A citation-based method for searching scientific literature

Jan P Schouten, Cathal J McElgunn, Raymond Waaijer, Danny Zwijnenburg, Filip Diepvens, Gerard Pals. Nucleic Acids Res 2002
Times Cited: 1827







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



Times Cited
  Times     Co-cited
Similarity


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

DNA sequencing with chain-terminating inhibitors.
F Sanger, S Nicklen, A R Coulson. Proc Natl Acad Sci U S A 1977
8

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.
Anders O H Nygren, Najim Ameziane, Helena M B Duarte, Raymon N C P Vijzelaar, Quinten Waisfisz, Corine J Hess, Jan P Schouten, Abdellatif Errami. Nucleic Acids Res 2005
277
8


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
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
4


Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Sylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel-Calemard, Marie-Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau,[...]. Hum Mutat 2009
204
4

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort.
Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Manjunath Mahadevappa, Deepha Sekar, Meera Purushottam, Priya Treesa Thomas, Saraswathi Nashi, Atchayaram Nalini. J Clin Neurol 2017
23
17

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.
Jennifer Kerkhof, Laila C Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref-Eshghi, Alan Stuart, C Anthony Rupar, Paul Adams, Robert A Hegele, Hanxin Lin,[...]. J Mol Diagn 2017
66
6

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification.
D J Bunyan, D M Eccles, J Sillibourne, E Wilkins, N Simon Thomas, J Shea-Simonds, P J Duncan, C E Curtis, D O Robinson, J F Harvey,[...]. Br J Cancer 2004
148
4

A simple salting out procedure for extracting DNA from human nucleated cells.
S A Miller, D D Dykes, H F Polesky. Nucleic Acids Res 1988
4

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Catherine L Bladen, David Salgado, Soledad Monges, Maria E Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Anna J Roy, Teodora Chamova,[...]. Hum Mutat 2015
277
4


The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
4

Exome sequencing identifies the cause of a mendelian disorder.
Sarah B Ng, Kati J Buckingham, Choli Lee, Abigail W Bigham, Holly K Tabor, Karin M Dent, Chad D Huff, Paul T Shannon, Ethylin Wang Jabs, Deborah A Nickerson,[...]. Nat Genet 2010
3

Sequencing technologies - the next generation.
Michael L Metzker. Nat Rev Genet 2010
3


Dystrophin and mutations: one gene, several proteins, multiple phenotypes.
Francesco Muntoni, Silvia Torelli, Alessandra Ferlini. Lancet Neurol 2003
573
3

The importance of genetic diagnosis for Duchenne muscular dystrophy.
Annemieke Aartsma-Rus, Ieke B Ginjaar, Kate Bushby. J Med Genet 2016
122
3

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
3

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Mariko Okubo, Kanako Goto, Hirofumi Komaki, Harumasa Nakamura, Madoka Mori-Yoshimura, Yukiko K Hayashi, Satomi Mitsuhashi, Satoru Noguchi, En Kimura, Ichizo Nishino. Orphanet J Rare Dis 2017
19
15

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
A P Monaco, C J Bertelson, S Liechti-Gallati, H Moser, L M Kunkel. Genomics 1988
901
3

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
M Koenig, A H Beggs, M Moyer, S Scherpf, K Heindrich, T Bettecken, G Meng, C R Müller, M Lindlöf, H Kaariainen,[...]. Am J Hum Genet 1989
799
3

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.
Annemieke Aartsma-Rus, Judith C T Van Deutekom, Ivo F Fokkema, Gert-Jan B Van Ommen, Johan T Den Dunnen. Muscle Nerve 2006
383
3

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
A H Beggs, M Koenig, F M Boyce, L M Kunkel. Hum Genet 1990
616
3

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Kevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, Payam Soltanzadeh, Eduard Gappmaier, Michael T Howard, Jacinda B Sampson, Jerry R Mendell, Cheryl Wall, Wendy M King,[...]. Hum Mutat 2009
184
3

