Literature DB >> 22356326

Genomics, intellectual disability, and autism.

Heather C Mefford1, Mark L Batshaw, Eric P Hoffman.   

Abstract

Entities:  

Mesh：

Year:  2012        PMID： 22356326      PMCID： PMC4107681          DOI： 10.1056/NEJMra1114194

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  108 in total

1.  Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Authors:  Andrew J Sharp; Sierra Hansen; Rebecca R Selzer; Ze Cheng; Regina Regan; Jane A Hurst; Helen Stewart; Sue M Price; Edward Blair; Raoul C Hennekam; Carrie A Fitzpatrick; Rick Segraves; Todd A Richmond; Cheryl Guiver; Donna G Albertson; Daniel Pinkel; Peggy S Eis; Stuart Schwartz; Samantha J L Knight; Evan E Eichler
Journal:  Nat Genet       Date:  2006-08-13       Impact factor: 38.330

2.  3q29 interstitial microduplication: a new syndrome in a three-generation family.

Authors:  Emily C Lisi; Ada Hamosh; Kimberly F Doheny; Elizabeth Squibb; Barbara Jackson; Rebecca Galczynski; George H Thomas; Denise A S Batista
Journal:  Am J Med Genet A       Date:  2008-03-01       Impact factor: 2.802

3.  Pervasive developmental disorders in preschool children: confirmation of high prevalence.

Authors:  Suniti Chakrabarti; Eric Fombonne
Journal:  Am J Psychiatry       Date:  2005-06       Impact factor: 18.112

4.  De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Authors:  Lieve Claes; Berten Ceulemans; Dominique Audenaert; Katrien Smets; Ann Löfgren; Jurgen Del-Favero; Sirpa Ala-Mello; Lina Basel-Vanagaite; Barbara Plecko; Salmo Raskin; Paul Thiry; Nicole I Wolf; Christine Van Broeckhoven; Peter De Jonghe
Journal:  Hum Mutat       Date:  2003-06       Impact factor: 4.878

5.  Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Authors:  Nicola Brunetti-Pierri; Jonathan S Berg; Fernando Scaglia; John Belmont; Carlos A Bacino; Trilochan Sahoo; Seema R Lalani; Brett Graham; Brendan Lee; Marwan Shinawi; Joseph Shen; Sung-Hae L Kang; Amber Pursley; Timothy Lotze; Gail Kennedy; Susan Lansky-Shafer; Christine Weaver; Elizabeth R Roeder; Theresa A Grebe; Georgianne L Arnold; Terry Hutchison; Tyler Reimschisel; Stephen Amato; Michael T Geragthy; Jeffrey W Innis; Ewa Obersztyn; Beata Nowakowska; Sally S Rosengren; Patricia I Bader; Dorothy K Grange; Sayed Naqvi; Adolfo D Garnica; Saunder M Bernes; Chin-To Fong; Anne Summers; W David Walters; James R Lupski; Pawel Stankiewicz; Sau Wai Cheung; Ankita Patel
Journal:  Nat Genet       Date:  2008-12       Impact factor: 38.330

6.  Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

Authors:  Ayman W El-Hattab; Teresa A Smolarek; Martha E Walker; Elizabeth K Schorry; LaDonna L Immken; Gayle Patel; Mary-Alice Abbott; Brendan C Lanpher; Zhishuo Ou; Sung-Hae L Kang; Ankita Patel; Fernando Scaglia; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Journal:  Hum Genet       Date:  2009-06-26       Impact factor: 4.132

Review 7.  Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects.

Authors:  Gurdeep S Sagoo; Adam S Butterworth; Simon Sanderson; Charles Shaw-Smith; Julian P T Higgins; Hilary Burton
Journal:  Genet Med       Date:  2009-03       Impact factor: 8.822

