A citation-based method for searching scientific literature

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
J Barraza-García, C I Rivera-Pedroza, A Hisado-Oliva, A Belinchón-Martínez, L Sentchordi-Montané, E L Duncan, G R Clark, A Del Pozo, K Ibáñez-Garikano, A Offiah, P Prieto-Matos, V Cormier-Daire, K E Heath. Clin Genet 2017
Times Cited: 9






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



Times Cited
  Times     Co-cited
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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
11270
4
44

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.
Evgeny A Glazov, Andreas Zankl, Marina Donskoi, Tony J Kenna, Gethin P Thomas, Graeme R Clark, Emma L Duncan, Matthew A Brown. PLoS Genet 2011
54
4
44

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
Siham Chafai Elalaoui, Fatima Zahra Laarabi, Maria Mansouri, Nidal Alaoui Mrani, Gen Nishimura, Abdelaziz Sefiani. Am J Med Genet A 2016
6
3
50

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
Christian T Thiel, Denise Horn, Bernhard Zabel, Arif B Ekici, Kelly Salinas, Erich Gebhart, Franz Rüschendorf, Heinrich Sticht, Jürgen Spranger, Dietmar Müller,[...]. Am J Hum Genet 2005
94
3
33

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
M Ridanpää, H van Eenennaam, K Pelin, R Chadwick, C Johnson, B Yuan, W vanVenrooij, G Pruijn, R Salmela, S Rockas,[...]. Cell 2001
310
2
22

Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.
Paul A Trainor, Amy E Merrill. Biochim Biophys Acta 2014
60
2
22

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Lucía Sentchordi-Montané, Miriam Aza-Carmona, Sara Benito-Sanz, Ana C Barreda-Bonis, Consuelo Sánchez-Garre, Pablo Prieto-Matos, Pablo Ruiz-Ocaña, Alfonso Lechuga-Sancho, Atilano Carcavilla-Urquí, Inés Mulero-Collantes,[...]. Clin Endocrinol (Oxf) 2018
20
2
22

Targeted CRISPR disruption reveals a role for RNase MRP RNA in human preribosomal RNA processing.
Katherine C Goldfarb, Thomas R Cech. Genes Dev 2017
55
2
22

Of proteins and RNA: the RNase P/MRP family.
Olga Esakova, Andrey S Krasilnikov. RNA 2010
155
2
22

The POP1 gene encodes a protein component common to the RNase MRP and RNase P ribonucleoproteins.
Z Lygerou, P Mitchell, E Petfalski, B Séraphin, D Tollervey. Genes Dev 1994
193
2
22

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.
Mandy M F Steinbusch, Marjolein M J Caron, Don A M Surtel, Franziska Friedrich, Ekkehart Lausch, Ger J M Pruijn, Wouter Verhesen, Blanche L M Schroen, Lodewijk W van Rhijn, Bernhard Zabel,[...]. Sci Rep 2017
28
2
22

Structure and Function of the Mitochondrial Ribosome.
Basil J Greber, Nenad Ban. Annu Rev Biochem 2016
126
2
22

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
Alfonso Hisado-Oliva, Ana I Garre-Vázquez, Fabiola Santaolalla-Caballero, Alberta Belinchón, Ana C Barreda-Bonis, Gabriela A Vasques, Joaquin Ramirez, Cristina Luzuriaga, Gianni Carlone, Isabel González-Casado,[...]. J Clin Endocrinol Metab 2015
47
1
11

Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
Ola Nilsson, Michael H Guo, Nancy Dunbar, Jadranka Popovic, Daniel Flynn, Christina Jacobsen, Julian C Lui, Joel N Hirschhorn, Jeffrey Baron, Andrew Dauber. J Clin Endocrinol Metab 2014
76
1
11

The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases.
Beth G Gibson, Michael D Briggs. Orphanet J Rare Dis 2016
35
1
11

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
Sumito Dateki, Akiko Nakatomi, Satoshi Watanabe, Hitomi Shimizu, Yukiko Inoue, Hideo Baba, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi. J Hum Genet 2017
20
1
11

ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment.
Manouk van der Steen, Rolph Pfundt, Stephan J W H Maas, Willie M Bakker-van Waarde, Roelof J Odink, Anita C S Hokken-Koelega. J Clin Endocrinol Metab 2017
31
1
11

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Nadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, Christian Büttner, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra,[...]. Sci Rep 2017
33
1
11

A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
Eva-Lena Stattin, Fredrik Wiklund, Karin Lindblom, Patrik Onnerfjord, Björn-Anders Jonsson, Yelverton Tegner, Takako Sasaki, André Struglics, Stefan Lohmander, Niklas Dahl,[...]. Am J Hum Genet 2010
94
1
11

