A citation-based method for searching scientific literature

Marisa Silva, Nicole de Leeuw, Kathy Mann, Heleen Schuring-Blom, Sian Morgan, Daniela Giardino, Katrina Rack, Ros Hastings. Eur J Hum Genet 2019
Times Cited: 26







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



Times Cited
  Times     Co-cited
Similarity


American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
504
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
15

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
15

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Agatino Battaglia, Viola Doccini, Laura Bernardini, Antonio Novelli, Sara Loddo, Anna Capalbo, Tiziana Filippi, John C Carey. Eur J Paediatr Neurol 2013
113
11

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
Stefano D'Arrigo, Francesco Gavazzi, Enrico Alfei, Orsetta Zuffardi, Cristina Montomoli, Barbara Corso, Erika Buzzi, Francesca L Sciacca, Sara Bulgheroni, Daria Riva,[...]. J Child Neurol 2016
22
13


Chromosomal microarray versus karyotyping for prenatal diagnosis.
Ronald J Wapner, Christa Lese Martin, Brynn Levy, Blake C Ballif, Christine M Eng, Julia M Zachary, Melissa Savage, Lawrence D Platt, Daniel Saltzman, William A Grobman,[...]. N Engl J Med 2012
630
11

A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
794
11

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
117
11

Primer3--new capabilities and interfaces.
Andreas Untergasser, Ioana Cutcutache, Triinu Koressaar, Jian Ye, Brant C Faircloth, Maido Remm, Steven G Rozen. Nucleic Acids Res 2012
7

ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey Hoover,[...]. Nucleic Acids Res 2016
7

Estimates of penetrance for recurrent pathogenic copy-number variations.
Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
181
7


Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.
Isabel Marques Carreira, Susana Isabel Ferreira, Eunice Matoso, Luís Miguel Pires, José Ferrão, Ana Jardim, Alexandra Mascarenhas, Marta Pinto, Nuno Lavoura, Cláudia Pais,[...]. Mol Cytogenet 2015
12
16


Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
125
7

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G Mulle, Stephen T Warren,[...]. Genet Med 2011
281
7

Diagnostic implications of genetic copy number variation in epilepsy plus.
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik-Glaska, Berten Ceulemans, J Helen Cross,[...]. Epilepsia 2019
26
7

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Magdalena Bartnik, Beata Nowakowska, Katarzyna Derwińska, Barbara Wiśniowiecka-Kowalnik, Marta Kędzior, Joanna Bernaciak, Kamila Ziemkiewicz, Tomasz Gambin, Maciej Sykulski, Natalia Bezniakow,[...]. J Appl Genet 2014
30
7

Copy number variation in human health, disease, and evolution.
Feng Zhang, Wenli Gu, Matthew E Hurles, James R Lupski. Annu Rev Genomics Hum Genet 2009
683
7

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
7

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis,[...]. Sci Transl Med 2012
360
7

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Laurel K Willig, Josh E Petrikin, Laurie D Smith, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Sarah E Soden, Julie A Cakici, Suzanne M Herd, Greyson Twist,[...]. Lancet Respir Med 2015
166
7

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.
Jin Sook Lee, Hee Hwang, Soo Yeon Kim, Ki Joong Kim, Jin Sun Choi, Mi Jung Woo, Young Min Choi, Jong Kwan Jun, Byung Chan Lim, Jong Hee Chae. Ann Lab Med 2018
14
14

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
137
7

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Jennelle C Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M Seabra, Mary-Alice Abbott,[...]. Nat Genet 2017
121
7

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
Beata A Nowakowska, Nicole de Leeuw, Claudia Al Ruivenkamp, Birgit Sikkema-Raddatz, John A Crolla, Reinhilde Thoelen, Marije Koopmans, Nicolette den Hollander, Arie van Haeringen, Anne-Marie van der Kevie-Kersemaekers,[...]. Eur J Hum Genet 2012
52
7


Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies.
Lena Sagi-Dain, Lital Cohen Vig, Sarit Kahana, Shiri Yacobson, Tamar Tenne, Ifat Agmon-Fishman, Cochava Klein, Reut Matar, Lina Basel-Salmon, Idit Maya. Genet Med 2019
30
7

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Agnieszka Bierzynska, Hugh J McCarthy, Katrina Soderquest, Ethan S Sen, Elizabeth Colby, Wen Y Ding, Marwa M Nabhan, Larissa Kerecuk, Shivram Hegde, David Hughes,[...]. Kidney Int 2017
91
3

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel,[...]. BMC Nephrol 2018
17
5

Genotype-phenotype associations in WT1 glomerulopathy.
Beata S Lipska, Bruno Ranchin, Paraskevas Iatropoulos, Jutta Gellermann, Anette Melk, Fatih Ozaltin, Gianluca Caridi, Tomas Seeman, Kalman Tory, Augustina Jankauskiene,[...]. Kidney Int 2014
56
3

