A citation-based method for searching scientific literature

Claudia M B Carvalho, Shivakumar Vasanth, Marwan Shinawi, Chad Russell, Melissa B Ramocki, Chester W Brown, Jesper Graakjaer, Anne-Bine Skytte, Angela M Vianna-Morgante, Ana C V Krepischi, Gayle S Patel, LaDonna Immken, Kyrieckos Aleck, Cynthia Lim, Sau Wai Cheung, Carla Rosenberg, Nicholas Katsanis, James R Lupski. Am J Hum Genet 2014
Times Cited: 28







List of co-cited articles
216 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Christelle Golzio, Jason Willer, Michael E Talkowski, Edwin C Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F Gusella,[...]. Nature 2012
240
46

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
676
17

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.
Scott Newman, Karen E Hermetz, Brooke Weckselblatt, M Katharine Rudd. Am J Hum Genet 2015
81
17

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
Andrew Dauber, Christelle Golzio, Cécile Guenot, Francine M Jodelka, Maria Kibaek, Susanne Kjaergaard, Bruno Leheup, Danielle Martinet, Malgorzata J M Nowaczyk, Jill A Rosenfeld,[...]. Am J Hum Genet 2013
49
17

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D Beckmann,[...]. Nature 2011
268
14

Mapping copy number variation by population-scale genome sequencing.
Ryan E Mills, Klaudia Walter, Chip Stewart, Robert E Handsaker, Ken Chen, Can Alkan, Alexej Abyzov, Seungtai Chris Yoon, Kai Ye, R Keira Cheetham,[...]. Nature 2011
714
14

Massive genomic rearrangement acquired in a single catastrophic event during cancer development.
Philip J Stephens, Chris D Greenman, Beiyuan Fu, Fengtang Yang, Graham R Bignell, Laura J Mudie, Erin D Pleasance, King Wai Lau, David Beare, Lucy A Stebbings,[...]. Cell 2011
14


Absence of heterozygosity due to template switching during replicative rearrangements.
Claudia M B Carvalho, Rolph Pfundt, Daniel A King, Sarah J Lindsay, Luciana W Zuccherato, Merryn V E Macville, Pengfei Liu, Diana Johnson, Pawel Stankiewicz, Chester W Brown,[...]. Am J Hum Genet 2015
37
14

Mechanisms for recurrent and complex human genomic rearrangements.
Pengfei Liu, Claudia M B Carvalho, P J Hastings, James R Lupski. Curr Opin Genet Dev 2012
216
14

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
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,[...]. Nat Genet 2006
433
14


Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
14

A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
820
14

Global variation in copy number in the human genome.
Richard Redon, Shumpei Ishikawa, Karen R Fitch, Lars Feuk, George H Perry, T Daniel Andrews, Heike Fiegler, Michael H Shapero, Andrew R Carson, Wenwei Chen,[...]. Nature 2006
10

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
J R Lupski, R M de Oca-Luna, S Slaugenhaupt, L Pentao, V Guzzetta, B J Trask, O Saucedo-Cardenas, D F Barker, J M Killian, C A Garcia,[...]. Cell 1991
10

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
Feng Zhang, Mehrdad Khajavi, Anne M Connolly, Charles F Towne, Sat Dev Batish, James R Lupski. Nat Genet 2009
300
10

Association between microdeletion and microduplication at 16p11.2 and autism.
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,[...]. N Engl J Med 2008
10


Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
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,[...]. J Med Genet 2010
324
10

DNA breaks and chromosome pulverization from errors in mitosis.
Karen Crasta, Neil J Ganem, Regina Dagher, Alexandra B Lantermann, Elena V Ivanova, Yunfeng Pan, Luigi Nezi, Alexei Protopopov, Dipanjan Chowdhury, David Pellman. Nature 2012
729
10

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Claudia M B Carvalho, Melissa B Ramocki, Davut Pehlivan, Luis M Franco, Claudia Gonzaga-Jauregui, Ping Fang, Alanna McCall, Eniko Karman Pivnick, Stacy Hines-Dowell, Laurie H Seaver,[...]. Nat Genet 2011
128
10

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
819
10


Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman,[...]. PLoS Genet 2015
41
10


Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.
Donald F Conrad, Christine Bird, Ben Blackburne, Sarah Lindsay, Lira Mamanova, Charles Lee, Daniel J Turner, Matthew E Hurles. Nat Genet 2010
175
10

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
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,[...]. Cell 2011
286
10

Genomic rearrangements and sporadic disease.
James R Lupski. Nat Genet 2007
291
10

