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Literature DB >> 25843334

Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism".

Michael H Duyzend¹, Evan E Eichler².

Abstract

Entities: Chemical

Mesh：

Year: 2015 PMID： 25843334 PMCID： PMC4657856 DOI： 10.1016/j.biopsych.2015.02.032

Source DB: PubMed Journal: Biol Psychiatry ISSN： 0006-3223 Impact factor: 13.382

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10 in total

1. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

Authors: Ellen Hanson; Raphael Bernier; Ken Porche; Frank I Jackson; Robin P Goin-Kochel; LeeAnne Green Snyder; Anne V Snow; Arianne Stevens Wallace; Katherine L Campe; Yuan Zhang; Qixuan Chen; Debra D'Angelo; Andres Moreno-De-Luca; Patrick T Orr; K B Boomer; David W Evans; Stephen Kanne; Leandra Berry; Fiona K Miller; Jennifer Olson; Elliot Sherr; Christa L Martin; David H Ledbetter; John E Spiro; Wendy K Chung
Journal: Biol Psychiatry Date: 2014-06-16 Impact factor: 13.382

2. Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.

Authors:
Journal: Neuron Date: 2012-03-21 Impact factor: 17.173

3. Cerebral asymmetry and handedness.

Authors: L E White; G Lucas; A Richards; D Purves
Journal: Nature Date: 1994-03-17 Impact factor: 49.962

4. Recurrent 16p11.2 microdeletions in autism.

Authors: Ravinesh A Kumar; Samer KaraMohamed; Jyotsna Sudi; Donald F Conrad; Camille Brune; Judith A Badner; T Conrad Gilliam; Norma J Nowak; Edwin H Cook; William B Dobyns; Susan L Christian
Journal: Hum Mol Genet Date: 2007-12-21 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. Association between microdeletion and microduplication at 16p11.2 and autism.

Authors: Lauren A Weiss; Yiping Shen; Joshua M Korn; Dan E Arking; David T Miller; Ragnheidur Fossdal; Evald Saemundsen; Hreinn Stefansson; Manuel A R Ferreira; Todd Green; Orah S Platt; Douglas M Ruderfer; Christopher A Walsh; David Altshuler; Aravinda Chakravarti; Rudolph E Tanzi; Kari Stefansson; Susan L Santangelo; James F Gusella; Pamela Sklar; Bai-Lin Wu; Mark J Daly
Journal: N Engl J Med Date: 2008-01-09 Impact factor: 91.245

7. CNVs conferring risk of autism or schizophrenia affect cognition in controls.

Authors: Hreinn Stefansson; Andreas Meyer-Lindenberg; Stacy Steinberg; Brynja Magnusdottir; Katrin Morgen; Sunna Arnarsdottir; Gyda Bjornsdottir; G Bragi Walters; Gudrun A Jonsdottir; Orla M Doyle; Heike Tost; Oliver Grimm; Solveig Kristjansdottir; Heimir Snorrason; Solveig R Davidsdottir; Larus J Gudmundsson; Gudbjorn F Jonsson; Berglind Stefansdottir; Isafold Helgadottir; Magnus Haraldsson; Birna Jonsdottir; Johan H Thygesen; Adam J Schwarz; Michael Didriksen; Tine B Stensbøl; Michael Brammer; Shitij Kapur; Jonas G Halldorsson; Stefan Hreidarsson; Evald Saemundsen; Engilbert Sigurdsson; Kari Stefansson
Journal: Nature Date: 2013-12-18 Impact factor: 49.962

8. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Authors: Flore Zufferey; Elliott H Sherr; Noam D Beckmann; Ellen Hanson; Anne M Maillard; Loyse Hippolyte; Aurélien Macé; Carina Ferrari; Zoltán Kutalik; Joris Andrieux; Elizabeth Aylward; Mandy Barker; Raphael Bernier; Sonia Bouquillon; Philippe Conus; Bruno Delobel; W Andrew Faucett; Robin P Goin-Kochel; Ellen Grant; Louise Harewood; Jill V Hunter; Sébastien Lebon; David H Ledbetter; Christa Lese Martin; Katrin Männik; Danielle Martinet; Pratik Mukherjee; Melissa B Ramocki; Sarah J Spence; Kyle J Steinman; Jennifer Tjernagel; John E Spiro; Alexandre Reymond; Jacques S Beckmann; Wendy K Chung; Sébastien Jacquemont
Journal: J Med Genet Date: 2012-10 Impact factor: 6.318

9. A genotype-first approach to defining the subtypes of a complex disease.

Authors: Holly A Stessman; Raphael Bernier; Evan E Eichler
Journal: Cell Date: 2014-02-27 Impact factor: 41.582

10. Disruptive CHD8 mutations define a subtype of autism early in development.

Authors: Raphael Bernier; Christelle Golzio; Bo Xiong; Holly A Stessman; Bradley P Coe; Osnat Penn; Kali Witherspoon; Jennifer Gerdts; Carl Baker; Anneke T Vulto-van Silfhout; Janneke H Schuurs-Hoeijmakers; Marco Fichera; Paolo Bosco; Serafino Buono; Antonino Alberti; Pinella Failla; Hilde Peeters; Jean Steyaert; Lisenka E L M Vissers; Ludmila Francescatto; Heather C Mefford; Jill A Rosenfeld; Trygve Bakken; Brian J O'Roak; Matthew Pawlus; Randall Moon; Jay Shendure; David G Amaral; Ed Lein; Julia Rankin; Corrado Romano; Bert B A de Vries; Nicholas Katsanis; Evan E Eichler
Journal: Cell Date: 2014-07-03 Impact factor: 41.582

10 in total

9 in total

1. COPD diagnosis: genome first.

Authors: Lawrence Grouse
Journal: J Thorac Dis Date: 2015-10 Impact factor: 2.895

Review 2. The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress.

Authors: Anne B Arnett; Sandy Trinh; Raphael A Bernier
Journal: Curr Opin Psychol Date: 2018-07-21

Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism".

1. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

2. Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.

3. Cerebral asymmetry and handedness.

4. Recurrent 16p11.2 microdeletions in autism.

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

6. Association between microdeletion and microduplication at 16p11.2 and autism.

7. CNVs conferring risk of autism or schizophrenia affect cognition in controls.

8. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

9. A genotype-first approach to defining the subtypes of a complex disease.

10. Disruptive CHD8 mutations define a subtype of autism early in development.

1. COPD diagnosis: genome first.

Review 2. The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress.

3. Translational genetic research of complex diseases.

4. Male-specific deficits in natural reward learning in a mouse model of neurodevelopmental disorders.

5. 16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks.

Review 6. Neurodevelopmental disorders-the history and future of a diagnostic concept .

7. 16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.

8. Quantitative gait assessment in children with 16p11.2 syndrome.

Review 9. Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders.

Review 2. The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress.

Review 6. Neurodevelopmental disorders-the history and future of a diagnostic concept .

Review 9. Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders.

Review 6. Neurodevelopmental disorders-the history and future of a diagnostic concept .