A citation-based method for searching scientific literature

Damien Lederer, Bernard Grisart, Maria Cristina Digilio, Valérie Benoit, Marianne Crespin, Sophie Claire Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen-Dumoulin. Am J Hum Genet 2012
Times Cited: 229







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



Times Cited
  Times     Co-cited
Similarity


Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Sarah B Ng, Abigail W Bigham, Kati J Buckingham, Mark C Hannibal, Margaret J McMillin, Heidi I Gildersleeve, Anita E Beck, Holly K Tabor, Gregory M Cooper, Heather C Mefford,[...]. Nat Genet 2010
872
72



Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Nina Bögershausen, Vincent Gatinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Simsek-Kiper, Mouna Barat-Houari, Nursel H Elcioglu, Dagmar Wieczorek,[...]. Hum Mutat 2016
84
42

KDM6A point mutations cause Kabuki syndrome.
Noriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, Hirofumi Ohashi, Masaaki Shiina, Kazuhiro Ogata, Yoshinori Tsurusaki, Mitsuko Nakashima, Hirotomo Saitsu, Norio Niikawa,[...]. Hum Mutat 2013
125
31

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
N Niikawa, Y Kuroki, T Kajii, N Matsuura, S Ishikiriyama, H Tonoki, N Ishikawa, Y Yamada, M Fujita, H Umemoto. Am J Med Genet 1988
305
28

MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki,[...]. Am J Med Genet A 2013
104
27

Kabuki syndrome: international consensus diagnostic criteria.
Margaret P Adam, Siddharth Banka, Hans T Bjornsson, Olaf Bodamer, Albert E Chudley, Jaqueline Harris, Hiroshi Kawame, Brendan C Lanpher, Andrew W Lindsley, Giuseppe Merla,[...]. J Med Genet 2019
68
38

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael J Parker, Yanick J Crow, Bronwyn Kerr, Helen Kingston,[...]. Eur J Hum Genet 2012
105
25

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
S Banka, D Lederer, V Benoit, E Jenkins, E Howard, S Bunstone, B Kerr, S McKee, I C Lloyd, D Shears,[...]. Clin Genet 2015
76
32

Unmasking Kabuki syndrome.
N Bögershausen, B Wollnik. Clin Genet 2013
92
26

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Peter M Van Laarhoven, Leif R Neitzel, Anita M Quintana, Elizabeth A Geiger, Elaine H Zackai, David E Clouthier, Kristin B Artinger, Jeffrey E Ming, Tamim H Shaikh. Hum Mol Genet 2015
96
22

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Mark C Hannibal, Kati J Buckingham, Sarah B Ng, Jeffrey E Ming, Anita E Beck, Margaret J McMillin, Heidi I Gildersleeve, Abigail W Bigham, Holly K Tabor, Heather C Mefford,[...]. Am J Med Genet A 2011
119
22

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Carmela Fusco, Pasquelena De Nittis, Maria Teresa Pellico, Barbara Mandriani, Rita Fischetto,[...]. Hum Mutat 2014
64
26

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
P Makrythanasis, B W van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, B M Anderlid, P Arts, M Bhat, B Augello,[...]. Clin Genet 2013
60
28

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome.
Hans T Bjornsson, Joel S Benjamin, Li Zhang, Jacqueline Weissman, Elizabeth E Gerber, Yi-Chun Chen, Rebecca G Vaurio, Michelle C Potter, Kasper D Hansen, Harry C Dietz. Sci Transl Med 2014
100
16

A mutation screen in patients with Kabuki syndrome.
Yun Li, Nina Bögershausen, Yasemin Alanay, Pelin Ozlem Simsek Kiper, Nadine Plume, Katharina Keupp, Esther Pohl, Barbara Pawlik, Martin Rachwalski, Esther Milz,[...]. Hum Genet 2011
84
19

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
16

Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Maria Lisa Dentici, Alessandra Di Pede, Francesca Romana Lepri, Maria Gnazzo, Mary Haywood Lombardi, Cinzia Auriti, Stefano Petrocchi, Elisa Pisaneschi, Emanuele Bellacchio, Rossella Capolino,[...]. Arch Dis Child 2015
52
28

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
Andrew W Lindsley, Howard M Saal, Thomas A Burrow, Robert J Hopkin, Oleg Shchelochkov, Pooja Khandelwal, Changchun Xie, Jack Bleesing, Lisa Filipovich, Kimberly Risma,[...]. J Allergy Clin Immunol 2016
45
31

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria N Loviglio, Margherita Cirillo Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester V D'Addetta,[...]. Orphanet J Rare Dis 2011
70
18

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
Nina Bögershausen, I-Chun Tsai, Esther Pohl, Pelin Özlem Simsek Kiper, Filippo Beleggia, E Ferda Percin, Katharina Keupp, Angela Matchan, Esther Milz, Yasemin Alanay,[...]. J Clin Invest 2015
48
27

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Aimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric E J G L Smeets, Annemieke Wagemans, Jaap J P Schrander, Marie-José H van den Boogaard,[...]. Hum Mutat 2011
99
13

De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Wendy D Jones, Dimitra Dafou, Meriel McEntagart, Wesley J Woollard, Frances V Elmslie, Muriel Holder-Espinasse, Melita Irving, Anand K Saggar, Sarah Smithson, Richard C Trembath,[...]. Am J Hum Genet 2012
157
12

Kabuki make-up syndrome: a review.
Naomichi Matsumoto, Norio Niikawa. Am J Med Genet C Semin Med Genet 2003
136
11

UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development.
Karl Agger, Paul A C Cloos, Jesper Christensen, Diego Pasini, Simon Rose, Juri Rappsilber, Irina Issaeva, Eli Canaani, Anna Elisabetta Salcini, Kristian Helin. Nature 2007
917
11

Kabuki syndrome: clinical and molecular characteristics.
Chong-Kun Cheon, Jung Min Ko. Korean J Pediatr 2015
39
28

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Darci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, Michelle T Siu, Michal Inbar-Feigenberg, Roberto Mendoza-Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu,[...]. Am J Hum Genet 2017
98
11

Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases.
Sunhwa Hong, Young-Wook Cho, Li-Rong Yu, Hong Yu, Timothy D Veenstra, Kai Ge. Proc Natl Acad Sci U S A 2007
443
11

H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation.
Ji-Eun Lee, Chaochen Wang, Shiliyang Xu, Young-Wook Cho, Lifeng Wang, Xuesong Feng, Anne Baldridge, Vittorio Sartorelli, Lenan Zhuang, Weiqun Peng,[...]. Elife 2013
273
11

Kabuki syndrome: a review.
M P Adam, L Hudgins. Clin Genet 2005
115
11

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Lisenka E L M Vissers, Conny M A van Ravenswaaij, Ronald Admiraal, Jane A Hurst, Bert B A de Vries, Irene M Janssen, Walter A van der Vliet, Erik H L P G Huys, Pieter J de Jong, Ben C J Hamel,[...]. Nat Genet 2004
785
10

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
Damien Lederer, Debbie Shears, Valérie Benoit, Christine Verellen-Dumoulin, Isabelle Maystadt. Am J Med Genet A 2014
29
34

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Víctor Faundes, William G Newman, Laura Bernardini, Natalie Canham, Jill Clayton-Smith, Bruno Dallapiccola, Sally J Davies, Michelle K Demos, Amy Goldman, Harinder Gill,[...]. Am J Hum Genet 2018
101
10

The MLL3/MLL4 branches of the COMPASS family function as major histone H3K4 monomethylases at enhancers.
Deqing Hu, Xin Gao, Marc A Morgan, Hans-Martin Herz, Edwin R Smith, Ali Shilatifard. Mol Cell Biol 2013
235
10

Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Dario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis, Jiyuan Zhang, Barbara Mandriani, Natascia Malerba, Gabriella M Squeo, Alessandro Romano, Barbara Piccinni, Tiziano Verri,[...]. Hum Mol Genet 2018
31
32

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
Chong Kun Cheon, Young Bae Sohn, Jung Min Ko, Yeoun Joo Lee, Ji Sun Song, Jea Woo Moon, Bo Kyoung Yang, Il Soo Ha, Eun Jung Bae, Hyun-Seok Jin,[...]. J Hum Genet 2014
33
27

KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation.
Siang-Yun Ang, Alec Uebersohn, C Ian Spencer, Yu Huang, Ji-Eun Lee, Kai Ge, Benoit G Bruneau. Development 2016
68
13

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Pu Yang, Hu Tan, Yan Xia, Qian Yu, Xianda Wei, Ruolan Guo, Ying Peng, Chen Chen, Haoxian Li, Libin Mei,[...]. Am J Med Genet A 2016
13
69

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
S Banka, E Howard, S Bunstone, K E Chandler, B Kerr, K Lachlan, S McKee, S G Mehta, A L T Tavares, J Tolmie,[...]. Clin Genet 2013
36
25

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
Tjitske Kleefstra, Han G Brunner, Jeanne Amiel, Astrid R Oudakker, Willy M Nillesen, Alex Magee, David Geneviève, Valérie Cormier-Daire, Hilde van Esch, Jean-Pierre Fryns,[...]. Am J Hum Genet 2006
249
9

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
Shuang Liu, Xiafei Hong, Cheng Shen, Quan Shi, Jian Wang, Feng Xiong, Zhengqing Qiu. BMC Med Genet 2015
24
37

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
N Lehman, A C Mazery, A Visier, C Baumann, D Lachesnais, Y Capri, A Toutain, S Odent, M Mikaty, C Goizet,[...]. Clin Genet 2017
20
45

UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome.
Karl B Shpargel, Joshua Starmer, Chaochen Wang, Kai Ge, Terry Magnuson. Proc Natl Acad Sci U S A 2017
37
24

A UTX-MLL4-p300 Transcriptional Regulatory Network Coordinately Shapes Active Enhancer Landscapes for Eliciting Transcription.
Shu-Ping Wang, Zhanyun Tang, Chun-Wei Chen, Miho Shimada, Richard P Koche, Lan-Hsin Wang, Tomoyoshi Nakadai, Alan Chramiec, Andrei V Krivtsov, Scott A Armstrong,[...]. Mol Cell 2017
95
9

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
Erfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Rebecca L Hood, Dennis E Bulman, Kristin D Kernohan,[...]. Am J Hum Genet 2018
75
12


CHD7 cooperates with PBAF to control multipotent neural crest formation.
Ruchi Bajpai, Denise A Chen, Alvaro Rada-Iglesias, Junmei Zhang, Yiqin Xiong, Jill Helms, Ching-Pin Chang, Yingming Zhao, Tomek Swigut, Joanna Wysocka. Nature 2010
388
8


PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.
Young-Wook Cho, Teresa Hong, Sunhwa Hong, Hong Guo, Hong Yu, Doyeob Kim, Tad Guszczynski, Gregory R Dressler, Terry D Copeland, Markus Kalkum,[...]. J Biol Chem 2007
390
8


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.