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
Miriam Aza-Carmona, Debbie J Shears, Patricia Yuste-Checa, Verónica Barca-Tierno, Alfonso Hisado-Oliva, Alberta Belinchón, Sara Benito-Sanz, J Ignacio Rodríguez, Jesús Argente, Angel Campos-Barros,[...]. Hum Mol Genet 2011
36
1
11

A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
Lindsay Gleghorn, Rajkumar Ramesar, Peter Beighton, Gillian Wallis. Am J Hum Genet 2005
92
1
11

Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
Jose Bernardo Quintos, Michael H Guo, Andrew Dauber. J Pediatr Endocrinol Metab 2015
34
1
11

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski, Melissa Crocker, Jessica Douglas, Nancy Dunbar, Jan Fairchild, Mariana F A Funari, Karen E Heath, Alexander A L Jorge,[...]. J Clin Endocrinol Metab 2017
59
1
11

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
Stuart W Tompson, Barry Merriman, Vincent A Funari, Maryline Fresquet, Ralph S Lachman, David L Rimoin, Stanley F Nelson, Michael D Briggs, Daniel H Cohn, Deborah Krakow. Am J Hum Genet 2009
81
1
11

Novel pathogenic ACAN variants in non-syndromic short stature patients.
Xuyun Hu, Baoheng Gui, Jiasun Su, Hongdou Li, Niu Li, Tingting Yu, Qinle Zhang, Yufei Xu, Guoqiang Li, Yulin Chen,[...]. Clin Chim Acta 2017
27
1
11

Madelung's Deformity.
Elisa J Knutsen, Charles A Goldfarb. Hand (N Y) 2014
7
1
14

Histone H3.3 is required to maintain replication fork progression after UV damage.
Alexander Frey, Tamar Listovsky, Guillaume Guilbaud, Peter Sarkies, Julian E Sale. Curr Biol 2014
38
1
11

Functional characterization of the 19q12 amplicon in grade III breast cancers.
Rachael Natrajan, Alan Mackay, Paul M Wilkerson, Maryou B Lambros, Daniel Wetterskog, Monica Arnedos, Kai-Keen Shiu, Felipe C Geyer, Anita Langerød, Bas Kreike,[...]. Breast Cancer Res 2012
49
1
11

PARP1 Links CHD2-Mediated Chromatin Expansion and H3.3 Deposition to DNA Repair by Non-homologous End-Joining.
Martijn S Luijsterburg, Inge de Krijger, Wouter W Wiegant, Rashmi G Shah, Godelieve Smeenk, Anton J L de Groot, Alex Pines, Alfred C O Vertegaal, Jacqueline J L Jacobs, Girish M Shah,[...]. Mol Cell 2016
152
1
11

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
Jeremy Schwartzentruber, Andrey Korshunov, Xiao-Yang Liu, David T W Jones, Elke Pfaff, Karine Jacob, Dominik Sturm, Adam M Fontebasso, Dong-Anh Khuong Quang, Martje Tönjes,[...]. Nature 2012
1509
1
11

Functional Classification and Experimental Dissection of Long Noncoding RNAs.
Florian Kopp, Joshua T Mendell. Cell 2018
1474
1
11

H3.3/H2A.Z double variant-containing nucleosomes mark 'nucleosome-free regions' of active promoters and other regulatory regions.
Chunyuan Jin, Chongzhi Zang, Gang Wei, Kairong Cui, Weiqun Peng, Keji Zhao, Gary Felsenfeld. Nat Genet 2009
540
1
11

The replication-independent histone H3-H4 chaperones HIR, ASF1, and RTT106 co-operate to maintain promoter fidelity.
Andrea C Silva, Xiaomeng Xu, Hyun-Soo Kim, Jeffrey Fillingham, Thomas Kislinger, Thomas A Mennella, Michael-Christopher Keogh. J Biol Chem 2012
42
1
11

tRNA processing defects induce replication stress and Chk2-dependent disruption of piRNA transcription.
Anahi Molla-Herman, Ana Maria Vallés, Carine Ganem-Elbaz, Christophe Antoniewski, Jean-René Huynh. EMBO J 2015
39
1
11

The RAG1 V(D)J recombinase/ubiquitin ligase promotes ubiquitylation of acetylated, phosphorylated histone 3.3.
Jessica M Jones, Anamika Bhattacharyya, Carrie Simkus, Brice Vallieres, Timothy D Veenstra, Ming Zhou. Immunol Lett 2011
30
1
11

