Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y., Choi, Murim, Tatlı, Burak, Yalnızoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakırcıoğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Yılmaz, Sanem, Dinçer, Alp, Johnson, Michele H., Bronen, Richard A., Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçınkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P., State, Matthew W., Günel, Murat·2010·Nature
DOI 10.1038/nature09327

Cited by (499)

Items 101–200 of 499

  1. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
    S. Gulsuner, A. B. Tekinay, Katja Doerschner, H. Boyaci, Kaya Bilguvar, H. Unal, A. Ors, O. Onat, E. Atalar, A. Başak et al. · 2011 · Genome Research
  2. Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)
    Muhammad Naveed, Syeda Khushbakht Kazmi, Mariyam Amin, Zainab Asif, Ushna Islam, Kinza Shahid, Sana Tehreem · 2018 · Genetics Research
  3. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
    Steven E. Boyden, Lane J. Mahoney, Genri Kawahara, Jennifer A. Myers, Satomi Mitsuhashi, Elicia A. Estrella, Anna R. Duncan, Friederike Dey, Elizabeth T. DeChene, Jessica Blasko et al. · 2012 · Neurogenetics
  4. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform
    Byung Chan Lim, Seungbok Lee, Jaeik Shin, Jong‐Il Kim, Hee Young Hwang, Ki Joong Kim, Yong Seung Hwang, Jeong‐Sun Seo, Jong‐Hee Chae · 2011 · Journal of Medical Genetics
  5. Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases
    Gerald Goh, Murim Choi · 2012 · Genomics & Informatics
  6. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
    Ahmet Okay Çağlayan, Sinan Çomu, Jacob F. Baranoski, Yeşim Parman, Hande Kaymakçalan, Gozde Tugce Akgumus, Caner Çağlar, Duygu Dölen, Zeynep Erson-Omay, Akdes Serin Harmancı et al. · 2014 · European Journal of Medical Genetics
  7. Exome sequencing reveals CCDC111 mutation associated with high myopia
    Fuxin Zhao, Jinyu Wu, Anquan Xue, Yanfeng Su, Xiaojing Wang, LU Xian-min, Zhonglou Zhou, Jia Qu, Xiangtian Zhou · 2013 · Human Genetics
  8. Microcephaly-Associated Protein WDR62 Regulates Neurogenesis through JNK1 in the Developing Neocortex
    Dan Xu, Feng Zhang, Yaqing Wang, Yiming Sun, Zhiheng Xu · 2014 · Cell Reports
  9. Time is of the essence: the molecular mechanisms of primary microcephaly
    Thao P. Phan, Andrew Jon Holland · 2021 · Genes & Development
  10. Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
    Katherine R. Smith, Catherine J. Bromhead, Michael S. Hildebrand, Aiden Eliot Shearer, Paul J. Lockhart, Hossein Najmabadi, Richard Jacob Leventer, George McGillivray, David J. Amor, Richard J. Smith et al. · 2011 · Genome biology
  11. Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia
    Evgeny A. Glazov, Andreas Zankl, Marina Donskoi, Tony Kenna, Gethin P. Thomas, Graeme R. Clark, Emma L. Duncan, Matthew Arthur Brown · 2011 · PLoS Genetics
  12. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome
    Simone Sanna‐Cherchi, Katelyn E. Burgess, Shannon N. Nees, Gianluca Caridi, Patricia L. Weng, Monica Dagnino, Monica Bodria, Alba Carrea, Maddalena Allegretta, Hyunjae Ryan Kim et al. · 2011 · Kidney International
  13. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
    Darrell Lee Dinwiddie, Laurie D. Smith, Neil Miller, Andrea M. Atherton, Emily Farrow, Meghan E. Strenk, Sarah Elizabeth Soden, Carol Saunders, Stephen Francis Kingsmore · 2013 · Genomics
  14. Emerging principles of primary cilia dynamics in controlling tissue organization and function
    Jay Gopalakrishnan, Kerstin Feistel, Benjamin M. Friedrich, Anne Grapin‐Botton, Nathalie Jurisch‐Yaksi, Elvira Mass, David U. Mick, Roman‐Ulrich Müller, Helen May‐Simera, Bernhard Schermer et al. · 2023 · The EMBO Journal
