A citation-based method for searching scientific literature

Kate Wolfe, Andrew McQuillin, Viola Alesi, Elise Boudry Labis, Peter Cutajar, Bruno Dallapiccola, Maria Lisa Dentici, Anne Dieux-Coeslier, Benedicte Duban-Bedu, Tina Duelund Hjortshøj, Himanshu Goel, Sara Loddo, Deborah Morrogh, Anne-Laure Mosca-Boidron, Antonio Novelli, Laurence Olivier-Faivre, Jennifer Parker, Michael J Parker, Christine Patch, Anna L Pelling, Thomas Smol, Zeynep Tümer, Olivier Vanakker, Arie van Haeringen, Clémence Vanlerberghe, Andre Strydom, David Skuse, Nick Bass. Am J Med Genet B Neuropsychiatr Genet 2018
Times Cited: 6







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



Times Cited
  Times     Co-cited
Similarity


Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto,[...]. Nat Genet 2017
398
66

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
Kacie N Riley, Lisa M Catalano, John A Bernat, Stacie D Adams, Donna M Martin, Seema R Lalani, Ankita Patel, Rachel D Burnside, Jeffrey W Innis, M Katharine Rudd. Am J Med Genet A 2015
23
50

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.
H E Yu, K Hawash, J Picker, J Stoler, D Urion, B-L Wu, Y Shen. Clin Genet 2012
27
50

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
803
50

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Gregory Costain, Anath C Lionel, Daniele Merico, Pamela Forsythe, Kathryn Russell, Chelsea Lowther, Tracy Yuen, Janice Husted, Dimitri J Stavropoulos, Marsha Speevak,[...]. Hum Mol Genet 2013
83
50

Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.
Veerle De Wolf, Nathalie Brison, Koenraad Devriendt, Hilde Peeters. Am J Med Genet A 2013
41
33

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
Hung-Chun Yu, Curtis R Coughlin, Elizabeth A Geiger, Blake J Salvador, Ellen R Elias, Jean L Cavanaugh, Kathryn C Chatfield, Shelley D Miyamoto, Tamim H Shaikh. Cold Spring Harb Mol Case Stud 2016
7
33

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.
M Katharine Rudd, Julia Keene, Brian Bunke, Erin B Kaminsky, Margaret P Adam, Jennifer G Mulle, David H Ledbetter, Christa L Martin. Hum Mol Genet 2009
45
33

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
Eva Hladilkova, Tuva Barøy, Madeleine Fannemel, Vladimira Vallova, Doriana Misceo, Vesna Bryn, Iva Slamova, Sarka Prasilova, Petr Kuglik, Eirik Frengen. Mol Cytogenet 2015
12
33

Adult neuropsychiatric expression and familial segregation of 2q13 duplications.
Gregory Costain, Anath C Lionel, Fiona Fu, Dimitri J Stavropoulos, Matthew J Gazzellone, Christian R Marshall, Stephen W Scherer, Anne S Bassett. Am J Med Genet B Neuropsychiatr Genet 2014
17
33

Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia.
Elliott Rees, Kimberley Kendall, Antonio F Pardiñas, Sophie E Legge, Andrew Pocklington, Valentina Escott-Price, James H MacCabe, David A Collier, Peter Holmans, Michael C O'Donovan,[...]. JAMA Psychiatry 2016
53
33

New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.
Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, Gwenaelle Diene, Audrey Cartault, Dorothée Cailley, Julie Bouron, Jérôme Toutain, Georges Bourrouillou, Adeline Vigouroux,[...]. Am J Med Genet A 2014
34
33


Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?
Anne-Marie Bisgaard, Maria Kirchhoff, Jens Erik Nielsen, Carsten Brandt, Hanne Hove, Birgit Jepsen, Tim Jensen, Reinhard Ullmann, Flemming Skovby. Eur J Med Genet 2007
35
33

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.
Mark W Russell, Maide O Raeker, Sarah B Geisler, Peedikayil E Thomas, Tracy A Simmons, John A Bernat, Thor Thorsson, Jeffrey W Innis. Hum Mol Genet 2014
21
33

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino,[...]. N Engl J Med 2012
353
33

Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects.
Kimberley M Kendall, Elliott Rees, Valentina Escott-Price, Mark Einon, Rhys Thomas, Jonathan Hewitt, Michael C O'Donovan, Michael J Owen, James T R Walters, George Kirov. Biol Psychiatry 2017
74
33

A framework for the investigation of rare genetic disorders in neuropsychiatry.
Stephan J Sanders, Mustafa Sahin, Joseph Hostyk, Audrey Thurm, Sebastien Jacquemont, Paul Avillach, Elise Douard, Christa L Martin, Meera E Modi, Andres Moreno-De-Luca,[...]. Nat Med 2019
28
33

Plasma fatty acid profiles in autism: a case-control study.
M M Wiest, J B German, D J Harvey, S M Watkins, I Hertz-Picciotto. Prostaglandins Leukot Essent Fatty Acids 2009
65
16


