Literature DB >> 26010630

Cognitive phenotypes and genomic copy number variations.

James R Lupski1.   

Abstract

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Year:  2015        PMID： 26010630      PMCID： PMC4465197          DOI： 10.1001/jama.2015.4846

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  17 in total

1.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

2.  Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Authors:  Anita Rauch; Dagmar Wieczorek; Elisabeth Graf; Thomas Wieland; Sabine Endele; Thomas Schwarzmayr; Beate Albrecht; Deborah Bartholdi; Jasmin Beygo; Nataliya Di Donato; Andreas Dufke; Kirsten Cremer; Maja Hempel; Denise Horn; Juliane Hoyer; Pascal Joset; Albrecht Röpke; Ute Moog; Angelika Riess; Christian T Thiel; Andreas Tzschach; Antje Wiesener; Eva Wohlleber; Christiane Zweier; Arif B Ekici; Alexander M Zink; Andreas Rump; Christa Meisinger; Harald Grallert; Heinrich Sticht; Annette Schenck; Hartmut Engels; Gudrun Rappold; Evelin Schröck; Peter Wieacker; Olaf Riess; Thomas Meitinger; André Reis; Tim M Strom
Journal:  Lancet       Date:  2012-09-27       Impact factor: 79.321

Review 3.  Structural variation mutagenesis of the human genome: Impact on disease and evolution.

Authors:  James R Lupski
Journal:  Environ Mol Mutagen       Date:  2015-04-17       Impact factor: 3.216

4.  Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.

Authors:  Melanie Lacaria; Corinne Spencer; Wenli Gu; Richard Paylor; James R Lupski
Journal:  Hum Mol Genet       Date:  2012-04-05       Impact factor: 6.150

5.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

6.  Diagnostic exome sequencing in persons with severe intellectual disability.

Authors:  Joep de Ligt; Marjolein H Willemsen; Bregje W M van Bon; Tjitske Kleefstra; Helger G Yntema; Thessa Kroes; Anneke T Vulto-van Silfhout; David A Koolen; Petra de Vries; Christian Gilissen; Marisol del Rosario; Alexander Hoischen; Hans Scheffer; Bert B A de Vries; Han G Brunner; Joris A Veltman; Lisenka E L M Vissers
Journal:  N Engl J Med       Date:  2012-10-03       Impact factor: 91.245

7.  The role of cognitive ability (intelligence) in explaining the association between socioeconomic position and health: evidence from the Whitehall II prospective cohort study.

Authors:  Archana Singh-Manoux; Jane E Ferrie; John W Lynch; Michael Marmot
Journal:  Am J Epidemiol       Date:  2005-05-01       Impact factor: 4.897

8.  Copy number variations and cognitive phenotypes in unselected populations.

Authors:  Katrin Männik; Reedik Mägi; Aurélien Macé; Ben Cole; Anna L Guyatt; Hashem A Shihab; Anne M Maillard; Helene Alavere; Anneli Kolk; Anu Reigo; Evelin Mihailov; Liis Leitsalu; Anne-Maud Ferreira; Margit Nõukas; Alexander Teumer; Erika Salvi; Daniele Cusi; Matt McGue; William G Iacono; Tom R Gaunt; Jacques S Beckmann; Sébastien Jacquemont; Zoltán Kutalik; Nathan Pankratz; Nicholas Timpson; Andres Metspalu; Alexandre Reymond
Journal:  JAMA       Date:  2015-05-26       Impact factor: 56.272

9.  ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.

Authors:  Sarah T South; Charles Lee; Allen N Lamb; Anne W Higgins; Hutton M Kearney
Journal:  Genet Med       Date:  2013-09-26       Impact factor: 8.822

10.  Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Authors:  Bradley P Coe; Kali Witherspoon; Jill A Rosenfeld; Bregje W M van Bon; Anneke T Vulto-van Silfhout; Paolo Bosco; Kathryn L Friend; Carl Baker; Serafino Buono; Lisenka E L M Vissers; Janneke H Schuurs-Hoeijmakers; Alex Hoischen; Rolph Pfundt; Nik Krumm; Gemma L Carvill; Deana Li; David Amaral; Natasha Brown; Paul J Lockhart; Ingrid E Scheffer; Antonino Alberti; Marie Shaw; Rosa Pettinato; Raymond Tervo; Nicole de Leeuw; Margot R F Reijnders; Beth S Torchia; Hilde Peeters; Brian J O'Roak; Marco Fichera; Jayne Y Hehir-Kwa; Jay Shendure; Heather C Mefford; Eric Haan; Jozef Gécz; Bert B A de Vries; Corrado Romano; Evan E Eichler
Journal:  Nat Genet       Date:  2014-09-14       Impact factor: 38.330
View more
  8 in total