  15. WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance and timely mitotic progression.
    Marie A. Bogoyevitch, Yvonne Y.C. Yeap, Zhengdong Qu, Kevin R. W. Ngoei, Yan Y. Yip, Teresa T. Zhao, Julian Ik‐Tsen Heng, Dominic C.H. Ng · 2012 · Journal of Cell Science
  16. A Practical Guide To Filtering and Prioritizing Genetic Variants
    Mahjoubeh Jalali Sefid Dashti, Junaid Gamieldien · 2017 · BioTechniques
  17. Folding brains: from development to disease modeling
    Lucia Del-Valle-Anton, Vı́ctor Borrell · 2021 · Physiological Reviews
  18. Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era
    Monica Malheiros França, Berenice Bilharinho Mendonca · 2019 · Journal of the Endocrine Society
  19. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
    A. Gulhan Ercan‐Sencicek, Samira Jambi, Daniel Franjic, Sayoko Nishimura, Mingfeng Li, Paul El-Fishawy, Thomas M. Morgan, Stephan Sanders, Kaya Bilgüvar, Mohnish Suri et al. · 2014 · European Journal of Human Genetics
  20. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
    Daniel Durán, Xue Qiang Zeng, Sheng Chih Jin, Jungmin Choi, Carol J. Nelson-Williams, Bogdan A. Yatsula, Jonathan Read Gaillard, Charuta Gavankar Furey, Qiongshi Lu, Andrew T. Timberlake et al. · 2018 · Neuron
  21. Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons
    Brian N Harding, Amanda Moccia, Séverine Drunat, Omar Soukarieh, Hélène Tubeuf, Lyn S. Chitty, Alain Verloès, Pierre Gressèns, Vincent El Ghouzzi, Sylvie Joriot et al. · 2016 · The American Journal of Human Genetics
  22. Polymicrogyria Includes Fusion of the Molecular Layer and Decreased Neuronal Populations But Normal Cortical Laminar Organization
    Alexander Russell Judkins, Daniel Martínez, Pâmela C.L. Ferreira, William B. Dobyns, Jeffrey Alan Golden · 2011 · Journal of Neuropathology & Experimental Neurology
  23. Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations
    Ahmet Okay Çağlayan, Jacob F. Baranoski, Fesih Aktar, Wengi Han, Beyhan Tüysüz, Aslan Güzel, Bülent Güçlü, Hande Kaymakçalan, Berrin Aktekin, Gozde Tugce Akgumus et al. · 2014 · Pediatric Neurology
  24. Neurogenesis, neuronal migration, and axon guidance
    Andrea Accogli, Nassima Addour-Boudrahem, Myriam Srour · 2020 · Handbook of clinical neurology
  25. Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development
    Elena Perenthaler, Soheil Yousefi, Eva Niggl, Tahsin Stefan Barakat · 2019 · Frontiers in Cellular Neuroscience
  26. Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression
    Claire Novorol, Janina Burkhardt, Kirstin J. Wood, Anila Iqbal, Cláudio Gouveia Roque, Nicola Coutts, Alexandra D. Almeida, Jie He, Christopher J. Wilkinson, William A. Harris · 2013 · Open Biology
  27. A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families
    Bingshan Li, Wei Chen, Xiaowei Zhan, Fabio Busonero, Serena Sanna, Carlo Sidore, Francesco Cucca, Hyun Min Kang, Gonçalo R. Abecasis · 2012 · PLoS Genetics
  28. Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing
    Magdaléna Harakaľová, Michal Mokrý, Barbara Hrdličková, Ivo Renkens, Karen J. Duran, Henk S. van Roekel, Nico R. Lansu, Mark J. van Roosmalen, Ewart de Bruijn, Isaäc J. Nijman et al. · 2011 · Nature Protocols
  29. Translational bioinformatics: linking knowledge across biological and clinical realms: Figure 1
    Indra Neil Sarkar, Atul Janardhan Butte, Yves A. Lussier, Peter Z Tarczy-Hornoch, Lucila Ohno-machado A · 2011 · Journal of the American Medical Informatics Association
  30. What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH)
    Deborah J. Morris-Rosendahl, Angela M. Kaindl · 2015 · Molecular and Cellular Probes
  31. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations ofWDR73
    Robert N. Jinks, Erik G. Puffenberger, Emma L. Baple, Brian N Harding, Peter B. Crino, Agnes B. Fogo, Olivia K. Wenger, Baozhong Xin, Alanna E. Koehler, Madeleine McGlincy et al. · 2015 · Brain
  32. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
    Muzammil Ahmad Khan, Verena Rupp, Meritxell Orpinell, Muhammad Sajid Hussain, Janine Altmüller, Michel Olivier Steinmetz, Christian Enzinger, Hölger Thiele, Wolfgang Ernst Höhne, Gudrun Nürnberg et al. · 2014 · Human Molecular Genetics
  33. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension
    Sílvia Vilarinho, Sinan Sarı, Güldal Yılmaz, Amy L. Stiegler, Titus J. Boggon, Dhanpat Jain, Gülen Akyol, Buket Dalgıç, Murat Günel, Richard P. Lifton · 2016 · Hepatology
  34. Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing
    Guangqian Xing, Jun Yao, Bin Wu, Tingting Liu, Qinjun Wei, Cheng Liu, Yajie Lu, Zhibin Chen, Heng Zheng, Xiaonan Yang et al. · 2014 · Genetics in Medicine
