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Making headway with genetic diagnostics of intellectual disabilities

published in: Clinical Genetics

date of publication: 2013-08-26

main subject: disability

Cites articles 81

Date

Title

Authors

2013-04-01

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

Niels Tommerup, Rebecca Buchert, Eric P. Bennett, André Reis, Markus M Nöthen, Rami Abou Jamra, Shahid M Baig, Shoaib Ur Rehman
2013-03-21

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

Matthijs Raaben, Haluk Topaloglu
2013-03-07

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

Francesco Muntoni, Sebahattin Çırak, Yung-Yao Lin, Keren J Carss, Mustafa A. Salih, William B. Dobyns, Kevin P Campbell, Christopher A. Walsh, Matthew Hurles
2013-03-20

Comparative studies of copy number variation detection methods for next-generation sequencing technologies

Hong-Wen Deng
2013-03-15

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

Raoul Hennekam
2013-05-01

A genomic view of mosaicism and human disease

Leslie G Biesecker
2012-04-01

Genetic investigation for adults with intellectual disability: opportunities and challenges

Kate Baker
2012-03-01

Advances in whole-genome genetic testing: from chromosomes to microarrays
2012-04-29

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

Jeanne Amiel, Valérie Malan, Christian Gilissen, Hans Scheffer, Lisenka Vissers, Annette Schenck, Annick Toutain, Joris A Veltman, Han G. Brunner, Jamie M Kramer, Arjan P M de Brouwer, Kornelia Neveling, Willy M Nillesen, David A Koolen, Helger G Yntema, Ernie M H F Bongers, Sau Wai Cheung, Ton Feuth, Bert B A de Vries
2012-04-29

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
2012-11-15

Diagnostic exome sequencing in persons with severe intellectual disability

Joris A Veltman, Joep de Ligt, Christian Gilissen, Hans Scheffer, Alexander Hoischen, Han G. Brunner, Marjolein H Willemsen, Helger G Yntema, David A Koolen, Tjitske Kleefstra, Lisenka Vissers, Anneke T Vulto-van Silfhout, Bregje W van Bon, Thessa Kroes, Marisol Del Rosario, Bert B A de Vries
2012-11-10

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Andreas Tzschach, Christa Meisinger, Harald Grallert, Heinrich Sticht, Sabine Endele, Juliane Hoyer, André Reis, Anita Rauch, Dagmar Wieczorek, Thomas Meitinger, Christian T Thiel, Andreas Rump, Annette Schenck, Christiane Zweier, Arif B. Ekici, Olaf Riess, Denise Horn
2012-03-01

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

Lisenka Vissers, Joep de Ligt, Hans Van Bokhoven, Joris A Veltman, Han G. Brunner, Michèl A A P Willemsen, Tjitske Kleefstra, Marjolein H Willemsen, Bregje W van Bon, Dorien Lugtenberg, Ben Hamel, Bert B A de Vries
2012-11-15

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

Lisenka Vissers, Christian Gilissen, Joris A Veltman, Hans Van Bokhoven, Nicholas Katsanis, Han G. Brunner, Janneke H M Schuurs-Hoeijmakers, Mariëlle E M Swinkels, Michèl A A P Willemsen, Marloes Steehouwer, Arjan P M de Brouwer, Koenraad Devriendt, Bert B A de Vries
2012-04-04

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Evan E. Eichler, Jay Shendure, Elhanan Borenstein, Roie Levy, Deborah A Nickerson, Benjamin Vernot, Brian J O'Roak, Emily H Turner, Bradley P. Coe, Carl Edward Baker, Maika Malig, Choli Lee, Niklas Krumm, Ian B Stanaway, Joshua M. Akey, Santhosh Girirajan, Emre Karakoc, Mark J Rieder
2012-12-01

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation

Jun Wang, Jacob J Michaelson, Balvindar Singh, Lilia M. Iakoucheva, Jonathan Sebat, Steven A McCarroll
2012-04-26

Mutations in NSUN2 cause autosomal-recessive intellectual disability

Hossein Najmabadi, Kimia Kahrizi, Masoud Garshasbi
2012-04-19

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

Peter Frommolt, Gudrun Nürnberg, Hans Christian Hennies, Muhammad Sajid Hussain, Peter Nürnberg, Janine Altmüller, Shahid M Baig, Holger Thiele
2012-05-10

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

Elizabeth Nickerson, Stacey Gabriel, Sandra Blanco, Michaela Frye, Joseph G Gleeson, Lihadh Al-Gazali
2012-03-22

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

Vincent Cantagrel, Hudson H. Freeze, Amy S. Paller, Joseph G Gleeson
2012-04-06

Fragile X and X-linked intellectual disability: four decades of discovery
2012-04-01

On the future of genetic risk assessment

Hans-Hilger Ropers
2012-04-19

NGS catalog: A database of next generation sequencing studies in humans

William Pao, Peilin Jia, Zhongming Zhao, Junfeng Xia
2012-01-01

Fragile X syndrome and targeted treatment trials

Randi J. Hagerman
2011-01-13

Prevalence of intellectual disability: a meta-analysis of population-based studies

Pallab K. Maulik, Shekhar Saxena
2011-06-01

Comorbidity of intellectual disability and mental disorder in children and adolescents: a systematic review
2011-09-09

Genetic and epigenetic networks in intellectual disabilities

Hans Van Bokhoven
2011-09-28

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

David Michelson
2011-06-26

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Benjamín Rodríguez-Santiago, Christian Gilissen, Joris A Veltman, Alexander Hoischen, Anita Rauch, Han G. Brunner, Ruth Newbury-Ecob, Lisenka Vissers, Bregje W van Bon, Judith A Goodship, Bert B A de Vries, Dagmar Wieczorek
2011-06-15

Exome sequencing and the genetics of intellectual disability

Carole Ober
2011-09-21

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Hossein Najmabadi, Wei Chen, Farkhondeh Behjati, Vera M. Kalscheuer, Masoumeh Falah, Masoud Garshasbi, Stefan Haas, Reinhard Ullmann, Imma Rost, Bettina Lipkowitz, Luciana Musante, Tomasz Zemojtel, Anna Rajab
2011-07-07

A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family.

Hossein Najmabadi, Masoumeh Falah, Masoud Garshasbi

Article - wd:Q38124929

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