8.  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

9.  Large recurrent microdeletions associated with schizophrenia.

Authors:  Hreinn Stefansson; Dan Rujescu; Sven Cichon; Olli P H Pietiläinen; Andres Ingason; Stacy Steinberg; Ragnheidur Fossdal; Engilbert Sigurdsson; Thordur Sigmundsson; Jacobine E Buizer-Voskamp; Thomas Hansen; Klaus D Jakobsen; Pierandrea Muglia; Clyde Francks; Paul M Matthews; Arnaldur Gylfason; Bjarni V Halldorsson; Daniel Gudbjartsson; Thorgeir E Thorgeirsson; Asgeir Sigurdsson; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Asgeir Bjornsson; Sigurborg Mattiasdottir; Thorarinn Blondal; Magnus Haraldsson; Brynja B Magnusdottir; Ina Giegling; Hans-Jürgen Möller; Annette Hartmann; Kevin V Shianna; Dongliang Ge; Anna C Need; Caroline Crombie; Gillian Fraser; Nicholas Walker; Jouko Lonnqvist; Jaana Suvisaari; Annamarie Tuulio-Henriksson; Tiina Paunio; Timi Toulopoulou; Elvira Bramon; Marta Di Forti; Robin Murray; Mirella Ruggeri; Evangelos Vassos; Sarah Tosato; Muriel Walshe; Tao Li; Catalina Vasilescu; Thomas W Mühleisen; August G Wang; Henrik Ullum; Srdjan Djurovic; Ingrid Melle; Jes Olesen; Lambertus A Kiemeney; Barbara Franke; Chiara Sabatti; Nelson B Freimer; Jeffrey R Gulcher; Unnur Thorsteinsdottir; Augustine Kong; Ole A Andreassen; Roel A Ophoff; Alexander Georgi; Marcella Rietschel; Thomas Werge; Hannes Petursson; David B Goldstein; Markus M Nöthen; Leena Peltonen; David A Collier; David St Clair; Kari Stefansson
Journal:  Nature       Date:  2008-09-11       Impact factor: 49.962

10.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Authors:  Brian J O'Roak; Pelagia Deriziotis; Choli Lee; Laura Vives; Jerrod J Schwartz; Santhosh Girirajan; Emre Karakoc; Alexandra P Mackenzie; Sarah B Ng; Carl Baker; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Simon E Fisher; Jay Shendure; Evan E Eichler
Journal:  Nat Genet       Date:  2011-05-15       Impact factor: 38.330
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  93 in total

Review 1.  Genetic studies in intellectual disability and related disorders.

Authors:  Lisenka E L M Vissers; Christian Gilissen; Joris A Veltman
Journal:  Nat Rev Genet       Date:  2015-10-27       Impact factor: 53.242

2.  Parents' perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders.

Authors:  Marian Reiff; Ellen Giarelli; Barbara A Bernhardt; Ebony Easley; Nancy B Spinner; Pamela L Sankar; Surabhi Mulchandani
Journal:  J Autism Dev Disord       Date:  2015-10

Review 3.  Diagnosing autism in neurobiological research studies.

Authors:  Rebecca M Jones; Catherine Lord
Journal:  Behav Brain Res       Date:  2012-11-12       Impact factor: 3.332

Review 4.  Should epileptiform discharges be treated?

Authors:  Iván Sánchez Fernández; Tobias Loddenkemper; Aristea S Galanopoulou; Solomon L Moshé
Journal:  Epilepsia       Date:  2015-08-21       Impact factor: 5.864

Review 5.  Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.

Authors:  Anand K Srivastava; Charles E Schwartz
Journal:  Neurosci Biobehav Rev       Date:  2014-04-04       Impact factor: 8.989

6.  Prenatal chromosomal microarray for the Catholic physician.

Authors:  Jay J Bringman
Journal:  Linacre Q       Date:  2014-05

7.  Genome sequencing identifies major causes of severe intellectual disability.

Authors:  Christian Gilissen; Jayne Y Hehir-Kwa; Djie Tjwan Thung; Maartje van de Vorst; Bregje W M van Bon; Marjolein H Willemsen; Michael Kwint; Irene M Janssen; Alexander Hoischen; Annette Schenck; Richard Leach; Robert Klein; Rick Tearle; Tan Bo; Rolph Pfundt; Helger G Yntema; Bert B A de Vries; Tjitske Kleefstra; Han G Brunner; Lisenka E L M Vissers; Joris A Veltman
Journal:  Nature       Date:  2014-06-04       Impact factor: 49.962

8.  Alterations in CA1 hippocampal synapses in a mouse model of fragile X syndrome.

Authors:  Safdar Jawaid; Grahame J Kidd; Jing Wang; Carrie Swetlik; Ranjan Dutta; Bruce D Trapp
Journal:  Glia       Date:  2017-12-23       Impact factor: 7.452

9.  Non-Mendelian etiologic factors in neuropsychiatric illness: pleiotropy, epigenetics, and convergence.

Authors:  Curtis K Deutsch; William J McIlvane
Journal:  Behav Brain Sci       Date:  2012-10       Impact factor: 12.579

10.  Maternal hormonal interventions as a risk factor for Autism Spectrum Disorder: an epidemiological assessment from India.

Authors:  Madhu Poornima Mamidala; Anupama Polinedi; P T V Praveen Kumar; N Rajesh; Omsai Ramesh Vallamkonda; Vrajesh Udani; Nidhi Singhal; Vidya Rajesh
Journal:  J Biosci       Date:  2013-12       Impact factor: 1.826
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