Literature DB >> 21102619

New mutations and intellectual function.

James R Lupski.   

Abstract

Mesh:

Year:  2010        PMID: 21102619     DOI: 10.1038/ng1210-1036

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


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  12 in total

1.  Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

Authors:  Lata Vadlamudi; Leanne M Dibbens; Kate M Lawrence; Xenia Iona; Jacinta M McMahon; Wayne Murrell; Alan Mackay-Sim; Ingrid E Scheffer; Samuel F Berkovic
Journal:  N Engl J Med       Date:  2010-09-30       Impact factor: 91.245

2.  A de novo paradigm for mental retardation.

Authors:  Lisenka E L M Vissers; Joep de Ligt; Christian Gilissen; Irene Janssen; Marloes Steehouwer; Petra de Vries; Bart van Lier; Peer Arts; Nienke Wieskamp; Marisol del Rosario; Bregje W M van Bon; Alexander Hoischen; Bert B A de Vries; Han G Brunner; Joris A Veltman
Journal:  Nat Genet       Date:  2010-11-14       Impact factor: 38.330

Review 3.  Genomic rearrangements and sporadic disease.

Authors:  James R Lupski
Journal:  Nat Genet       Date:  2007-07       Impact factor: 38.330

Review 4.  Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia.

Authors:  Bernard Crespi; Philip Stead; Michael Elliot
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-01       Impact factor: 11.205

5.  Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

Authors:  Xin-Yan Lu; Mai T Phung; Chad A Shaw; Kim Pham; Sarah E Neil; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Pawel Stankiewicz; Sung-Hae Lee Kang; Seema Lalani; A Craig Chinault; James R Lupski; Sau W Cheung; Arthur L Beaudet
Journal:  Pediatrics       Date:  2008-12       Impact factor: 7.124

6.  A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.

Authors:  Jennifer A Lee; Claudia M B Carvalho; James R Lupski
Journal:  Cell       Date:  2007-12-28       Impact factor: 41.582

Review 7.  Mutation as a stress response and the regulation of evolvability.

Authors:  Rodrigo S Galhardo; P J Hastings; Susan M Rosenberg
Journal:  Crit Rev Biochem Mol Biol       Date:  2007 Sep-Oct       Impact factor: 8.250

8.  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

9.  The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Authors:  Feng Zhang; Mehrdad Khajavi; Anne M Connolly; Charles F Towne; Sat Dev Batish; James R Lupski
Journal:  Nat Genet       Date:  2009-06-21       Impact factor: 38.330

10.  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

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  15 in total

1.  Extrachromosomal microDNAs and chromosomal microdeletions in normal tissues.

Authors:  Yoshiyuki Shibata; Pankaj Kumar; Ryan Layer; Smaranda Willcox; Jeffrey R Gagan; Jack D Griffith; Anindya Dutta
Journal:  Science       Date:  2012-03-08       Impact factor: 47.728

2.  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

3.  Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.

Authors:  Pengfei Liu; Ayelet Erez; Sandesh C Sreenath Nagamani; Shweta U Dhar; Katarzyna E Kołodziejska; Avinash V Dharmadhikari; M Lance Cooper; Joanna Wiszniewska; Feng Zhang; Marjorie A Withers; Carlos A Bacino; Luis Daniel Campos-Acevedo; Mauricio R Delgado; Debra Freedenberg; Adolfo Garnica; Theresa A Grebe; Dolores Hernández-Almaguer; LaDonna Immken; Seema R Lalani; Scott D McLean; Hope Northrup; Fernando Scaglia; Lane Strathearn; Pamela Trapane; Sung-Hae L Kang; Ankita Patel; Sau Wai Cheung; P J Hastings; Paweł Stankiewicz; James R Lupski; Weimin Bi
Journal:  Cell       Date:  2011-09-16       Impact factor: 41.582

4.  Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.

Authors:  Zhe Sun; Pengfei Liu; Xueyuan Jia; Marjorie A Withers; Li Jin; James R Lupski; Feng Zhang
Journal:  Hum Mol Genet       Date:  2012-11-16       Impact factor: 6.150

5.  Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.

Authors:  Afif Ben-Mahmoud; Aisha M Al-Shamsi; Bassam R Ali; Lihadh Al-Gazali
Journal:  J Mol Neurosci       Date:  2020-03       Impact factor: 3.444

Review 6.  Genomic medicine and neurological disease.

Authors:  Philip M Boone; Wojciech Wiszniewski; James R Lupski
Journal:  Hum Genet       Date:  2011-05-19       Impact factor: 4.132

7.  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

8.  Production of Extrachromosomal MicroDNAs Is Linked to Mismatch Repair Pathways and Transcriptional Activity.

Authors:  Laura W Dillon; Pankaj Kumar; Yoshiyuki Shibata; Yuh-Hwa Wang; Smaranda Willcox; Jack D Griffith; Yves Pommier; Shunichi Takeda; Anindya Dutta
Journal:  Cell Rep       Date:  2015-06-04       Impact factor: 9.423

Review 9.  Insights into genetics, human biology and disease gleaned from family based genomic studies.

Authors:  Jennifer E Posey; Anne H O'Donnell-Luria; Jessica X Chong; Tamar Harel; Shalini N Jhangiani; Zeynep H Coban Akdemir; Steven Buyske; Davut Pehlivan; Claudia M B Carvalho; Samantha Baxter; Nara Sobreira; Pengfei Liu; Nan Wu; Jill A Rosenfeld; Sushant Kumar; Dimitri Avramopoulos; Janson J White; Kimberly F Doheny; P Dane Witmer; Corinne Boehm; V Reid Sutton; Donna M Muzny; Eric Boerwinkle; Murat Günel; Deborah A Nickerson; Shrikant Mane; Daniel G MacArthur; Richard A Gibbs; Ada Hamosh; Richard P Lifton; Tara C Matise; Heidi L Rehm; Mark Gerstein; Michael J Bamshad; David Valle; James R Lupski
Journal:  Genet Med       Date:  2019-01-18       Impact factor: 8.822

10.  Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Authors:  Maria Clara Bonaglia; Roberto Giorda; Silvana Beri; Cristina De Agostini; Francesca Novara; Marco Fichera; Lucia Grillo; Ornella Galesi; Annalisa Vetro; Roberto Ciccone; Maria Teresa Bonati; Sabrina Giglio; Renzo Guerrini; Sara Osimani; Susan Marelli; Claudio Zucca; Rita Grasso; Renato Borgatti; Elisa Mani; Cristina Motta; Massimo Molteni; Corrado Romano; Donatella Greco; Santina Reitano; Anna Baroncini; Elisabetta Lapi; Antonella Cecconi; Giulia Arrigo; Maria Grazia Patricelli; Chiara Pantaleoni; Stefano D'Arrigo; Daria Riva; Francesca Sciacca; Bernardo Dalla Bernardina; Leonardo Zoccante; Francesca Darra; Cristiano Termine; Emanuela Maserati; Stefania Bigoni; Emanuela Priolo; Armand Bottani; Stefania Gimelli; Frederique Bena; Alfredo Brusco; Eleonora di Gregorio; Irene Bagnasco; Ursula Giussani; Lucio Nitsch; Pierluigi Politi; Maria Luisa Martinez-Frias; Maria Luisa Martínez-Fernández; Nieves Martínez Guardia; Anna Bremer; Britt-Marie Anderlid; Orsetta Zuffardi
Journal:  PLoS Genet       Date:  2011-07-14       Impact factor: 5.917

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