A citation-based method for searching scientific literature

Nan Yang, Nan Wu, Ling Zhang, Yanxue Zhao, Jiaqi Liu, Xiangyu Liang, Xiaojun Ren, Weiyu Li, Weisheng Chen, Shuangshuang Dong, Sen Zhao, Jiachen Lin, Hang Xiang, Huadan Xue, Lu Chen, Hao Sun, Jianguo Zhang, Jiangang Shi, Shuyang Zhang, Daru Lu, Xiaohui Wu, Li Jin, Jiandong Ding, Guixing Qiu, Zhihong Wu, James R Lupski, Feng Zhang. Hum Mol Genet 2019
Times Cited: 26







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



Times Cited
  Times     Co-cited
Similarity


TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
145
92

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
75

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
792
30

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
30

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
67
26

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
316
26

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Weisheng Chen, Jiachen Lin, Lianlei Wang, Xiaoxin Li, Sen Zhao, Jiaqi Liu, Zeynep C Akdemir, Yanxue Zhao, Renqian Du, Yongyu Ye,[...]. Hum Mutat 2020
11
63

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
24


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
23

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).
Kun Wang, Sen Zhao, Bowen Liu, Qianqian Zhang, Yaqi Li, Jiaqi Liu, Yan Shen, Xinghuan Ding, Jiachen Lin, Yong Wu,[...]. J Med Genet 2018
28
23

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
125
19

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
19
26

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
52
19

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
19

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
317
19

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
26

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
141
19

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
19

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
15

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
251
15

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
59
15

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
36
15

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
85
15

Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression.
Yukuto Yasuhiko, Seiki Haraguchi, Satoshi Kitajima, Yu Takahashi, Jun Kanno, Yumiko Saga. Proc Natl Acad Sci U S A 2006
96
15


Congenital scoliosis: a review and update.
Daniel Hedequist, John Emans. J Pediatr Orthop 2007
81
15

Genomic rearrangements and sporadic disease.
James R Lupski. Nat Genet 2007
289
11

Segmental border is defined by Ripply2-mediated Tbx6 repression independent of Mesp2.
Wei Zhao, Rieko Ajima, Youichirou Ninomiya, Yumiko Saga. Dev Biol 2015
15
20

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
46
11

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
58
11


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
214
11

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
12

Defective somite patterning in mouse embryos with reduced levels of Tbx6.
Phillip H White, Deborah R Farkas, Erin E McFadden, Deborah L Chapman. Development 2003
79
11

22q11.2 deletion syndrome.
Donna M McDonald-McGinn, Kathleen E Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A S Vorstman, Elaine H Zackai, Beverly S Emanuel, Joris R Vermeesch, Bernice E Morrow,[...]. Nat Rev Dis Primers 2015
381
11

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Ning Liu, Kelly Schoch, Xi Luo, Loren D M Pena, Venkata Hemanjani Bhavana, Mary K Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske,[...]. Hum Mol Genet 2018
23
13

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
11

Molecular diagnostic experience of whole-exome sequencing in adult patients.
Jennifer E Posey, Jill A Rosenfeld, Regis A James, Matthew Bainbridge, Zhiyv Niu, Xia Wang, Shweta Dhar, Wojciech Wiszniewski, Zeynep H C Akdemir, Tomasz Gambin,[...]. Genet Med 2016
115
11

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
M Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, Marietta M de Guzman, Lisa R Forbes, Ivan K Chinn, Emily M Mace, Tiphanie P Vogel, Alexandre F Carisey, Felipe Benavides,[...]. Am J Hum Genet 2018
52
11

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Janson White, Juliana F Mazzeu, Alexander Hoischen, Shalini N Jhangiani, Tomasz Gambin, Michele Calijorne Alcino, Samantha Penney, Jorge M Saraiva, Hanne Hove, Flemming Skovby,[...]. Am J Hum Genet 2015
69
11

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
95
11

Clan genomics and the complex architecture of human disease.
James R Lupski, John W Belmont, Eric Boerwinkle, Richard A Gibbs. Cell 2011
222
11

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Jessica X Chong, Kati J Buckingham, Shalini N Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D Smith, Tanya M Harrell, Margaret J McMillin, Wojciech Wiszniewski, Tomasz Gambin,[...]. Am J Hum Genet 2015
344
11

Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
433
11


Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.
T Wagner, J Wirth, J Meyer, B Zabel, M Held, J Zimmer, J Pasantes, F D Bricarelli, J Keutel, E Hustert,[...]. Cell 1994
11

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
Duncan B Sparrow, David Sillence, Merridee A Wouters, Peter D Turnpenny, Sally L Dunwoodie. Eur J Hum Genet 2010
35
11

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
11

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Ender Karaca, Ozge O Yuregir, Sevcan T Bozdogan, Huseyin Aslan, Davut Pehlivan, Shalini N Jhangiani, Zeynep C Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M Atik,[...]. Am J Med Genet A 2015
29
11


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.