Literature DB >> 24167459

Late breaking chromosomes.

M Poot.   

Abstract

Year:  2013        PMID： 24167459      PMCID： PMC3776393          DOI： 10.1159/000354281

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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  13 in total

Review 1.  Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.

Authors:  M Poot; J J van der Smagt; E H Brilstra; T Bourgeron
Journal:  Cytogenet Genome Res       Date:  2011-11-12       Impact factor: 1.636

Review 2.  Decoding the genetics of speech and language.

Authors:  Sarah A Graham; Simon E Fisher
Journal:  Curr Opin Neurobiol       Date:  2012-12-07       Impact factor: 6.627

3.  A draft sequence of the Neandertal genome.

Authors:  Johannes Krause; Adrian W Briggs; Tomislav Maricic; Udo Stenzel; Martin Kircher; Nick Patterson; Richard E Green; Heng Li; Weiwei Zhai; Markus Hsi-Yang Fritz; Nancy F Hansen; Eric Y Durand; Anna-Sapfo Malaspinas; Jeffrey D Jensen; Tomas Marques-Bonet; Can Alkan; Kay Prüfer; Matthias Meyer; Hernán A Burbano; Jeffrey M Good; Rigo Schultz; Ayinuer Aximu-Petri; Anne Butthof; Barbara Höber; Barbara Höffner; Madlen Siegemund; Antje Weihmann; Chad Nusbaum; Eric S Lander; Carsten Russ; Nathaniel Novod; Jason Affourtit; Michael Egholm; Christine Verna; Pavao Rudan; Dejana Brajkovic; Željko Kucan; Ivan Gušic; Vladimir B Doronichev; Liubov V Golovanova; Carles Lalueza-Fox; Marco de la Rasilla; Javier Fortea; Antonio Rosas; Ralf W Schmitz; Philip L F Johnson; Evan E Eichler; Daniel Falush; Ewan Birney; James C Mullikin; Montgomery Slatkin; Rasmus Nielsen; Janet Kelso; Michael Lachmann; David Reich; Svante Pääbo
Journal:  Science       Date:  2010-05-07       Impact factor: 47.728

4.  Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.

Authors:  Sandesh C S Nagamani; Ayelet Erez; Bruria Ben-Zeev; Moshe Frydman; Susan Winter; Robert Zeller; Dima El-Khechen; Luis Escobar; Pawel Stankiewicz; Ankita Patel; Sau Wai Cheung
Journal:  Eur J Hum Genet       Date:  2012-08-08       Impact factor: 4.246

5.  A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.

Authors:  Xin-Li Huang; Ying S Zou; Tom A Maher; Stephanie Newton; Jeff M Milunsky
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

6.  Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

Authors:  Heather C Mefford; Hiltrud Muhle; Philipp Ostertag; Sarah von Spiczak; Karen Buysse; Carl Baker; Andre Franke; Alain Malafosse; Pierre Genton; Pierre Thomas; Christina A Gurnett; Stefan Schreiber; Alexander G Bassuk; Michel Guipponi; Ulrich Stephani; Ingo Helbig; Evan E Eichler
Journal:  PLoS Genet       Date:  2010-05-20       Impact factor: 5.917

7.  Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

Authors:  Martin Poot; Vera Beyer; Ira Schwaab; Natalja Damatova; Ruben Van't Slot; Jo Prothero; Sue E Holder; Thomas Haaf
Journal:  Neurogenetics       Date:  2009-07-07       Impact factor: 2.660

8.  Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.

Authors:  Vera M Kalscheuer; David FitzPatrick; Niels Tommerup; Merete Bugge; Erik Niebuhr; Luitgard M Neumann; Andreas Tzschach; Sarah A Shoichet; Corinna Menzel; Fikret Erdogan; Ger Arkesteijn; Hans-Hilger Ropers; Reinhard Ullmann
Journal:  Hum Genet       Date:  2007-01-09       Impact factor: 4.132

9.  Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Authors:  Gea Beunders; Els Voorhoeve; Christelle Golzio; Luba M Pardo; Jill A Rosenfeld; Michael E Talkowski; Ingrid Simonic; Anath C Lionel; Sarah Vergult; Robert E Pyatt; Jiddeke van de Kamp; Aggie Nieuwint; Marjan M Weiss; Patrizia Rizzu; Lucilla E N I Verwer; Rosalina M L van Spaendonk; Yiping Shen; Bai-lin Wu; Tingting Yu; Yongguo Yu; Colby Chiang; James F Gusella; Amelia M Lindgren; Cynthia C Morton; Ellen van Binsbergen; Saskia Bulk; Els van Rossem; Olivier Vanakker; Ruth Armstrong; Soo-Mi Park; Lynn Greenhalgh; Una Maye; Nicholas J Neill; Kristin M Abbott; Susan Sell; Roger Ladda; Darren M Farber; Patricia I Bader; Tom Cushing; Joanne M Drautz; Laura Konczal; Patricia Nash; Emily de Los Reyes; Melissa T Carter; Elizabeth Hopkins; Christian R Marshall; Lucy R Osborne; Karen W Gripp; Devon Lamb Thrush; Sayaka Hashimoto; Julie M Gastier-Foster; Caroline Astbury; Bauke Ylstra; Hanne Meijers-Heijboer; Danielle Posthuma; Björn Menten; Geert Mortier; Stephen W Scherer; Evan E Eichler; Santhosh Girirajan; Nicholas Katsanis; Alexander J Groffen; Erik A Sistermans
Journal:  Am J Hum Genet       Date:  2013-01-17       Impact factor: 11.025

10.  Function and regulation of AUTS2, a gene implicated in autism and human evolution.

Authors:  Nir Oksenberg; Laurie Stevison; Jeffrey D Wall; Nadav Ahituv
Journal:  PLoS Genet       Date:  2013-01-17       Impact factor: 5.917
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