The Human Gene Mutation Database: 2008 update

Cited by (873)

Items 101–200 of 873

1. Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies
   Miaoxin Li, Johnny S. H. Kwan, Suying Bao, Wanling Yang, Shu‐Leong Ho, You‐Qiang Song, Pak Chung Sham · 2013 · PLoS Genetics
2. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
   Flannick, Jason, Beer, Nicola L, Bick, Alexander G, Agarwala, Vineeta, Molnes, Janne, Gupta, Namrata, Burtt, Noël P, Florez, Jose C, Meigs, James B, Taylor, Herman et al. · 2013 · Nature Genetics
3. DigSee: disease gene search engine with evidence sentences (version cancer)
   Jeong-Kyun Kim, Seongeun So, Heejin Lee, Jong C. Park, Jung‐Jae Kim, Hyunju Lee · 2013 · Nucleic Acids Research
4. On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease
   D.N. Cooper, Albino Bacolla, Claude Férec, Karen M. Vásquez, Hildegard Kehrer‐Sawatzki, Jian‐Min Chen · 2011 · Human Mutation
5. Comprehensive Approach to Analyzing Rare Genetic Variants
   Thomas J. Hoffmann, Nicholas J. Marini, John S. Witte · 2010 · PLoS ONE
6. Alternative splicing: the pledge, the turn, and the prestige
   Lina Marcela Gallego-Paez, Marie C. Bordone, Ana Carolina Leote, Nuno Saraiva-Agostinho, Mariana Ascensão-Ferreira, Nuno L. Barbosa‐Morais · 2017 · Human Genetics
7. The Qatar genome: a population-specific tool for precision medicine in the Middle East
   Khalid A Fakhro, Michelle R Staudt, Monica Denise Ramstetter, Amal Robay, Joel A Malek, Ramin Badii, Ajayeb Al-Nabet Al-Marri, Charbel Abi Khalil, Alya Al-Shakaki, Omar Chidiac et al. · 2016 · Human Genome Variation
8. Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.
   Chiara Di Resta, Silvia Galbiati, Paola Carrera, Maurizio Ferrari · 2018 · Europe PMC (PubMed Central)
9. From sperm to offspring: Assessing the heritable genetic consequences of paternal smoking and potential public health impacts
   Marc A. Beal, Carole Lyn Yauk, Francesco Marchetti · 2017 · Mutation Research/Reviews in Mutation Research
10. Towards precision medicine: advances in computational approaches for the analysis of human variants
    Peterson, Thomas A., Doughty, Emily, Kann, Maricel G. · 2013 · Journal of Molecular Biology
11. Genic and nongenic contributions to natural variation of quantitative traits in maize
    Xianran Li, Chengsong Zhu, Cheng‐Ting Yeh, Wei Wu, Elizabeth M. Takacs, Katherine Anne Petsch, Feng Tian, Guihua Bai, Edward S. Buckler, Gary J. Muehlbauer et al. · 2012 · Genome Research
12. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
    Jong‐Hee Chae, Valeria Vasta, Anna Cho, Byung Chan Lim, Qing Zhang, So Hee Eun, Si Houn Hahn · 2015 · Journal of Medical Genetics
13. Predicting the effects of frameshifting indels
    Jing Hu, Pauline C. Ng · 2012 · Genome biology
14. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
    Barbara Tappino, Roberta Biancheri, Matthew E. Mort, Stefano Regis, Fabio Corsolini, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi et al. · 2010 · Human Mutation
15. Next generation sequence analysis for mitochondrial disorders