  35. Personalized medicine: hope or hype?
    Keyan Salari, Hugh C Watkins, Euan Angus Ashley · 2012 · European Heart Journal
  36. An essential role of SVZ progenitors in cortical folding in gyrencephalic mammals
    Tomohisa Toda, Yohei Shinmyo, Tung Anh Dinh Duong, Kosuke Masuda, Hiroshi Kawasaki · 2016 · Scientific Reports
  37. Next generation sequencing--implications for clinical practice
    Eleanor Raffan, Robert K. Semple · 2011 · British Medical Bulletin
  38. Downsizing genomic medicine: Approaching the ethical complexity of whole-genome sequencing by starting small
    Richard R. Sharp · 2011 · Genetics in Medicine
  39. The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules
    Stella‐Amrei Kunde, Luciana Musante, A. Grimme, U. Fischer, E. Müller, Erich E. Wanker, Vera M. Kalscheuer · 2011 · Human Molecular Genetics
  40. Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features
    Beyhan Tüysüz, Kaya Bilgüvar, Naci Koçer, Cengiz Yalçınkaya, Ahmet Okay Çağlayan, Ece Gül, Sezgin Şahin, Sinan Çomu, Murat Günel · 2014 · American Journal of Medical Genetics Part A
  41. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations
    Vishwanath Kumble Bhat, Satish Chandra Girimaji, G Mohan, H.R. Arvinda, Pooja Singhmar, Mahesh R. Duvvari, Arun Kumar · 2011 · Clinical Genetics
  42. MicroRNAs tune cerebral cortical neurogenesis
    M-L Volvert, Florence Rogister, Gustave Moonen, Brigitte Malgrange, Laurent Nguyen · 2012 · Cell Death and Differentiation
  43. Identification of candidate genes in rice for resistance to sheath blight disease by whole genome sequencing
    James Silva, Brian E. Scheffler, Yamid Sanabria, Christian De Guzman, Dominique Clark Galam, Andrew D Farmer, Jimmy E. Woodward, Gregory D. May, James H. Oard · 2011 · Theoretical and Applied Genetics
  44. Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly
    Andrew DiStasio, Ashley M. Driver, Kristen Lipscomb Sund, Milene Donlin, Ranjithmenon Muraleedharan, Shabnam Pooya, Beth M. Kline‐Fath, Kenneth M. Kaufman, Cynthia A. Prows, Elizabeth K. Schorry et al. · 2017 · Human Molecular Genetics
  45. RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
    Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, Canan Doğanlı, Cecilie Keller, Maren Mönnich, André Brás Gonçalves, Srinivasan Sakthivel, Yuan Mang, Ambrin Fatima et al. · 2020 · Nature Communications
  46. The essential role of primary cilia in cerebral cortical development and disorders
    Siling Liu, Mia X Trupiano, Jeremy M. Simon, Jiami Guo, Eva S. Anton · 2021 · Current topics in developmental biology/Current Topics in Developmental Biology
  47. The Microcephaly-Associated Protein Wdr62/CG7337 Is Required to Maintain Centrosome Asymmetry in Drosophila Neuroblasts
    Anjana Ramdas Nair, Priyanka A. Singh, David Salvador-Garcia, David Rodríguez-Crespo, Boris Egger, Clemens Cabernard · 2016 · Cell Reports
  48. New Frontiers in Animal Research of Psychiatric Illness
    Kaffman, Arie, Krystal, John J. · 2012 · Methods in Molecular Biology
  49. Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias
    Mitsuhiro eKato · 2015 · Frontiers in Neuroscience
  50. Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing
    Dajiang J. Liu, Suzanne M. Leal · 2010 · The American Journal of Human Genetics
  51. Exome sequencing greatly expedites the progressive research of Mendelian diseases
    Xuejun Zhang · 2014 · Frontiers of Medicine
  52. Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
    Gholson J. Lyon, Tao Jiang, Richard van Wijk, Wei Wang, Paul Bodily, Jinchuan Xing, Lifeng Tian, Reid J. Robison, Mark Clement, Lin Yang et al. · 2011 · PubMed
