A citation-based method for searching scientific literature

N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie, Z S Gucev, S Liu, N Yang, H Al-Kateb, J Chen, J Zhang, N Hauser, T Zhang, V Tasic, P Liu, X Su, X Pan, C Liu, L Wang, J Shen, J Shen, Y Chen, T Zhang, J Zhang, K W Choy, J Wang, Q Wang, S Li, W Zhou, J Guo, Y Wang, C Zhang, Hong Zhao, Yu An, Yu Zhao, J Wang, Z Liu, Y Zuo, Y Tian, X Weng, V R Sutton, H Wang, Y Ming, S Kulkarni, T P Zhong, P F Giampietro, S L Dunwoodie, S W Cheung, X Zhang, L Jin, J R Lupski, G Qiu, F Zhang. N Engl J Med 2015
Times Cited: 143







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



Times Cited
  Times     Co-cited
Similarity


TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Jiaqi Liu, Nan Wu, Nan Yang, Kazuki Takeda, Weisheng Chen, Weiyu Li, Renqian Du, Sen Liu, Yangzhong Zhou, Ling Zhang,[...]. Genet Med 2019
24
100

TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice.
Nan Yang, Nan Wu, Ling Zhang, Yanxue Zhao, Jiaqi Liu, Xiangyu Liang, Xiaojun Ren, Weiyu Li, Weisheng Chen, Shuangshuang Dong,[...]. Hum Mol Genet 2019
24
91

A mechanism for gene-environment interaction in the etiology of congenital scoliosis.
Duncan B Sparrow, Gavin Chapman, Allanceson J Smith, Muhammad Z Mattar, Joelene A Major, Victoria C O'Reilly, Yumiko Saga, Elaine H Zackai, John P Dormans, Benjamin A Alman,[...]. Cell 2012
122
19

Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Kazuki Takeda, Ikuyo Kou, Noriaki Kawakami, Aritoshi Iida, Masahiro Nakajima, Yoji Ogura, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto, Yukuto Yasuhiko,[...]. Hum Mutat 2017
25
72

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Duncan B Sparrow, Aideen McInerney-Leo, Zoran S Gucev, Brooke Gardiner, Mhairi Marshall, Paul J Leo, Deborah L Chapman, Velibor Tasic, Abduhadi Shishko, Matthew A Brown,[...]. Hum Mol Genet 2013
56
30

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
16

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
315
16

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
16

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
M Lefebvre, Y Duffourd, T Jouan, C Poe, N Jean-Marçais, A Verloes, J St-Onge, J-B Riviere, F Petit, G Pierquin,[...]. Clin Genet 2017
19
84

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding,[...]. N Engl J Med 2017
301
14

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
243
13


Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
12


A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Flore Zufferey, Elliott H Sherr, Noam D Beckmann, Ellen Hanson, Anne M Maillard, Loyse Hippolyte, Aurélien Macé, Carina Ferrari, Zoltán Kutalik, Joris Andrieux,[...]. J Med Genet 2012
152
10

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.
Duncan B Sparrow, Encarna Guillén-Navarro, Diane Fatkin, Sally L Dunwoodie. Hum Mol Genet 2008
82
12

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.
D B Sparrow, G Chapman, M A Wouters, N V Whittock, S Ellard, D Fatkin, P D Turnpenny, K Kusumi, D Sillence, S L Dunwoodie. Am J Hum Genet 2006
155
10

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
10

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
M P Bulman, K Kusumi, T M Frayling, C McKeown, C Garrett, E S Lander, R Krumlauf, A T Hattersley, S Ellard, P D Turnpenny. Nat Genet 2000
265
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
772
10

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Zeynep Coban-Akdemir, Janson J White, Xiaofei Song, Shalini N Jhangiani, Jawid M Fatih, Tomasz Gambin, Yavuz Bayram, Ivan K Chinn, Ender Karaca, Jaya Punetha,[...]. Am J Hum Genet 2018
64
15

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
259
9

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
R G Walters, S Jacquemont, A Valsesia, A J de Smith, D Martinet, J Andersson, M Falchi, F Chen, J Andrieux, S Lobbens,[...]. Nature 2010
315
9

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N Jhangiani, Matthew N Bainbridge,[...]. Cell Rep 2015
136
9