    Valeria Vasta, Sarah Boon Hsi Ng, Emily H. Turner, Jay Shendure, Si Houn Hahn · 2009 · Genome Medicine
16. Insights on variant analysis in silico tools for pathogenicity prediction
    Felipe Antônio de Oliveira Garcia, Edilene Santos de Andrade, Edenir Inêz Palmero · 2022 · Frontiers in Genetics
17. Comparing Phylogeny and the Predicted Pathogenicity of Protein Variations Reveals Equal Purifying Selection across the Global Human mtDNA Diversity
    Luı́sa Pereira, Pedro A. Soares, Predrag Radivojac A, Biao Li, David C. Samuels · 2011 · The American Journal of Human Genetics
18. Protein S levels and the risk of venous thrombosis: results from the MEGA case-control study
    Maria Carolina Pintão, Daniel Dias Ribeiro, Irene D. Bezemer, Andrea Aparecida Garcia, Marieke C H de Visser, Carine J.M. Doggen, Willem M. Lijfering, Pieter H. Reitsma, Frits Richard Rosendaal · 2013 · Blood
19. PON-P: Integrated predictor for pathogenicity of missense variants
    Ayodeji Olatubosun, Jouni Väliaho, Jani Härkönen, Janita Thusberg, Mauno Vihinen · 2012 · Human Mutation
20. Identification of altered cis-regulatory elements in human disease
    Anthony Mathelier, Wenqiang Shi, Wyeth W. Wasserman · 2015 · Trends in Genetics
21. Predicting the functional consequences of non-synonymous DNA sequence variants — evaluation of bioinformatics tools and development of a consensus strategy
    Kimon Frousios, Costas S. Iliopoulos, Thomas Schlitt, Michael A. Simpson · 2013 · Genomics
22. DNA Sequencing
    Frederick E. Dewey, Stephen Pan, Matthew Thomas Wheeler, Stephen R. Quake, Euan Angus Ashley · 2012 · Circulation
23. Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations
    Barbara Vona, Tobias Müller, Indrajit Nanda, Cordula Neuner, Michaela A. H. Hofrichter, Jörg Schröder, Oliver Bartsch, Anne Katrin Läßig, Annerose Keilmann, Sebastian Philipp Schraven et al. · 2014 · Genetics in Medicine
24. Sensitive measurement of single-nucleotide polymorphism-induced changes of RNA conformation: application to disease studies
    Raheleh Salari, Chava Kimchi‐Sarfaty, Michael M. Gottesman, Teresa M. Przytycka · 2012 · Nucleic Acids Research
25. Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria
    Manisha Balwani, Dana O. Doheny, David F. Bishop, Irina A. Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph R. Bloomer, Herbert L. Bonkovsky et al. · 2013 · Molecular Medicine
26. Integrative transcriptome imputation reveals tissue-specific and shared biological mechanisms mediating susceptibility to complex traits
    Wen Zhang, Georgios Voloudakis, Veera Manikandan Rajagopal, Ben Readhead, Joel T. Dudley, Eric E. Schadt, Johan Björkegren, Yungil Kim, John F. Fullard, Gabriel E. Hoffman et al. · 2019 · Nature Communications
27. A new disease-specific machine learning approach for the prediction of cancer-causing missense variants
    Emidio Capriotti, Russ Biagio Altman · 2011 · Genomics
28. Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis
    Redouane Allache, Patrizia De Marco, Elisa Merello, Valeria Capra, Zoha Kibar · 2012 · Birth Defects Research Part A Clinical and Molecular Teratology