A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
411
16

Cathepsin D and apoptosis related proteins are elevated in the brain of autistic subjects.
A M Sheikh, X Li, G Wen, Z Tauqeer, W T Brown, M Malik. Neuroscience 2010
50
16

Reliability and validity of the PAS-ADD Checklist for detecting psychiatric disorders in adults with intellectual disability.
S Moss, H Prosser, H Costello, N Simpson, P Patel, S Rowe, S Turner, C Hatton. J Intellect Disabil Res 1998
170
16

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Kate Wolfe, André Strydom, Deborah Morrogh, Jennifer Carter, Peter Cutajar, Mo Eyeoyibo, Angela Hassiotis, Jane McCarthy, Raja Mukherjee, Dimitrios Paschos,[...]. Eur J Hum Genet 2016
20
16

The Human Phenotype Ontology in 2017.
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, Erin Foster, Julie McMurry, Ségolène Aymé, Gareth Baynam, Susan M Bello, Cornelius F Boerkoel, Kym M Boycott,[...]. Nucleic Acids Res 2017
385
16

ontologyX: a suite of R packages for working with ontological data.
Daniel Greene, Sylvia Richardson, Ernest Turro. Bioinformatics 2017
23
16


The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: part II: reliability and validity.
J Rojahn, E W Rowe, A C Sharber, R Hastings, J L Matson, R Didden, D B H Kroes, E L M Dumont. J Intellect Disabil Res 2012
48
16

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
184
16


Evaluation of SHOX copy number variations in patients with Müllerian aplasia.
Maria Sandbacka, Mervi Halttunen, Varpu Jokimaa, Kristiina Aittomäki, Hannele Laivuori. Orphanet J Rare Dis 2011
13
16

Congenital hypothyroid female pax8-deficient mice are infertile despite thyroid hormone replacement therapy.
Jens Mittag, Elke Winterhager, Karl Bauer, Ruth Grümmer. Endocrinology 2007
76
16

PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors.
A Poleev, H Fickenscher, S Mundlos, A Winterpacht, B Zabel, A Fidler, P Gruss, D Plachov. Development 1992
198
16

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women.
Carola Cheroki, Ana Cristina Krepischi-Santos, Carla Rosenberg, Fernanda Sarquis Jehee, Regina Célia Mingroni-Netto, Ivo Pavanello Filho, Sebastião Zanforlin Filho, Chong Ae Kim, Vicente R Bagnoli, Berenice B Mendonça,[...]. Am J Med Genet A 2006
48
16

Nephric lineage specification by Pax2 and Pax8.
Maxime Bouchard, Abdallah Souabni, Markus Mandler, Annette Neubüser, Meinrad Busslinger. Genes Dev 2002
332
16




A role for PAX8 in the tumorigenic phenotype of ovarian cancer cells.
Tina Di Palma, Valeria Lucci, Tiziana de Cristofaro, Maria Grazia Filippone, Mariastella Zannini. BMC Cancer 2014
26
16

A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.
Ana Carvalho, Pia Hermanns, Ana-Luísa Rodrigues, Isabel Sousa, João Anselmo, Hennie Bikker, Rita Cabral, Carlos Pereira-Duarte, Luísa Mota-Vieira, Joachim Pohlenz. Thyroid 2013
25
16

Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland.
D Plachov, K Chowdhury, C Walther, D Simon, J L Guenet, P Gruss. Development 1990
379
16

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.
Cristina Gervasini, Francesca Romana Grati, Faustina Lalatta, Silvia Tabano, Barbara Gentilin, Patrizia Colapietro, Simona De Toffol, Giada Frontino, Francesca Motta, Silvia Maitz,[...]. Genet Med 2010
48
16

RNA-Seq Analysis of IL-1B and IL-36 Responses in Epidermal Keratinocytes Identifies a Shared MyD88-Dependent Gene Signature.
William R Swindell, Maria A Beamer, Mrinal K Sarkar, Shannon Loftus, Joseph Fullmer, Xianying Xing, Nicole L Ward, Lam C Tsoi, Michelle J Kahlenberg, Yun Liang,[...]. Front Immunol 2018
37
16

Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome.
Juan José Gorgojo, Francisca Almodóvar, Elena López, Sergio Donnay. Fertil Steril 2002
33
16

High incidence of SHOX anomalies in individuals with short stature.
C Huber, M Rosilio, A Munnich, V Cormier-Daire. J Med Genet 2006
98
16

Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect.
Wakako Jo, Katsura Ishizu, Kenji Fujieda, Toshihiro Tajima. J Thyroid Res 2010
22
16


Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome.
Susanne Ledig, Cordula Schippert, Reiner Strick, Matthias W Beckmann, Patricia G Oppelt, Peter Wieacker. Fertil Steril 2011
84
16

Getting your Pax straight: Pax proteins in development and disease.
Neil Chi, Jonathan A Epstein. Trends Genet 2002
338
16

Genomic imbalances associated with mullerian aplasia.
C Cheroki, A C V Krepischi-Santos, K Szuhai, V Brenner, C A E Kim, P A Otto, C Rosenberg. J Med Genet 2008
87
16


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.