GATA3 haplo-insufficiency causes human HDR syndrome.
H Van Esch, P Groenen, M A Nesbit, S Schuffenhauer, P Lichtner, G Vanderlinden, B Harding, R Beetz, R W Bilous, I Holdaway,[...]. Nature 2000
342
3

Focal Segmental Glomerulosclerosis.
Avi Z Rosenberg, Jeffrey B Kopp. Clin J Am Soc Nephrol 2017
138
3

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.
Gemma Bullich, Andrea Domingo-Gallego, Iván Vargas, Patricia Ruiz, Laura Lorente-Grandoso, Mónica Furlano, Gloria Fraga, Álvaro Madrid, Gema Ariceta, Mar Borregán,[...]. Kidney Int 2018
33
3

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg,[...]. Genet Med 2017
70
3

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Christine Gast, Reuben J Pengelly, Matthew Lyon, David J Bunyan, Eleanor G Seaby, Nikki Graham, Gopalakrishnan Venkat-Raman, Sarah Ennis. Nephrol Dial Transplant 2016
96
3

Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.
Hadley Stevens Smith, J Michael Swint, Seema R Lalani, Jose-Miguel Yamal, Marcia C de Oliveira Otto, Stephan Castellanos, Amy Taylor, Brendan H Lee, Heidi V Russell. Genet Med 2019
31
3

Atypical aHUS: State of the art.
Carla M Nester, Thomas Barbour, Santiago Rodriquez de Cordoba, Marie Agnes Dragon-Durey, Veronique Fremeaux-Bacchi, Tim H J Goodship, David Kavanagh, Marina Noris, Matthew Pickering, Pilar Sanchez-Corral,[...]. Mol Immunol 2015
136
3

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Monica Marini, Renata Bocciardi, Stefania Gimelli, Marco Di Duca, Maria T Divizia, Anwar Baban, Harald Gaspar, Isabella Mammi, Livia Garavelli, Roberto Cerone,[...]. Genet Med 2010
14
7

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
Kálmán Tory, Dóra K Menyhárd, Stéphanie Woerner, Fabien Nevo, Olivier Gribouval, Andrea Kerti, Pál Stráner, Christelle Arrondel, Evelyne Huynh Cong, Tivadar Tulassay,[...]. Nat Genet 2014
81
3

FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.
Claude Bendavid, Robert Kleta, Robert Long, Maia Ouspenskaia, Maximilian Muenke, Bassem R Haddad, William A Gahl. Hum Genet 2004
13
7

Branchio-oto-renal syndrome.
Amit Kochhar, Stephanie M Fischer, William J Kimberling, Richard J H Smith. Am J Med Genet A 2007
74
3

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Magdalena Koczkowska, Jolanta Wierzba, Robert Śmigiel, Maria Sąsiadek, Magdalena Cabała, Ryszard Ślężak, Mariola Iliszko, Iwona Kardaś, Janusz Limon, Beata S Lipska-Ziętkiewicz. J Appl Genet 2017
10
10

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
Bernward G Hinkes, Bettina Mucha, Christopher N Vlangos, Rasheed Gbadegesin, Jinhong Liu, Katrin Hasselbacher, Daniela Hangan, Fatih Ozaltin, Martin Zenker, Friedhelm Hildebrandt. Pediatrics 2007
254
3

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.
Gil Chernin, Virginia Vega-Warner, Dominik S Schoeb, Saskia F Heeringa, Bugsu Ovunc, Pawaree Saisawat, Roxana Cleper, Fatih Ozaltin, Friedhelm Hildebrandt. Clin J Am Soc Nephrol 2010
63
3

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Judy Savige, Francesca Ariani, Francesca Mari, Mirella Bruttini, Alessandra Renieri, Oliver Gross, Constantinos Deltas, Frances Flinter, Jie Ding, Daniel P Gale,[...]. Pediatr Nephrol 2019
40
3

Evidence of digenic inheritance in Alport syndrome.
Maria Antonietta Mencarelli, Laurence Heidet, Helen Storey, Michel van Geel, Bertrand Knebelmann, Chiara Fallerini, Nunzia Miglietti, Maria Fatima Antonucci, Francesco Cetta, John A Sayer,[...]. J Med Genet 2015
71
3

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
3

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Murim Choi, Ute I Scholl, Weizhen Ji, Tiewen Liu, Irina R Tikhonova, Paul Zumbo, Ahmet Nayir, Ayşin Bakkaloğlu, Seza Ozen, Sami Sanjad,[...]. Proc Natl Acad Sci U S A 2009
823
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.