29. Mandibular advancement and obstructive sleep apnea syndrome.
    Nelson B. Powell, Christian Guilleminault, Robert Wayne Riley, L Smith · 1983 · PubMed
30. LOSS OF POST-TRANSLATIONAL MODIFICATION SITES IN DISEASE
    Shuyan Li, Lilia M. Iakoucheva, Sean David Mooney, Predrag Radivojac A · 2009 · WORLD SCIENTIFIC eBooks
31. CRISPR-free, programmable RNA pseudouridylation to suppress premature termination codons
    Jinghui Song, Liting Dong, Hanxiao Sun, Nan Luo, Qiang Huang, Kai Li, Xiaowen Shen, Zhe Jiang, Zhicong Lv, Luxin Peng et al. · 2022 · Molecular Cell
32. Whole exome sequencing unravels disease‐causing genes in consanguineous families in Qatar
    Somayyeh Fahiminiya, Mariam Almuriekhi, Zafar Nawaz, Alfredo Staffa, P. Lepage, Raja Hussain Ali, L. Hashim, Jeremy Schwartzentruber, Kitam Abu Khadija, S. Zaineddin et al. · 2013 · Clinical Genetics
33. Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives
    Zishuo Zeng, Yana Bromberg · 2019 · Frontiers in Genetics
34. The SCN1A gene variants and epileptic encephalopathies
    Rashmi Parihar, Subramaniam Ganesh · 2013 · Journal of Human Genetics
35. Bioinformatics and variability in drug response: a protein structural perspective
    Jennifer L. Lahti, Grace W. Tang, Emidio Capriotti, Tianyun Liu, Russ Biagio Altman · 2012 · Journal of The Royal Society Interface
36. Identification and characterization of novel rare mutations in the planar cell polarity genePRICKLE1in human neural tube defects
    Ciprian M. Bosoi, Valeria Capra, Redouane Allache, Vincent Quoc‐Huy Trinh, Patrizia De Marco, Elisa Merello, Pierre Drapeau, Alexander G. Bassuk, Zoha Kibar · 2011 · Human Mutation
37. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
    Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke J. Kranendonk, Gijs W.E. Santen, Isaäc J. Nijman, Derek Butler, Godelieve R.F. Claes, Adalberto Costessi et al. · 2015 · European Journal of Human Genetics
38. Epi4K: Gene discovery in 4,000 genomes
    The Epi4K Consortium · 2012 · Epilepsia
39. Toward an integrated pipeline for protein biomarker development
    Andrei P. Drabovich, Eduardo Martínez‐Morillo, Eleftherios P. Diamandis · 2014 · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics
40. Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease
    Dirk‐Jan Kleinjan, P. Coutinho · 2009 · Briefings in Functional Genomics and Proteomics
41. Hunting human disease genes: lessons from the past, challenges for the future
    Liam R. Brunham, Michael R. Hayden · 2013 · Human Genetics
42. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
    Francesca Bertola, Mirella Filocamo, Giorgio Casati, Matthew E. Mort, Camillo Rosano, Anna Tylki‐Szymańska, Beyhan Tüysüz, Orazio Gabrielli, Serena Grossi, Maurizio Scarpa et al. · 2011 · Human Mutation
43. Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ
    Nicholas Ah Mew, Lauren S. Krivitzky, Robert McCarter, Mark L. Batshaw, Mendel Tuchman · 2012 · The Journal of Pediatrics
44. Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations
    Sudhir Kumar, Joel T. Dudley, Alan Filipski, Li Liu · 2011 · Trends in Genetics
45. The porphyrias: advances in diagnosis and treatment
    Manisha Balwani, Robert J. Desnick · 2012 · Hematology
46. Intrinsic Disorder in PTEN and its Interactome Confers Structural Plasticity and Functional Versatility
    Prerna Malaney, Ravi Ramesh Pathak, Bin Xue, Vladimir Nikolaevich Uversky, Vrushank Davé · 2013 · Scientific Reports
47. Identification of genomic indels and structural variations using split reads
