen Protein-Protein Interactions: A Structural Bioinformatics Survey
    Huaming Chen, William W. Guo, Jun Shen, Lei Wang, Jiangning Song · 2018 · IEEE Access
58. Many pitfalls in diagnosis of acute intermittent porphyria: a case report
    Neluwa-Liyanage R. Indika, T. Kesavan, Hewa Warawitage Dilanthi, K. Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, I. N. Jayasinghe, U. M. T. Piumika, Dinesha Maduri Vidanapathirana, K. D. A. V. Gunarathne, M. Dissanayake et al. · 2018 · BMC Research Notes
59. A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers
    Laura Siri, Andrea Rossi, Federica Lanza, Raffaella Mazzotti, ANNA LUCAS COSTA, Marina Stroppiano, Alberto Gaiero, Amnon Cohen, Roberta Biancheri, Mirella Filocamo · 2014 · Neurogenetics
60. The adenosine deaminase acting on RNA 1 p150 isoform is involved in the pathogenesis of dyschromatosis symmetrica hereditaria
    Junyu Zhang, X.D. Chen, Zhigang Zhang, H.L. Wang, Lan Guo, Y. Liu, Xiuli Zhao, Wei Cao, Qinghe Xing, Fengmin Shao · 2013 · British Journal of Dermatology
61. Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
    Virginie Laugel-Haushalter, Supawich Morkmued, Corinne Stoetzel, Véronique Geoffroy, Jean Muller, Anne Boland, Jean‐François Deleuze, Kirsley Chennen, Waranuch Pitiphat, Hélène Dollfus et al. · 2018 · Frontiers in Physiology
62. Misfolded proinsulin impairs processing of precursor of insulin receptor and insulin signaling in β cells
    Shiqun Liu, Xin Li, Jing Yang, Ruimin Zhu, Zhenqian Fan, Xiaoxi Xu, Wenli Feng, Jingqiu Cui, Jinhong Sun, Ming Rong Liu · 2019 · The FASEB Journal
63. Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors
    Yu-Jen Lin, Arul S. Menon, Zhiqiang Hu, Steven E. Brenner · 2024 · Human Genomics
64. Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy
    Felix von Podewils, Victoria Sylvia Katrin Kowoll, Winnie Schroeder, Julia Geithner, Zhong Irene Wang, Bernadette Gaida, Paula Bombach, Christof Kessler, Ute Felbor, Uwe Runge · 2015 · Epilepsy & Behavior
65. Exploring mitochondrial system properties of neurodegenerative diseases through interactome mapping
    James Vlasblom, Ke Jin, Sandy Kassir, Mohan Babu · 2013 · Journal of Proteomics
66. Antisense Oligonucleotide Induction of Progerin in Human Myogenic Cells
    Yue‐Bei Luo, Chalermchai Mitrpant, Abbie M. Adams, Russell D. Johnsen, Sue Fletcher, Frank Louis Mastaglia, Steve Donald Wilton · 2014 · PLoS ONE
67. Molecular mechanistic associations of human diseases
    Philip Stegmaier, Mathias Krull, Nico Voss, Alexander E Kel, Edgar Wingender · 2010 · BMC Systems Biology
68. Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations
    Guojie Zhang, Pei Zhang, Michael Krawczak, Edward V. Ball, Matthew E. Mort, Hildegard Kehrer‐Sawatzki, D.N. Cooper · 2010 · Human Mutation
69. New age-related hearing loss candidate genes in humans: an ongoing challenge
    Mariateresa Di Stazio, Anna Morgan, Marco Brumat, Sissy Bassani, Daniele Dell’Orco, Valerio Marino, Paolo Garagnani, Cristina Giuliani, Paolo Gasparini, Giorgia Girotto · 2020 · Gene