1.  2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

Authors:  James R Lupski
Journal:  Am J Hum Genet       Date:  2019-03-07       Impact factor: 11.025

2.  Clan genomics: From OMIM phenotypic traits to genes and biology.

Authors:  James R Lupski
Journal:  Am J Med Genet A       Date:  2021-08-18       Impact factor: 2.802

Review 3.  Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.

Authors:  James R Lupski
Journal:  Trends Genet       Date:  2022-04-18       Impact factor: 11.821

4.  Clinical genomics and contextualizing genome variation in the diagnostic laboratory.

Authors:  James R Lupski; Pengfei Liu; Pawel Stankiewicz; Claudia M B Carvalho; Jennifer E Posey
Journal:  Expert Rev Mol Diagn       Date:  2020-10-10       Impact factor: 5.225

5.  A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

Authors:  Aimé Lumaka; Valerie Race; Hilde Peeters; Anniek Corveleyn; Zeynep Coban-Akdemir; Shalini N Jhangiani; Xiaofei Song; Gerrye Mubungu; Jennifer Posey; James R Lupski; Joris R Vermeesch; Prosper Lukusa; Koenraad Devriendt
Journal:  Am J Med Genet A       Date:  2018-08-08       Impact factor: 2.802

6.  Identification of novel candidate disease genes from de novo exonic copy number variants.

Authors:  Tomasz Gambin; Bo Yuan; Weimin Bi; Pengfei Liu; Jill A Rosenfeld; Zeynep Coban-Akdemir; Amber N Pursley; Sandesh C S Nagamani; Ronit Marom; Sailaja Golla; Lauren Dengle; Heather G Petrie; Reuben Matalon; Lisa Emrick; Monica B Proud; Diane Treadwell-Deering; Hsiao-Tuan Chao; Hannele Koillinen; Chester Brown; Nora Urraca; Roya Mostafavi; Saunder Bernes; Elizabeth R Roeder; Kimberly M Nugent; Patricia I Bader; Gary Bellus; Michael Cummings; Hope Northrup; Myla Ashfaq; Rachel Westman; Robert Wildin; Anita E Beck; LaDonna Immken; Lindsay Elton; Shaun Varghese; Edward Buchanan; Laurence Faivre; Mathilde Lefebvre; Christian P Schaaf; Magdalena Walkiewicz; Yaping Yang; Sung-Hae L Kang; Seema R Lalani; Carlos A Bacino; Arthur L Beaudet; Amy M Breman; Janice L Smith; Sau Wai Cheung; James R Lupski; Ankita Patel; Chad A Shaw; Paweł Stankiewicz
Journal:  Genome Med       Date:  2017-09-21       Impact factor: 11.117

7.  Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Authors:  Bo Yuan; Katharina V Schulze; Nurit Assia Batzir; Jefferson Sinson; Hongzheng Dai; Wenmiao Zhu; Francia Bocanegra; Chin-To Fong; Jimmy Holder; Joanne Nguyen; Christian P Schaaf; Yaping Yang; Weimin Bi; Christine Eng; Chad Shaw; James R Lupski; Pengfei Liu
Journal:  Genome Med       Date:  2022-09-30       Impact factor: 15.266

8.  POGZ truncating alleles cause syndromic intellectual disability.

Authors:  Janson White; Christine R Beck; Tamar Harel; Jennifer E Posey; Shalini N Jhangiani; Sha Tang; Kelly D Farwell; Zöe Powis; Nancy J Mendelsohn; Janice A Baker; Lynda Pollack; Kati J Mason; Klaas J Wierenga; Daniel K Arrington; Melissa Hall; Apostolos Psychogios; Laura Fairbrother; Magdalena Walkiewicz; Richard E Person; Zhiyv Niu; Jing Zhang; Jill A Rosenfeld; Donna M Muzny; Christine Eng; Arthur L Beaudet; James R Lupski; Eric Boerwinkle; Richard A Gibbs; Yaping Yang; Fan Xia; V Reid Sutton
Journal:  Genome Med       Date:  2016-01-06       Impact factor: 15.266
  8 in total

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