Literature DB >> 24550758

Late breaking chromosomes.

M Poot.   

Abstract

Year:  2014        PMID: 24550758      PMCID: PMC3919436          DOI: 10.1159/000355850

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


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  24 in total

Review 1.  Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

Authors:  J Zhang; L Feuk; G E Duggan; R Khaja; S W Scherer
Journal:  Cytogenet Genome Res       Date:  2006       Impact factor: 1.636

Review 2.  Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.

Authors:  R Hochstenbach; J E Buizer-Voskamp; J A S Vorstman; R A Ophoff
Journal:  Cytogenet Genome Res       Date:  2011-11-02       Impact factor: 1.636

3.  Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders.

Authors:  M Poot
Journal:  Mol Syndromol       Date:  2013-04-04

Review 4.  Phenotypic variability and genetic susceptibility to genomic disorders.

Authors:  Santhosh Girirajan; Evan E Eichler
Journal:  Hum Mol Genet       Date:  2010-08-31       Impact factor: 6.150

5.  Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Authors:  Marwan Shinawi; Pengfei Liu; Sung-Hae L Kang; Joseph Shen; John W Belmont; Daryl A Scott; Frank J Probst; William J Craigen; Brett H Graham; Amber Pursley; Gary Clark; Jennifer Lee; Monica Proud; Amber Stocco; Diana L Rodriguez; Beth A Kozel; Steven Sparagana; Elizabeth R Roeder; Susan G McGrew; Thaddeus W Kurczynski; Leslie J Allison; Stephen Amato; Sarah Savage; Ankita Patel; Pawel Stankiewicz; Arthur L Beaudet; Sau Wai Cheung; James R Lupski
Journal:  J Med Genet       Date:  2009-11-12       Impact factor: 6.318

6.  Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Authors:  Santhosh Girirajan; Jill A Rosenfeld; Bradley P Coe; Sumit Parikh; Neil Friedman; Amy Goldstein; Robyn A Filipink; Juliann S McConnell; Brad Angle; Wendy S Meschino; Marjan M Nezarati; Alexander Asamoah; Kelly E Jackson; Gordon C Gowans; Judith A Martin; Erin P Carmany; David W Stockton; Rhonda E Schnur; Lynette S Penney; Donna M Martin; Salmo Raskin; Kathleen Leppig; Heidi Thiese; Rosemarie Smith; Erika Aberg; Dmitriy M Niyazov; Luis F Escobar; Dima El-Khechen; Kisha D Johnson; Robert R Lebel; Kiana Siefkas; Susie Ball; Natasha Shur; Marianne McGuire; Campbell K Brasington; J Edward Spence; Laura S Martin; Carol Clericuzio; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  N Engl J Med       Date:  2012-09-12       Impact factor: 91.245

Review 7.  The genetic variability and commonality of neurodevelopmental disease.

Authors:  Bradley P Coe; Santhosh Girirajan; Evan E Eichler
Journal:  Am J Med Genet C Semin Med Genet       Date:  2012-04-12       Impact factor: 3.908

8.  Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.

Authors:  Jill A Rosenfeld; Justine Coppinger; Bassem A Bejjani; Santhosh Girirajan; Evan E Eichler; Lisa G Shaffer; Blake C Ballif
Journal:  J Neurodev Disord       Date:  2010-03       Impact factor: 4.025

9.  Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Authors:  Claire S Leblond; Jutta Heinrich; Richard Delorme; Christian Proepper; Catalina Betancur; Guillaume Huguet; Marina Konyukh; Pauline Chaste; Elodie Ey; Maria Rastam; Henrik Anckarsäter; Gudrun Nygren; I Carina Gillberg; Jonas Melke; Roberto Toro; Beatrice Regnault; Fabien Fauchereau; Oriane Mercati; Nathalie Lemière; David Skuse; Martin Poot; Richard Holt; Anthony P Monaco; Irma Järvelä; Katri Kantojärvi; Raija Vanhala; Sarah Curran; David A Collier; Patrick Bolton; Andreas Chiocchetti; Sabine M Klauck; Fritz Poustka; Christine M Freitag; Regina Waltes; Marnie Kopp; Eftichia Duketis; Elena Bacchelli; Fiorella Minopoli; Liliana Ruta; Agatino Battaglia; Luigi Mazzone; Elena Maestrini; Ana F Sequeira; Barbara Oliveira; Astrid Vicente; Guiomar Oliveira; Dalila Pinto; Stephen W Scherer; Diana Zelenika; Marc Delepine; Mark Lathrop; Dominique Bonneau; Vincent Guinchat; Françoise Devillard; Brigitte Assouline; Marie-Christine Mouren; Marion Leboyer; Christopher Gillberg; Tobias M Boeckers; Thomas Bourgeron
Journal:  PLoS Genet       Date:  2012-02-09       Impact factor: 5.917

10.  Microduplications of 16p11.2 are associated with schizophrenia.

Authors:  Shane E McCarthy; Vladimir Makarov; George Kirov; Anjene M Addington; Jon McClellan; Seungtai Yoon; Diana O Perkins; Diane E Dickel; Mary Kusenda; Olga Krastoshevsky; Verena Krause; Ravinesh A Kumar; Detelina Grozeva; Dheeraj Malhotra; Tom Walsh; Elaine H Zackai; Paige Kaplan; Jaya Ganesh; Ian D Krantz; Nancy B Spinner; Patricia Roccanova; Abhishek Bhandari; Kevin Pavon; B Lakshmi; Anthony Leotta; Jude Kendall; Yoon-Ha Lee; Vladimir Vacic; Sydney Gary; Lilia M Iakoucheva; Timothy J Crow; Susan L Christian; Jeffrey A Lieberman; T Scott Stroup; Terho Lehtimäki; Kaija Puura; Chad Haldeman-Englert; Justin Pearl; Meredith Goodell; Virginia L Willour; Pamela Derosse; Jo Steele; Layla Kassem; Jessica Wolff; Nisha Chitkara; Francis J McMahon; Anil K Malhotra; James B Potash; Thomas G Schulze; Markus M Nöthen; Sven Cichon; Marcella Rietschel; Ellen Leibenluft; Vlad Kustanovich; Clara M Lajonchere; James S Sutcliffe; David Skuse; Michael Gill; Louise Gallagher; Nancy R Mendell; Nick Craddock; Michael J Owen; Michael C O'Donovan; Tamim H Shaikh; Ezra Susser; Lynn E Delisi; Patrick F Sullivan; Curtis K Deutsch; Judith Rapoport; Deborah L Levy; Mary-Claire King; Jonathan Sebat
Journal:  Nat Genet       Date:  2009-10-25       Impact factor: 38.330

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