Microduplications of 16p11.2 are associated with schizophrenia.
Shane E McCarthy, Vladimir Makarov, George Kirov, Anjene M Addington, Jon McClellan, Seungtai Yoon, Diana O Perkins, Diane E Dickel, Mary Kusenda, Olga Krastoshevsky,[...]. Nat Genet 2009
487
10

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Piotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, Jian Li, Stephen Amato, Michael Y Divon, Lisa Ximena Rodríguez Rojas, Lindsay E Elton, Daryl A Scott, Christian P Schaaf,[...]. Genome Res 2013
78
10

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
Pengfei Liu, Melanie Lacaria, Feng Zhang, Marjorie Withers, P J Hastings, James R Lupski. Am J Hum Genet 2011
74
10

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone,[...]. Nat Genet 2012
256
10

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.
Ian Blumenthal, Ashok Ragavendran, Serkan Erdin, Lambertus Klei, Aarathi Sugathan, Jolene R Guide, Poornima Manavalan, Julian Q Zhou, Vanessa C Wheeler, Joshua Z Levin,[...]. Am J Hum Genet 2014
70
10

Mutations in RAI1 associated with Smith-Magenis syndrome.
Rebecca E Slager, Tiffany Lynn Newton, Christopher N Vlangos, Brenda Finucane, Sarah H Elsea. Nat Genet 2003
204
10

Recent segmental duplications in the human genome.
Jeffrey A Bailey, Zhiping Gu, Royden A Clark, Knut Reinert, Rhea V Samonte, Stuart Schwartz, Mark D Adams, Eugene W Myers, Peter W Li, Evan E Eichler. Science 2002
935
10

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.
Thomas Portmann, Mu Yang, Rong Mao, Georgia Panagiotakos, Jacob Ellegood, Gul Dolen, Patrick L Bader, Brad A Grueter, Carleton Goold, Elaine Fisher,[...]. Cell Rep 2014
119
10

A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations.
Kim Fejgin, Jacob Nielsen, Michelle R Birknow, Jesper F Bastlund, Vibeke Nielsen, Jes B Lauridsen, Hreinn Stefansson, Stacy Steinberg, Helge B D Sorensen, Troels E Mortensen,[...]. Biol Psychiatry 2014
67
10

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.
Guy Horev, Jacob Ellegood, Jason P Lerch, Young-Eun E Son, Lakshmi Muthuswamy, Hannes Vogel, Abba M Krieger, Andreas Buja, R Mark Henkelman, Michael Wigler,[...]. Proc Natl Acad Sci U S A 2011
176
10

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.
Caitlin Rippey, Tom Walsh, Suleyman Gulsuner, Matt Brodsky, Alex S Nord, Molly Gasperini, Sarah Pierce, Cailyn Spurrell, Bradley P Coe, Niklas Krumm,[...]. Am J Hum Genet 2013
27
11


Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.
Richard Paylor, Beate Glaser, Annalisa Mupo, Paris Ataliotis, Corinne Spencer, Angela Sobotka, Chelsey Sparks, Chul-Hee Choi, John Oghalai, Sarah Curran,[...]. Proc Natl Acad Sci U S A 2006
197
10


An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.
Céline Pebrel-Richard, Anne Debost-Legrand, Eléonore Eymard-Pierre, Victoria Greze, Stéphan Kemeny, Mathilde Gay-Bellile, Laetitia Gouas, Andreï Tchirkov, Philippe Vago, Carole Goumy,[...]. Eur J Hum Genet 2014
11
27

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Philip M Boone, Bo Yuan, Ian M Campbell, Jennifer C Scull, Marjorie A Withers, Brett C Baggett, Christine R Beck, Christine J Shaw, Pawel Stankiewicz, Paolo Moretti,[...]. Am J Hum Genet 2014
60
10

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G Mulle, Stephen T Warren,[...]. Genet Med 2011
290
10

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
M O'Driscoll, K M Cerosaletti, P M Girard, Y Dai, M Stumm, B Kysela, B Hirsch, A Gennery, S E Palmer, J Seidel,[...]. Mol Cell 2001
372
10

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
972
10

PLINK: a tool set for whole-genome association and population-based linkage analyses.
Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A R Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I W de Bakker, Mark J Daly,[...]. Am J Hum Genet 2007
10

Characterising and predicting haploinsufficiency in the human genome.
Ni Huang, Insuk Lee, Edward M Marcotte, Matthew E Hurles. PLoS Genet 2010
418
10


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.