SIFT web server: predicting effects of amino acid substitutions on proteins.
Ngak-Leng Sim, Prateek Kumar, Jing Hu, Steven Henikoff, Georg Schneider, Pauline C Ng. Nucleic Acids Res 2012
962
3

High frequency of nonclassical steroid 21-hydroxylase deficiency.
P W Speiser, B Dupont, P Rubinstein, A Piazza, A Kastelan, M I New. Am J Hum Genet 1985
458
3

Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.
B Carvalho, M Pereira, C J Marques, D Carvalho, M Leão, J P Oliveira, A Barros, F Carvalho. Exp Clin Endocrinol Diabetes 2012
5
60

Congenital adrenal hyperplasia.
Phyllis W Speiser, Perrin C White. N Engl J Med 2003
525
3

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.
Daniel F de Carvalho, Mirela C Miranda, Larissa G Gomes, Guiomar Madureira, José A M Marcondes, Ana Elisa C Billerbeck, Andresa S Rodrigues, Paula F Presti, Hilton Kuperman, Durval Damiani,[...]. Eur J Endocrinol 2016
29
10



High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.
Lourdes Loidi, Celsa Quinteiro, Silvia Parajes, Jesús Barreiro, Domingo G Lestón, José M Cabezas-Agrícola, Aurelio M Sueiro, David Araujo-Vilar, Lidia Catro-Feijóo, Javier Costas,[...]. Clin Endocrinol (Oxf) 2006
39
7


ClinVar: public archive of relationships among sequence variation and human phenotype.
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
3


Rucaparib maintenance treatment for recurrent ovarian carcinoma after response to platinum therapy (ARIEL3): a randomised, double-blind, placebo-controlled, phase 3 trial.
Robert L Coleman, Amit M Oza, Domenica Lorusso, Carol Aghajanian, Ana Oaknin, Andrew Dean, Nicoletta Colombo, Johanne I Weberpals, Andrew Clamp, Giovanni Scambia,[...]. Lancet 2017
588
3

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
3

Genome structural variation discovery and genotyping.
Can Alkan, Bradley P Coe, Evan E Eichler. Nat Rev Genet 2011
743
3

Human Gene Mutation Database (HGMD): 2003 update.
Peter D Stenson, Edward V Ball, Matthew Mort, Andrew D Phillips, Jacqueline A Shiel, Nick S T Thomas, Shaun Abeysinghe, Michael Krawczak, David N Cooper. Hum Mutat 2003
3

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Laure Frésard, Craig Smail, Nicole M Ferraro, Nicole A Teran, Xin Li, Kevin S Smith, Devon Bonner, Kristin D Kernohan, Shruti Marwaha, Zachary Zappala,[...]. Nat Med 2019
71
4

New applications and developments in the use of multiplex ligation-dependent probe amplification.
Piotr Kozlowski, Anna J Jasinska, David J Kwiatkowski. Electrophoresis 2008
62
4

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
3

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
965
3


Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
Zaïda Koeks, Catherine L Bladen, David Salgado, Erik van Zwet, Oksana Pogoryelova, Grace McMacken, Soledad Monges, Maria E Foncuberta, Kyriaki Kekou, Konstantina Kosma,[...]. J Neuromuscul Dis 2017
56
5

Digital Multiplex Ligation-Dependent Probe Amplification for Detection of Key Copy Number Alterations in T- and B-Cell Lymphoblastic Leukemia.
Anne Benard-Slagter, Ilse Zondervan, Karel de Groot, Farzaneh Ghazavi, Virinder Sarhadi, Pieter Van Vlierberghe, Barbara De Moerloose, Claire Schwab, Kim Vettenranta, Christine J Harrison,[...]. J Mol Diagn 2017
14
21

Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.
Liborio Stuppia, Ivana Antonucci, Giandomenico Palka, Valentina Gatta. Int J Mol Sci 2012
102
3


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.