70. Reducing False-Positive Incidental Findings with Ensemble Genotyping and Logistic Regression Based Variant Filtering Methods
    Kyu‐Baek Hwang, In‐Hee Lee, Jin‐Ho Park, Tina M. Hambuch, Yongjoon Choe, Minhyeok Kim, Kyungjoon Lee, Taemin Song, Matthew B. Neu, Neha Gupta et al. · 2014 · Human Mutation
71. Computational Methods to Work as First-Pass Filter in Deleterious SNP Analysis of Alkaptonuria
    R. Magesh, C. George Priya Doss · 2012 · The Scientific World JOURNAL
72. The pattern of DNA cleavage intensity around indels
    Wei Chen, Liqing Zhang · 2015 · Scientific Reports
73. Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex
    Monika Ołdak, Weronika Szczecińska, Dorota Przybylska, Radosław Maksym, Marta Podgórska, Katarzyna Woźniak, Rafał Płoski, Cezary Kowaléwski · 2010 · Journal of Dermatological Science
74. Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy
    Mireia Alcalde, Óscar Campuzano, Georgia Sarquella‐Brugada, Elena Arbelo, Catarina Allegue, Sara Partemi, Anna Iglesias, Antonio Oliva, Josép Brugada, Ramón Brugada · 2014 · Clinical Research in Cardiology
75. Multivariate Methods for Genetic Variants Selection and Risk Prediction in Cardiovascular Diseases
    Alberto L. Malovini, Riccardo Bellazzi, Carlo Napolitano, Guia Guffanti · 2016 · Frontiers in Cardiovascular Medicine
76. A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics
    Patrick R. Blackburn, Michael T. Zimmermann, Jennifer M. Gass, Kimberly G. Harris, Margot A. Cousin, Nicole J. Boczek, Owen A. Ross, Eric W. Klee, Paul W. Brazis, Jay A. van Gerpen et al. · 2016 · BMC Medical Genetics
77. Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.
    Xiaoyan Huang, Hong Zhuang, Jihong Wu, Jiankang Li, Fangyuan Hu, Yu Zheng, Laurent C. A. M. Tellier, Sheng-Hai Zhang, Fengjuan Gao, Jian‐Guo Zhang et al. · 2017 · PubMed Central
78. Rare loss of function variants in candidate genes and risk of colorectal cancer
    NHLBI GO Exome Sequencing Project, Elisabeth A. Rosenthal, Brian H. Shirts, Laura M. Amendola, Martha J. Horike-Pyne, Peggy D. Robertson, Fuki Marie Hisama, Robin L. Bennett, Michael O. Dorschner, Deborah A. Nickerson et al. · 2018 · Human Genetics
79. GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
    Maria Luce Genovesi, Daniele Guadagnolo, Enrica Marchionni, Agnese Giovannetti, Alice Traversa, Noemi Panzironi, Silvia Bernardo, Pietro Palumbo, Francesco Petrizzelli, Massimo Carella et al. · 2020 · Bone
80. Whole-Genome Profiles of Malay Colorectal Cancer Patients with Intact MMR Proteins
    W. Juhari, Khairul Bariah Ahmad Amin Noordin, A. Zakaria, W. Rahman, W. Mokhter, M. Hassan, Ahmad Shanwani Mohd Sidek, B. Zilfalil · 2021 · Genes
81. Current and Future Approaches to Classify VUSs in LGMD-Related Genes
    Chengcheng Li, Gabe Haller, Conrad Chris Weihl · 2022 · Genes
82. Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome
    Karlene Tanechia Barrett, Ekaterina A. Rodikova, Debra E. Weese‐Mayer, Casey M. Rand, Mary L. Marazita, Margaret E. Cooper, Elizabeth Berry‐Kravis, N. Torben Bech‐Hansen, Richard J. A. Wilson · 2013 · Acta Paediatrica
83. BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.
    Ainur R. Akilzhanova, Bagdat Nyshanbekkyzy, Zhannur Nurkina, Ivan I. Shtephanov, Абай Каиргожинович Макишев, Tasbolat A. Adylkhanov, Tolebay K. Rakhypbekov, Erlan M. Ramanculov, Момыналиев Куват Темиргалиевич · 2013 · Central Asian Journal of Global Health
84. Pathogenicity prediction of non-synonymous single nucleotide variants in dilated cardiomyopathy
    Sabine C. Mueller, Christina Backes, Jan Haas, Hugo Albert Katus, Benjamin Meder, Eckart U. Meese, Andreas Keller · 2015 · Briefings in Bioinformatics
85. Determination of the Clinical Significance of an Unclassified Variant
    Victor Wei Zhang, Jing Wang · 2011 · Methods in molecular biology
86. Interpreting whole genome and exome sequencing data of individual gastric cancer samples
    Daniela Esser, Niklas Holze, Jochen Haag, Stefan Schreiber, Sandra Krüger, Viktoria Susanne Warneke, Philip C Rosenstiel, Christoph Röcken · 2017 · BMC Genomics
87. Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family
    Li Wang, Ying Hao, Peng Yu, Zhenhua Cao, Jin Zhang, Xin Zhang, Yuanyuan Chen, Hao Zhang, Weihong Gu · 2017 · The Cerebellum
88. Adaptive Landscape of Protein Variation in Human Exomes
    Ravi Patel, Laura Scheinfeldt, Maxwell D. Sanderford, Tamera R. Lanham, Koichiro Tamura, Alexander Platt, Benjamin Scott Glicksberg, Ke Xu, Joel T. Dudley, Sudhir Kumar · 2018 · Molecular Biology and Evolution
89. Prolonged Pursuit by Optokinetic Drum Testing in Asymptomatic Female Carriers of Novel FRMD7 Splice Mutation c.1050 +5 G>A
    Arif O. Khan · 2011 · Archives of Ophthalmology
90. Neutral Theory, Disease Mutations, and Personal Exomes
    Sudhir Kumar, Ravi Patel · 2018 · Molecular Biology and Evolution
91. Novel complex Re-Arrangement of ARG1 commonly shared by unrelated patients with Hyperargininemia
    Jafar Hessam Mohseni, Chia Boon Hock, Che Abdul Razak, Syah Nor Iman Othman, Fatemeh Hayati, Winnie Peitee Ong, Muzhirah Aisha Md Haniffa, Bin Alwi Zilfalil, Rowani Mohd Rawi, Lock Hock Ngu et al. · 2013 · Gene
92. Heterologous Overexpression and Mutagenesis of the Human Bile Salt Export Pump (ABCB11) Using DREAM (Directed REcombination-Assisted Mutagenesis)
    Jan Stindt, Philipp Ellinger, Claudia Stroß, Verena Keitel, Dieter Häussinger, Sander H. J. Smits, Ralf Kubitz, Lutz Schmitt · 2011 · PLoS ONE
93. Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients
    Dana Šafka Brožková, Jan Posadka, Petra Laššuthová, Radim Mazanec, Jana Haberlová, Dana Šišková, Iva Sakmaryová, Jana Neupauerová, Pavel Seeman · 2013 · Molecular Medicine Reports
94. Pharmacogenomics and personalized medicine: lost in translation?
    Jean‐Sébastien Hulot · 2010 · Genome Medicine
95. Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran
    Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorifar · 2019 · Molecular Genetics & Genomic Medicine
96. Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family
    Patrícia Varela, Gianna Mastroianni Kirsztajn, Henrique Ferrer, Carolina Sánchez Aranda, Krissia Wallbach, Gustavo Ferreira da Mata, Luiz A. Moura, S.R. Moreira, Carmen Silvia Curiati Mendes, Marco A. Curiati et al. · 2019 · The Nephron journals/Nephron journals
97. Neurofibromatosis Type 1 Gene Mutation Analysis Using Sequence Capture and High-throughput Sequencing
    Elina Uusitalo, Anna Hammais, Elina K. Palonen, Annika M. Brandt, Ville Makela, Roope A. Kallionpää, Eeva‐Mari Jouhilahti, Minna Pöyhönen, Juhani T. Soini, Juha T.K. Peltonen et al. · 2014 · Acta Dermato Venereologica
98. Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients
    Esra Arslan Ateş, Ayberk Türkyılmaz, Ceren Alavanda, Özlem Yıldırım, Ahmet İlter Güney · 2022 · Medeniyet Medical Journal
99. Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes
    Kelly D. Farwell Hagman, Xiang Li, Hsiao‐Mei Lu, Hong Yan Lu, Joan E. Pellegrino, Ryan Miller, Wenqi Zeng, Elizabeth Chao · 2014 · JIMD Reports
100. Patient-controlled encrypted genomic data: an approach to advance clinical genomics
     Yannis J Trakadis · 2012 · BMC Medical Genomics