A genetic model for neurodevelopmental disease.

Current Opinion in Neurobiology
Bradley P CoeEvan E Eichler

Abstract

The genetic basis of neurodevelopmental and neuropsychiatric diseases has been advanced by the discovery of large and recurrent copy number variants significantly enriched in cases when compared to controls. The pattern of this variation strongly implies that rare variants contribute significantly to neurological disease; that different genes will be responsible for similar diseases in different families; and that the same 'primary' genetic lesions can result in a different disease outcome depending potentially on the genetic background. Next-generation sequencing technologies are beginning to broaden the spectrum of disease-causing variation and provide specificity by pinpointing both genes and pathways for future diagnostics and therapeutics.

References

Jul 1, 1987·Archives of General Psychiatry·D R Weinberger
Feb 5, 1981·The New England Journal of Medicine·D H LedbetterJ D Crawford
May 1, 1995·Nature Genetics·R OttmanM L Scheuer
May 18, 2000·Human Molecular Genetics·J K MillarD J Porteous
Aug 10, 2002·Science·Jeffrey A BaileyEvan E Eichler
Mar 17, 2007·Science·Jonathan SebatMichael Wigler
Jan 13, 2009·Nature Genetics·Ingo HelbigThomas Sander
May 19, 2009·Genome Research·Fereydoun HormozdiariS Cenk Sahinalp
Jan 12, 2010·Annual Review of Medicine·Paweł Stankiewicz, James R Lupski
Feb 16, 2010·Nature Genetics·Santhosh GirirajanEvan E Eichler
Apr 7, 2010·Archives of General Psychiatry·Detelina GrozevaUNKNOWN Wellcome Trust Case Control Consortium
Sep 9, 2010·Annual Review of Genomics and Human Genetics·Hans Hilger Ropers
Sep 16, 2010·Genome Research·Andy ItsaraEvan E Eichler
Sep 18, 2010·Human Mutation·Philip M BoonePawel Stankiewicz
Oct 30, 2010·Science·Peter H SudmantEvan E Eichler
Jan 29, 2011·American Journal of Medical Genetics. Part a·Anne BehneckeUte Moog
Feb 9, 2011·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·An CrepelHilde Peeters
Mar 2, 2011·Nature Reviews. Genetics·Can AlkanEvan E Eichler
Apr 13, 2011·Molecular Psychiatry·D M RuderferS M Purcell
Jun 1, 2011·Human Molecular Genetics·Christian P SchaafHuda Y Zoghbi
Aug 11, 2011·Bioinformatics·Jarupon Fah SathirapongsasutiStanley F Nelson
Aug 16, 2011·Nature Genetics·Gregory M CooperEvan E Eichler
Aug 17, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Erin B KaminskyChrista L Martin
Nov 9, 2011·Proceedings of the National Academy of Sciences of the United States of America·Ruibin XiPeter J Park
Dec 20, 2011·Nature Methods·Emre KarakocEvan E Eichler
Dec 27, 2011·Neuron·Santhosh Girirajan, Evan E Eichler
Dec 27, 2011·Neuron·Dheeraj MalhotraJonathan Sebat

❮ Previous
Next ❯

Citations

Sep 10, 2014·Current Opinion in Pediatrics·Fady M Mikhail
Jan 18, 2014·Neuropharmacology·Tjitske KleefstraHans van Bokhoven
Mar 24, 2016·Nature·Scott Bolkan, Joshua A Gordon
Mar 24, 2016·Nature·Michael F WellsMichael M Halassa
Jul 23, 2015·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Andrew PolyakSanthosh Girirajan
Aug 27, 2015·Genome Medicine·Andrew PolyakSanthosh Girirajan
Apr 29, 2014·Nucleic Acids Research·Daniel BackenrothYufeng Shen
Jun 5, 2015·Clinics in Perinatology·Christa Lese MartinDavid H Ledbetter
May 30, 2015·Pediatric Clinics of North America·Gyula Acsadi
Feb 5, 2013·American Journal of Human Genetics·Santhosh GirirajanEvan E Eichler
Sep 18, 2018·Expert Review of Molecular Diagnostics·Jayne Y Hehir-KwaPatrick Kemmeren
Jan 9, 2013·Epilepsia·Rikke S MøllerUNKNOWN EPICURE Consortium
Feb 14, 2020·PLoS Genetics·Mayanglambam Dhruba SinghSanthosh Girirajan
Jun 23, 2020·Brain : a Journal of Neurology·Lisa-Marie NiestrojUNKNOWN Epi25 Collaborative
May 6, 2017·American Journal of Medical Genetics. Part a·Ying QiaoEvica Rajcan-Separovic
Nov 30, 2019·Frontiers in Neuroscience·Ana Fernández-MarmiesseMargarita Martínez-Atienza

❮ Previous
Next ❯

Related Concepts

Related Feeds

Bipolar Disorder

Bipolar disorder is characterized by manic and/or depressive episodes and associated with uncommon shifts in mood, activity levels, and energy. Discover the latest research this illness here.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.

Autism: Treatment Targets

The absence of effective treatments for autism are due to the high clinical and genetic heterogeneity between affected individuals, restricted knowledge of the underlying pathophysiological mechanisms, and the lack of reliable diagnostic biomarkers. Identification of more homogenous biological subgroups is therefore essential for the development of novel treatments based on the molecular mechanisms underpinning autism and autism spectrum disorders. Find the latest research on autism treatment targets here.