    Zhengdong D. Zhang, Jiang Du, Hugo Y. K. Lam, Alexej S. Abyzov, Alexander Eckehart Urban, Michael P. Snyder, Mark Gerstein · 2011 · BMC Genomics
48. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy
    Karit Reinson, Eve Õiglane‐Shlik, Inga Talvik, Ulvi Vaher, Anne Õunapuu, Margus Ennok, Rita Teek, Sander Pajusalu, Ülle Murumets, Tiiu Tomberg et al. · 2016 · American Journal of Medical Genetics Part A
49. Lost in translation: returning germline genetic results in genome-scale cancer research
    Australian Pancreatic Cancer Genome Initiative, Johns, Amber L., McKay, Skye H., Humphris, Jeremy L., Pinese, Mark, Chantrill, Lorraine A., Mead, R. Scott, Tucker, Katherine, Andrews, Lesley, Goodwin, Annabel et al. · 2017 · Genome Medicine
50. A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes
    Capra, John A., Hubisz, Melissa J., Kostka, Dennis, Pollard, Katherine S., Siepel, Adam · 2013 · PLoS Genetics
51. Interpreting Secondary Cardiac Disease Variants in an Exome Cohort
    David Ng, Jennifer J. Johnston, Jamie K. Teer, Larry N. Singh, Lindsey C. Peller, Jamila S. Wynter, Katie L. Lewis, D.N. Cooper, Peter D. Stenson, James C. Mullikin et al. · 2013 · Circulation Cardiovascular Genetics
52. Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology
    Julio Martín, Asan, Yuting Yi, Trinidad M. Alberola, B. Rodriguez-Iglesias, Jorge Jimenez-Almazán, Qin Li, Huiqian Du, Pilar Alamá, Amparo Ruiz et al. · 2015 · Fertility and Sterility
53. Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS
    Anne‐Katrin Emde, Marcel H. Schulz, David Weese, Ruping Sun, Martin Vingron, Vera M. Kalscheuer, Stefan A. Haas, Knut Reinert · 2012 · Bioinformatics
54. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
    Karen Lucy Stals, Matthew Neil Wakeling, Júlia Baptista, Richard C. Caswell, Andrew Parrish, Julia Rankin, Carolyn J. Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen et al. · 2017 · Prenatal Diagnosis
55. CRAVAT 4: Cancer-Related Analysis of Variants Toolkit
    David L. Masica, Christopher Blair Douville, Collin J. Tokheim, Rohit Bhattacharya, RyangGuk Kim, Kyle Moad, Michaël Ryan, Rachel Karchin · 2017 · Cancer Research
56. Spectrum of RB1 mutations identified in 403 retinoblastoma patients
    Elizabeth A Price, Kelly Price, Kelly Kolkiewicz, Simon Hack, Maddy Ashwin Reddy, John L. Hungerford, Judith E. Kingston, Zerrin Onadim · 2013 · Journal of Medical Genetics
57. First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects
    Constantinos Pángalos, Birgitta Hagnefelt, Κωνσταντίνος Λιλάκος, Christopher P. Konialis · 2016 · PeerJ
58. Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain
    George P. Patrinos, D.N. Cooper, Erik M. van Mulligen, Vassiliki A. Gkantouna, Giannis E. Tzimas, Zuotian Tatum, Erik Schultes, Marco Roos, Barend Mons · 2012 · Human Mutation
59. Construction and analysis of the protein-protein interaction networks for schizophrenia, bipolar disorder, and major depression
    Sheng‐An Lee, Theresa Tsun-Hui Tsao, Ko-Chun Yang, Han Lin, Yu-Lun Kuo, Chien-Hsiang Hsu, Wen‐Kuei Lee, Kuo-Chuan Huang, Cheng‐Yan Kao · 2011 · BMC Bioinformatics
60. Combining literature text mining with microarray data: advances for system biology modeling
    Alberto Faro, Daniela Giordano, Concetto Spampinato · 2011 · Briefings in Bioinformatics
61. The In Silico Drug Discovery Toolbox: Applications in Lead Discovery and Optimization
    Agostino Bruno, Gabriele Costantino, Luca Sartori, Marco Radi · 2019 · Current Medicinal Chemistry
62. Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy
    Asuri Narayan Prasad, Charles Anthony Rupar, Chitra Prasad · 2011 · Brain and Development