  53. CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly
    Sulman Basit, Khalid M. Al-Harbi, Sabri A. M. Alhijji, Alia M. Albalawi, Essa Alharby, Amr El-Dardear, Mohammed I. Samman · 2016 · Human Genetics
  54. Allelic Diversity in Human Developmental Neurogenetics: Insights into Biology and Disease
    Christopher A. Walsh, Elizabeth C. Engle · 2010 · Neuron
  55. Focal Cortical Dysplasia and Epilepsy Surgery
    Sang Kun Lee, Dong Wook Kim · 2013 · Journal of Epilepsy Research
  56. Autosomal Recessive Primary Microcephaly: Not Just a Small Brain
    Sami Zaqout, Angela M. Kaindl · 2022 · Frontiers in Cell and Developmental Biology
  57. Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly
    Gaëlle Friocourt, Pascale Marcorelles, Pascale Saugier-Véber, Marie-Lise Quillé, Stéphane Marret, Annie Laquerrière · 2010 · Acta Neuropathologica
  58. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
    Bianca J. C. van den Bosch, Mike Gerards, Wim J. Sluiter, Alexander P.A. Stegmann, Eveline Jongen, Debby M.E.I. Hellebrekers, Renske Oegema, Ellen Lambrichs, Holger Prokisch, Katharina Danhauser et al. · 2011 · Journal of Medical Genetics
  59. Genetic heterogeneity in Pakistani microcephaly families
    Muhammad Sajid Hussain, Syeda Marriam Bakhtiar, Muhammad Farooq, Iram Anjum, Eva Janzen, Mohammad Reza Toliat, Hans Eiberg, KW Kjaer, Niels Tommerup, Noegel Aa et al. · 2012 · Clinical Genetics
  60. Proximity labeling reveals non-centrosomal microtubule-organizing center components required for microtubule growth and localization
    Ariana D. Sanchez, Tess Caroline Branon, Lauren E. Cote, Alexandros Papagiannakis, Xing Liang, Melissa A. Pickett, Kang Shen, Christine Jacobs, Alice Y. Ting, Jessica L. Feldman · 2021 · Current Biology
  61. Morphological and functional aspects of progenitors perturbed in cortical malformations
    Sara Bizzotto, Fiona Francis · 2015 · Frontiers in Cellular Neuroscience
  62. Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations
    Lvzhen Huang, Yingjie Li, Xuefeng Xie, Jingjing Zhang, Ching‐Yu Cheng, Kenji Yamashiro, Lijia Chen, Xiaoyun Ma, Chui Ming Gemmy Cheung, Yu-Sheng Wang et al. · 2015 · Nature Communications
  63. Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations
    Sílvia Vilarinho, Zeynep Erson-Omay, Akdes Serin Harmancı, Raffaella A. Morotti, Geneive Carrión-Grant, Jacob F. Baranoski, Alex S. Knisely, Udeme D. Ekong, Sukru Emre, Katsuhito Yasuno et al. · 2014 · Journal of Hepatology
  64. Control of Intestinal Cell Fate by Dynamic Mitotic Spindle Repositioning Influences Epithelial Homeostasis and Longevity
    Daniel Jun-Kit Hu, Heinrich Jasper · 2019 · Cell Reports
  65. YTHDF2 destabilizes m6A-modified neural-specific RNAs to restrain differentiation in induced pluripotent stem cells
    Adam M. Heck, Joseph Russo, Jeffrey Wilusz, Erin Osborne Nishimura, Carol J. Wilusz · 2020 · RNA
  66. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells
    Mara Cavallin, Maria Alexandra Rujano, Nathalie Bednarek, Daniel Medina-Cano, A. Gélot, Séverine Drunat, Camille Maillard, Meriem Garfa‐Traoré, Christine Bôle‐Feysot, Patrick Nitschké et al. · 2017 · Brain
  67. Whole‐exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria
    David R. Murdock, Gary Clark, Matthew Neil Bainbridge, Irene Newsham, Yuanqing Wu, Donna Marie Muzny, Sau Wai Cheung, Richard A. Gibbs, Melissa B. Ramocki · 2011 · American Journal of Medical Genetics Part A
  68. Genome annotation for clinical genomic diagnostics: strengths and weaknesses