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.
Hussam Al-Kateb, Geetika Khanna, Isabel Filges, Natalie Hauser, Dorothy K Grange, Joseph Shen, Christopher D Smyser, Shashikant Kulkarni, Marwan Shinawi. Am J Med Genet A 2014
24
37

Mutated MESP2 causes spondylocostal dysostosis in humans.
Neil V Whittock, Duncan B Sparrow, Merridee A Wouters, David Sillence, Sian Ellard, Sally L Dunwoodie, Peter D Turnpenny. Am J Hum Genet 2004
105
9

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Aideen M McInerney-Leo, Duncan B Sparrow, Jessica E Harris, Brooke B Gardiner, Mhairi S Marshall, Victoria C O'Reilly, Hongjun Shi, Matthew A Brown, Paul J Leo, Andreas Zankl,[...]. Hum Mol Genet 2015
26
34

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang,[...]. Elife 2016
91
9

Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans.
Philip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, Olivier Pourquié, Olivier Tassy, Amaka C Offiah, Alberto S Cornier, Benjamin A Alman, Robert D Blank, Cathleen L Raggio,[...]. Ann N Y Acad Sci 2009
39
23

Clinical, genetic and environmental factors associated with congenital vertebral malformations.
P F Giampietro, C L Raggio, R D Blank, C McCarty, U Broeckel, M A Pickart. Mol Syndromol 2013
43
18

Recurrent 16p11.2 microdeletions in autism.
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,[...]. Hum Mol Genet 2008
458
8

Phenotypic expansion illuminates multilocus pathogenic variation.
Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, Davut Pehlivan, Tamar Harel, Shalini N Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Ozge Ozalp Yuregir,[...]. Genet Med 2018
47
17

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A Fasel, Ekaterina Batourina, Matthew G Sampson,[...]. Nat Genet 2019
43
18

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Justyna A Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C Mefford, Jennifer N Dines, Katie Golden-Grant,[...]. Am J Hum Genet 2019
35
22

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
231
7

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi,[...]. Nat Genet 2008
385
7

ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease.
Madeline Hayes, Xiaochong Gao, Lisa X Yu, Nandina Paria, R Mark Henkelman, Carol A Wise, Brian Ciruna. Nat Commun 2014
65
10

Genetic aspects of congenital and idiopathic scoliosis.
Philip F Giampietro. Scientifica (Cairo) 2012
23
30

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
256
7

Non-coding genetic variants in human disease.
Feng Zhang, James R Lupski. Hum Mol Genet 2015
202
7

Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae.
Amaka Offiah, Benjamin Alman, Alberto S Cornier, Philip F Giampietro, Olivier Tassy, Angie Wade, Peter D Turnpenny. Am J Med Genet A 2010
29
24

Abnormal vertebral segmentation and the notch signaling pathway in man.
Peter D Turnpenny, Ben Alman, Alberto S Cornier, Philip F Giampietro, Amaka Offiah, Olivier Tassy, Olivier Pourquié, Kenro Kusumi, Sally Dunwoodie. Dev Dyn 2007
89
7

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
7

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
7


A missense T (Brachyury) mutation contributes to vertebral malformations.
Nader Ghebranious, Robert D Blank, Cathleen L Raggio, Justin Staubli, Elizabeth McPherson, Lynn Ivacic, Kristen Rasmussen, F Stig Jacobsen, Thomas Faciszewski, James K Burmester,[...]. J Bone Miner Res 2008
38
18

Abnormalities associated with congenital scoliosis: a retrospective study of 226 Chinese surgical cases.
Jianxiong Shen, Zijia Wang, Jiaming Liu, Xuhong Xue, Guixing Qiu. Spine (Phila Pa 1976) 2013
56
12

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Jiaqi Liu, Yangzhong Zhou, Sen Liu, Xiaofei Song, Xin-Zhuang Yang, Yanhui Fan, Weisheng Chen, Zeynep Coban Akdemir, Zihui Yan, Yuzhi Zuo,[...]. Hum Genet 2018
18
38

Tbx6, a mouse T-Box gene implicated in paraxial mesoderm formation at gastrulation.
D L Chapman, I Agulnik, S Hancock, L M Silver, V E Papaioannou. Dev Biol 1996
212
7

Insights into genetics, human biology and disease gleaned from family based genomic studies.
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,[...]. Genet Med 2019
56
12


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.