63. Personalized medicine: hope or hype?
    Keyan Salari, Hugh C Watkins, Euan Angus Ashley · 2012 · European Heart Journal
64. Aggregate penetrance of genomic variants for actionable disorders in European and African Americans
    Pradeep Natarajan, Nina B. Gold, Alexander G. Bick, Heather Marie McLaughlin, Peter L. Kraft, Heidi L. Rehm, Gina Marie Peloso, James G. Wilson, Adolfo Correa, Jonathan G. Seidman et al. · 2016 · Science Translational Medicine
65. Bioinformatics for personal genome interpretation
    Emidio Capriotti, Nathan L Nehrt, Maricel G. Kann, Yana Bromberg · 2012 · Briefings in Bioinformatics
66. Malignant Effects of Multiple Rare Variants in Sarcomere Genes on the Prognosis of Patients with Hypertrophic Cardiomyopathy
    Jizheng Wang, Yilu Wang, Yubao Zou, Kai Sun, Zhimin Wang, Hu Ding, Jinqing Yuan, Wei Wei, Qing Hou, Hu Wang et al. · 2014 · European Journal of Heart Failure
67. Next‐generation sequencing for mitochondrial diseases: A wide diagnostic spectrum
    Valeria Vasta, J. Lawrence Merritt, Russell P. Saneto, Si Houn Hahn · 2012 · Pediatrics International
68. Mutation inSNAP25as a novel genetic cause of epilepsy and intellectual disability
    Luis O. Rohena, Julie Neidich, Megan Truitt Cho, Kelly D. Farwell Hagman, Sha Tang, Orrin Devinsky, Wendy K. Chung · 2013 · Rare Diseases
69. A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene—A Molecular Dynamic Simulation Approach
    Firoz Abdul Samad, Bandar A. Suliman, Syed Hussain Basha, Thamilarasan Manivasagam, Musthafa Mohamed Essa · 2016 · PLoS ONE
70. DiMeX: A Text Mining System for Mutation-Disease Association Extraction
    A. S. M. Ashique Mahmood, Tsung-Jung Wu, Raja Mazumder, K. Vijay‐Shanker · 2016 · PLoS ONE
71. DIVAN: accurate identification of non-coding disease-specific risk variants using multi-omics profiles
    Li Chen, Peng Jin, Zhaohui Steve Qin · 2016 · Genome biology
72. Next generation sequencing--implications for clinical practice
    Eleanor Raffan, Robert K. Semple · 2011 · British Medical Bulletin
73. Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations
    Štěpánka Průhová, Petra Dušátková, Zdenĕk Šumnı́k, Stanislava Koloušková, Oluf Borbye Pedersen, Torben F. Hansen, Ondřej Cinek, Jan Lebl · 2010 · Pediatric Diabetes
74. Secure genomic testing with size- and position-hiding private substring matching
    Emiliano De Cristofaro, Sky Faber, Gene Tsudik · 2013 · ACM Workshop on Privacy in the Electronic Society (WPES)
75. Whole Genome Sequences of a Male and Female Supercentenarian, Ages Greater than 114 Years
    Paola Sebastiani, Alberto Riva, Monty A Montano, Phillip Pham, Ali Torkamani, Eugene Scherba, Gary Benson, Jacqueline N. Milton, Clinton T. Baldwin, Stacy L. Andersen et al. · 2012 · Frontiers in Genetics
76. Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment
    Jipin Das K, Jodie Ingles, Richard D. Bagnall, Christopher Semsarian · 2018 · Genetics in Medicine
77. U6 RNA biogenesis and disease association
    Seweryn Mroczek, Andrzej Dziembowski · 2013 · Wiley Interdisciplinary Reviews - RNA
78. PaPI: pseudo amino acid composition to score human protein-coding variants
    Ivan Limongelli, Simone Marini, Riccardo Bellazzi · 2015 · BMC Bioinformatics
79. Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis
    Russell J. Butterfield, Tamara J. Stevenson, Lingyan Xing, Tara M. Newcomb, Benjamin Nelson, Wenqi Zeng, Xiang Li, Hsiao‐Mei Lu, Hong Yan Lu, Kelly D. Farwell Hagman et al. · 2014 · Neurology
80. Shades of complexity: New perspectives on the evolution and genetic architecture of human skin
    Quillen, Ellen E., Norton, Heather L., Parra, Esteban J., Lona‐Durazo, Frida, Ang, Khai C., Illiescu, Florin Mircea, Pearson, Laurel N., Shriver, Mark D., Lasisi, Tina, Gokcumen, Omer et al. · 2019 · American Journal of Physical Anthropology
81. Disease-associated variants in different categories of disease located in distinct regulatory elements
    Meng Ma, Ying Ru, Ling-shiang F. Chuang, Nai-Yun Hsu, Lisong Shi, Jörg Hakenberg, Wei‐Yi Cheng, Andrew V. Uzilov, Wei Ding, Benjamin Scott Glicksberg et al. · 2015 · BMC Genomics
82. DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites
    Emanuele Buratti, Martin Chivers, G. Hwang, Igor Vořechovský · 2010 · Nucleic Acids Research
83. Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity
    Jeana T. DaRe, Valeria Vasta, John Penn, Nguyen-Thao B. Tran, Si Houn Hahn · 2013 · BMC Medical Genetics
84. Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis
    Anna Rohlin, Yvonne Engwall, Kaisa Fritzell, K Göransson, Alicia Bergsten, Zakaria Einbeigi, Mef Christina Nilbert, Per Karlsson, Jan A. Björk, Margareta Nordling · 2011 · Oncogene
85. In silico functional profiling of human disease-associated and polymorphic amino acid substitutions
    Matthew E. Mort, Uday S. Evani, Vidhya Gomathi Krishnan, Kishore K. Kamati, Peter H. Baenziger, Angshuman Bagchi, Brandon J. Peters, Rakesh Sathyesh, Biao Li, Yanan Sun et al. · 2010 · Human Mutation
86. Steryl ester synthesis, storage and hydrolysis: A contribution to sterol homeostasis
    Martina Korber, Isabella Klein, Günther Daum · 2017 · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
87. Mutational analysis of TYR gene and its structural consequences in OCA1A
    Balu Kamaraj, Rituraj Purohit · 2012 · Gene
88. Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data
    Charlotte Andreasen, Lena Refsgaard, Jonas Bille Nielsen, Ahmad Sajadieh, Bo Gregers Winkel, Jacob Tfelt‐Hansen, Stig Haunsø, Anders Gaarsdal Holst, Jesper Hastrup Svendsen, MORTEN SALLING OLESEN · 2013 · Canadian Journal of Cardiology
89. Challenges for modeling global gene regulatory networks during development: Insights from Drosophila
    Bartek Wilczyński, Eileen E. M. Furlong · 2009 · Developmental Biology
90. Databases of genomic variation and phenotypes: existing resources and future needs
    Jennifer J. Johnston, Leslie G. Biesecker · 2013 · Human Molecular Genetics
91. Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy
    Paul R. Freund, Yuri V. Sergeev, Ian M. MacDonald · 2016 · Molecular Genetics & Genomic Medicine
92. Determination of the allelic frequency in Smith–Lemli–Opitz syndrome by analysis of massively parallel sequencing data sets
    Jennifer L. Cross, James Iben, Claire L. Simpson, Audrey E. Thurm, Susan E. Swedo, Elaine Tierney, Joan Wilson, Leslie G. Biesecker, Forbes D. Porter, Christopher A. Wassif · 2014 · Clinical Genetics
93. Multi-functional crosslinked Au nanoaggregates for the amplified optical DNA detection
    Jiang Li, Shiping Song, Di Li, Yan Ling Su, Qing Huang, Yun Fu Zhao, Chunhai Fan · 2009 · Biosensors and Bioelectronics
94. Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease
    Gregory B. Potter, Marta B. Santos, Muriel Trask Davisson, David H. Rowitch, Dan L. Marks, Ernesto Roque Bongarzone, Magdalena A. Petryniak · 2013 · Human Molecular Genetics
95. Menkes disease: what a multidisciplinary approach can do
    Asuri Narayan Prasad, Rahul Ojha · 2016 · Journal of Multidisciplinary Healthcare
96. The missing story behind Genome Wide Association Studies: single nucleotide polymorphisms in gene deserts have a story to tell
    William S. Schierding, Wayne S. Cutfield, Justin Martin O'Sullivan · 2014 · Frontiers in Genetics
97. Evolution- and Structure-Based Computational Strategy Reveals the Impact of Deleterious Missense Mutations on MODY 2 (Maturity-Onset Diabetes of the Young, Type 2)
    C. George Priya Doss, Chiranjib Chakraborty, SA Syed Haneef, N. Nagasundaram, Luonan Chen, Hailong Zhu · 2014 · Theranostics
98. High-throughput discovery of rare insertions and deletions in large cohorts
    Francesco Vallania, Todd E. Druley, Enrique Ramos, Jue Wang, Ingrid B. Borecki, Michael A. Province, Robi David Mitra · 2010 · Genome Research
99. Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population
    Koji M. Nishiguchi, Carlo Rivolta · 2012 · PLoS ONE
100. Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions
     Rongying Tang, D. Prosser, D. Love · 2016 · Adv. Bioinformatics