    Charles A. Steward, Alasdair P. J. Parker, Berge A. Minassian, Sanjay M. Sisodiya, Adam Frankish, Jennifer Harrow · 2017 · Genome Medicine
  69. Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly
    Paraskevi Sgourdou, Ketu Mishra-Gorur, Ichiko Saotome, Octavian Henagariu, Beyhan Tüysüz, Cynthia Resende Campos, Keiko Ishigame, Κρινιώ Γιαννίκου, Jennifer L. Quon, Nenad Šestan et al. · 2017 · Scientific Reports
  70. Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing
    Jinyu Wu, Ping Yu, Xin Jin, Xiu Xu, Jinchen Li, Zhongshan Li, Mingbang Wang, Tao Wang, Xueli Wu, Yi Wei Jiang et al. · 2018 · Journal of genetics and genomics/Journal of Genetics and Genomics
  71. Variants inCUL4Bare Associated with Cerebral Malformations
    Anneke T. Vulto‐van Silfhout, Tadashi Nakagawa, Nadia Bahi‐Buisson, Stefan A. Haas, Hao Hu, Melanie Bienek, Lisenka E.L.M. Vissers, Christian Gilissen, Andreas Tzschach, Andreas Busche et al. · 2014 · Human Mutation
  72. The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development
    Belal Shohayeb, Uda Y. Ho, Yvonne Y.C. Yeap, Robert G. Parton, S. Sean Millard, Zhiheng Xu, Michael Piper, Dominic C.H. Ng · 2019 · Human Molecular Genetics
  73. Structural and Functional Impact of Cancer-Related Missense Somatic Mutations
    Zhen Shi, John Moult · 2011 · Journal of Molecular Biology
  74. In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells
    Hikaru Ito, Hiroki Shiwaku, C Yoshida, Hidenori Homma, H Luo, X Chen, K Fujita, Luciana Musante, U Fischer, Suzanna G.M. Frints et al. · 2014 · Molecular Psychiatry
  75. Association of exome sequences with plasma C-reactive protein levels in >9000 participants
    Ursula M. Schick, Paul Livermore Auer, Joshua C. Bis, Honghuang Lin, Peng Wei, Nathan Pankratz, Leslie A. Lange, Jennifer A. Brody, Nathan O. Stitziel, Daniel Seung Kim et al. · 2014 · Human Molecular Genetics
  76. Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
    Heba Gamal Farag, Sebastian Froehler, Konrad Oexle, Ethiraj Ravindran, Detlev Schindler, Timo Staab, Angela Huebner, Nadine Kraemer, Wei Chen, Angela M. Kaindl · 2013 · Orphanet Journal of Rare Diseases
  77. Human Brain Evolution: Harnessing the Genomics (R)evolution to Link Genes, Cognition, and Behavior
    Geneviève Konopka, Daniel H. Geschwind · 2010 · Neuron
  78. Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects
    Sintia Kolbjer, Daniel Martín Muñoz, Maria Pettersson, Maria G. Dahlin, Britt‐Marie Anderlid · 2021 · European Journal of Paediatric Neurology
  79. Whole-Genome Sequencing in Personalized Therapeutics
    Pablo Cordero, Euan Angus Ashley · 2012 · Clinical Pharmacology & Therapeutics
  80. Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development
    Loïc Broix, Laure Asselin, Carla G. Silva, Ekaterina L. Ivanova, Peggy Tilly, Johan Gilet, Nicolas Lebrun, Hélène Jagline, Giuseppe Muraca, Yoann Saillour et al. · 2017 · Human Molecular Genetics
  81. Cilia in hereditary cerebral anomalies
    Sophie Thomas, Lucile Boutaud, Madeline Louise Reilly, Alexandre Benmerah · 2019 · Biology of the Cell
  82. Alzheimer’s disease: rare variants with large effect sizes
    Del-Aguila, Jorge L, Koboldt, Daniel C, Black, Kathleen, Chasse, Rachel, Norton, Joanne, Wilson, Richard K, Cruchaga, Carlos · 2015 · Current Opinion in Genetics & Development
  83. Opposing roles for JNK and Aurora A in regulating WD40-Repeat Protein 62 association with spindle microtubules
    Nicholas R. Lim, Yvonne Y.C. Yeap, Teresa T. Zhao, Yan Y. Yip, Shu Cheng Wong, Dan Xu, Ching‐Seng Ang, Nicholas A. Williamson, Zhiheng Xu, Marie A. Bogoyevitch et al. · 2014 · Journal of Cell Science