Dynamic distribution of the replacement histone variant H3.3 in the mouse oocyte and preimplantation embryos.
Maria-Elena Torres-Padilla, Andrew J Bannister, Paul J Hurd, Tony Kouzarides, Magdalena Zernicka-Goetz. Int J Dev Biol 2006
183
1
11

Histone H3G34R mutation causes replication stress, homologous recombination defects and genomic instability in S. pombe.
Rajesh K Yadav, Carolyn M Jablonowski, Alfonso G Fernandez, Brandon R Lowe, Ryan A Henry, David Finkelstein, Kevin J Barnum, Alison L Pidoux, Yin-Ming Kuo, Jie Huang,[...]. Elife 2017
17
1
11

Giant cell tumor of bone arising in long bones possibly originates from the metaphyseal region.
Naohisa Futamura, Hiroshi Urakawa, Satoshi Tsukushi, Eisuke Arai, Eiji Kozawa, Naoki Ishiguro, Yoshihiro Nishida. Oncol Lett 2016
13
1
11

Chromatin- and transcription-related factors repress transcription from within coding regions throughout the Saccharomyces cerevisiae genome.
Vanessa Cheung, Gordon Chua, Nizar N Batada, Christian R Landry, Stephen W Michnick, Timothy R Hughes, Fred Winston. PLoS Biol 2008
208
1
11

Sp100A promotes chromatin decondensation at a cytomegalovirus-promoter-regulated transcription site.
Alyshia Newhart, Dmitri G Negorev, Ilona U Rafalska-Metcalf, Tian Yang, Gerd G Maul, Susan M Janicki. Mol Biol Cell 2013
21
1
11

Roles of RNase P and Its Subunits.
Nayef Jarrous. Trends Genet 2017
33
1
11

Recurrent and functional regulatory mutations in breast cancer.
Esther Rheinbay, Prasanna Parasuraman, Jonna Grimsby, Grace Tiao, Jesse M Engreitz, Jaegil Kim, Michael S Lawrence, Amaro Taylor-Weiner, Sergio Rodriguez-Cuevas, Mara Rosenberg,[...]. Nature 2017
168
1
11

The histone variant H3.3 G34W substitution in giant cell tumor of the bone link chromatin and RNA processing.
Jinyeong Lim, Joo Hyun Park, Annika Baude, Yeongran Yoo, Yeon Kyu Lee, Christopher R Schmidt, Jong Bae Park, Jörg Fellenberg, Josef Zustin, Florian Haller,[...]. Sci Rep 2017
28
1
11

UpSETing chromatin during non-coding RNA production.
Swaminathan Venkatesh, Jerry L Workman, Michaela Smolle. Epigenetics Chromatin 2013
7
1
14

Erratum: Modulation of mRNA and lncRNA expression dynamics by the Set2-Rpd3S pathway.
Ji Hyun Kim, Bo Bae Lee, Young Mi Oh, Chenchen Zhu, Lars M Steinmetz, Yookyeong Lee, Wan Kyu Kim, Sung Bae Lee, Stephen Buratowski, TaeSoo Kim. Nat Commun 2017
3
1
33

Chromosome-wide nucleosome replacement and H3.3 incorporation during mammalian meiotic sex chromosome inactivation.
Godfried W van der Heijden, Alwin A H A Derijck, Eszter Pósfai, Maud Giele, Pawel Pelczar, Liliana Ramos, Derick G Wansink, Johan van der Vlag, Antoine H F M Peters, Peter de Boer. Nat Genet 2007
162
1
11

The histone methyltransferases Trithorax and Ash1 prevent transcriptional silencing by Polycomb group proteins.
Tetyana Klymenko, Jürg Müller. EMBO Rep 2004
193
1
11

Wnt activated β-catenin and YAP proteins enhance the expression of non-coding RNA component of RNase MRP in colon cancer cells.
Jinjoo Park, Sunjoo Jeong. Oncotarget 2015
36
1
11

Human RNase P ribonucleoprotein is required for formation of initiation complexes of RNA polymerase III.
Raphael Serruya, Natalie Orlovetskie, Robert Reiner, Yana Dehtiar-Zilber, Donna Wesolowski, Sidney Altman, Nayef Jarrous. Nucleic Acids Res 2015
19
1
11

The death-associated protein DAXX is a novel histone chaperone involved in the replication-independent deposition of H3.3.
Pascal Drané, Khalid Ouararhni, Arnaud Depaux, Muhammad Shuaib, Ali Hamiche. Genes Dev 2010
438
1
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.

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