  84. Alzheimer’s Genetics in the GWAS Era: A Continuing Story of ‘Replications and Refutations’
    Lars Bertram · 2011 · Current Neurology and Neuroscience Reports
  85. Functional divergence of the brain-size regulating gene MCPH1during primate evolution and the origin of humans
    Lei Shi, Ming Li, Qiang Lin, Xuebin Qi, Bing Su · 2013 · BMC Biology
  86. Annual Research Review: Impact of advances in genetics in understanding developmental psychopathology
    Anjene Musick Addington, Judith L. Rapoport · 2011 · Journal of Child Psychology and Psychiatry
  87. A Novel c-Jun N-terminal Kinase (JNK) Signaling Complex Involved in Neuronal Migration during Brain Development
    Feng Zhang, Jingwen Yu, Tao Yang, Dan Xu, Zhixia Chi, Yanheng Xia, Zhiheng Xu · 2016 · Journal of Biological Chemistry
  88. Katanin p80, NuMA and cytoplasmic dynein cooperate to control microtubule dynamics
    Mingyue Jin, Oz Pomp, Tomoyasu Shinoda, Shiori Toba, Takayuki Torisawa, Ken’ya Furuta, Kazuhiro Oiwa, Takuo Yasunaga, Daiju Kitagawa, Shigeru Matsumura et al. · 2017 · Scientific Reports
  89. Next-generation sequencing applied to molecular diagnostics
    Rachael Natrajan, Jorge Sergio Reis-Filho · 2011 · Expert Review of Molecular Diagnostics
  90. Malformations of Human Neocortex in Development – Their Progenitor Cell Basis and Experimental Model Systems
    Anneline Pinson, Takashi Namba, Wieland Β. Huttner · 2019 · Frontiers in Cellular Neuroscience
  91. An integrated functional and clinical genomics approach reveals genes driving aggressive metastatic prostate cancer
    Das, Rajdeep, Sjöström, Martin, Shrestha, Raunak, Yogodzinski, Christopher, Egusa, Emily A., Chesner, Lisa N., Chen, William S., Chou, Jonathan, Dang, Donna K., Swinderman, Jason T. et al. · 2021 · Nature Communications
  92. Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies
    Nikita Raje, Sarah Elizabeth Soden, Douglas S. Swanson, Christina E. Ciaccio, Stephen Francis Kingsmore, Darrell Lee Dinwiddie · 2014 · Current Allergy and Asthma Reports
  93. Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders
    Daniel C. Koboldt, David E. Larson, Lori S. Sullivan, Sara J. Bowne, Karyn Meltz Steinberg, Jennifer D. Churchill, Aimee C. Buhr, Nathan Nutter, Eric A. Pierce, Susan Halloran Blanton et al. · 2014 · The American Journal of Human Genetics
  94. Progress in defining the biological causes of schizophrenia
    Ben S. Pickard · 2011 · Expert Reviews in Molecular Medicine
  95. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders
    Alain Verloès, Séverine Drunat, Pierre Gressèns, Sandrine Passemard · 2013
  96. The genetics of congenitally small brains
    Sarah Duerinckx, Marc Abramowicz · 2017 · Seminars in Cell and Developmental Biology
  97. Same but different: pleiotropy in centrosome-related microcephaly
    Ryan S. O’Neill, Todd Andrew Schoborg, Nasser M. Rusan · 2018 · Molecular Biology of the Cell
  98. Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis ( CACP ) syndrome
    Saliha Yılmaz, Dilek Uludağ Alkaya, Özgür Kasapçopur, Kenan Barut, Ekin Su Akdemir, Cemre Celen, Mark W. Youngblood, Katsuhito Yasuno, Kaya Bilgüvar, Murat Günel et al. · 2018 · Molecular Genetics & Genomic Medicine
  99. Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes
    Kumpei Tanisawa, Eri Miyamoto‐Mikami, Noriyuki Fuku, Yoko Honda, Shuji Honda, Ikuro Ohsawa, Masafumi Ito, Shogo Endo, Kunio Ihara, Kinji Ohno et al. · 2013 · BMC Genomics
  100. The genetics of epilepsy—The past, the present and future
    Mark I. Rees · 2010 · Seizure