A citation-based method for searching scientific literature

Eirini Kostopoulou, Antonia Dastamani, Silvana Caiulo, Hannah Antell, Sarah E Flanagan, Pratik Shah. Clin Endocrinol (Oxf) 2019
Times Cited: 5







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



Times Cited
  Times     Co-cited
Similarity


Hyperinsulinism in developmental syndromes.
Ritika R Kapoor, Chela James, Khalid Hussain. Endocr Dev 2009
30
40

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Ritika R Kapoor, Sarah E Flanagan, Ved Bhushan Arya, Julian P Shield, Sian Ellard, Khalid Hussain. Eur J Endocrinol 2013
121
40

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.
Christopher E Gibson, Kara E Boodhansingh, Changhong Li, Laura Conlin, Pan Chen, Susan A Becker, Tricia Bhatti, Vaneeta Bamba, N Scott Adzick, Diva D De Leon,[...]. Horm Res Paediatr 2018
10
40

Proteomics. Tissue-based map of the human proteome.
Mathias Uhlén, Linn Fagerberg, Björn M Hallström, Cecilia Lindskog, Per Oksvold, Adil Mardinoglu, Åsa Sivertsson, Caroline Kampf, Evelina Sjöstedt, Anna Asplund,[...]. Science 2015
20

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
Thomas W Laver, Matthew N Wakeling, Janet Hong Yeow Hua, Jayne A L Houghton, Khalid Hussain, Sian Ellard, Sarah E Flanagan. Clin Endocrinol (Oxf) 2018
4
25

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
H Mandel, R Szargel, V Labay, O Elpeleg, A Saada, A Shalata, Y Anbinder, D Berkowitz, C Hartman, M Barak,[...]. Nat Genet 2001
399
20

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Frédéric Brioude, Jennifer M Kalish, Alessandro Mussa, Alison C Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E Boonen, Trevor Cole, Robert Baker, Monica Bertoletti,[...]. Nat Rev Endocrinol 2018
156
20

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
Ewa Pronicka, Anna Węglewska-Jurkiewicz, Joanna Taybert, Maciej Pronicki, Tamara Szymańska-Dębińska, Agnieszka Karkucińska-Więckowska, Joanna Jakóbkiewicz-Banecka, Paweł Kowalski, Dorota Piekutowska-Abramczuk, Magdalena Pajdowska,[...]. J Appl Genet 2011
31
20


Beckwith's syndrome with extreme organ hyperplasia.
T F Roe, A K Kershnar, J J Weitzman, L S Madrigal. Pediatrics 1973
40
20

Hyperinsulinaemic hypoglycaemia.
V B Arya, Z Mohammed, O Blankenstein, P De Lonlay, K Hussain. Horm Metab Res 2014
24
20

Long-term follow up of persistent hyperinsulinaemic hypoglycaemia of infancy.
J C Cresto, J P Abdenur, I Bergada, R Martino. Arch Dis Child 1998
31
20

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Nancy E Braverman, Gerald V Raymond, William B Rizzo, Ann B Moser, Mark E Wilkinson, Edwin M Stone, Steven J Steinberg, Michael F Wangler, Eric T Rush, Joseph G Hacia,[...]. Mol Genet Metab 2016
96
20

Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.
Kevin Berendse, Maxim Boek, Marion Gijbels, Nicole N Van der Wel, Femke C Klouwer, Marius A van den Bergh-Weerman, Abhijit Babaji Shinde, Rob Ofman, Bwee Tien Poll-The, Sander M Houten,[...]. Biochim Biophys Acta Mol Basis Dis 2019
5
20

Biochemistry of mammalian peroxisomes revisited.
Ronald J A Wanders, Hans R Waterham. Annu Rev Biochem 2006
598
20


High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.
Kevin Berendse, Marc Engelen, Gabor E Linthorst, A S Paul van Trotsenburg, Bwee Tien Poll-The. Orphanet J Rare Dis 2014
22
20

A mild phenotype associated with der(9)t(3;9) (p25;p23).
R J McClure, N Telford, S J Newell. J Med Genet 1996
5
20


Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children.
Paul S Thornton, Charles A Stanley, Diva D De Leon, Deborah Harris, Morey W Haymond, Khalid Hussain, Lynne L Levitsky, Mohammad H Murad, Paul J Rozance, Rebecca A Simmons,[...]. J Pediatr 2015
188
20

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
920
20


Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.
Michela Barbaro, Antonio Balsamo, Britt Marie Anderlid, Anne Grethe Myhre, Monia Gennari, Annalisa Nicoletti, Maria Carla Pittalis, Mikael Oscarson, Anna Wedell. Eur J Hum Genet 2009
57
20

Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome.
O Alfi, G N Donnell, B F Crandall, A Derencsenyi, R Menon. Ann Genet 1973
105
20


Improved splice site detection in Genie.
M G Reese, F H Eeckman, D Kulp, D Haussler. J Comput Biol 1997
20

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
20

Genetics of neonatal hyperinsulinism.
B Glaser, P Thornton, T Otonkoski, C Junien. Arch Dis Child Fetal Neonatal Ed 2000
119
20

Neonatal hyperinsulinemic hypoglycemia in a patient with 9p deletion syndrome.
Allan Bayat, Maria Kirchhoff, Camilla Gøbel Madsen, Sven Kreiborg. Eur J Med Genet 2018
1
100


Further refinement of the candidate region for monosomy 9p syndrome.
Brigitte H W Faas, Nicole de Leeuw, Hanneke Mieloo, Jos Bruinenberg, Bert B A de Vries. Am J Med Genet A 2007
27
20

GATA4 mutations are a cause of neonatal and childhood-onset diabetes.
Charles Shaw-Smith, Elisa De Franco, Hana Lango Allen, Marta Batlle, Sarah E Flanagan, Maciej Borowiec, Craig E Taplin, Janiëlle van Alfen-van der Velden, Jaime Cruz-Rojo, Guiomar Perez de Nanclares,[...]. Diabetes 2014
61
20


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
20

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.
Laura Eng, Gabriela Coutinho, Shareef Nahas, Gene Yeo, Robert Tanouye, Mahnoush Babaei, Thilo Dörk, Christopher Burge, Richard A Gatti. Hum Mutat 2004
103
20

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
20

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.
Mariëlle E M Swinkels, Annet Simons, Dominique F Smeets, Lisenka E Vissers, Joris A Veltman, Rolph Pfundt, Bert B A de Vries, Brigitte H W Faas, Connie T R M Schrander-Stumpel, Emma McCann,[...]. Am J Med Genet A 2008
71
20

Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.
I Banerjee, B Avatapalle, R Padidela, A Stevens, K E Cosgrove, P E Clayton, M J Dunne. Clin Endocrinol (Oxf) 2013
34
20

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.
Klára Roženková, Maria Güemes, Pratik Shah, Khalid Hussain. J Clin Res Pediatr Endocrinol 2015
33
20

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Katheryn Grand, Christina Gonzalez-Gandolfi, Amanda M Ackermann, Deema Aljeaid, Emma Bedoukian, Lynne M Bird, Diva D De Leon, Jullianne Diaz, Robert J Hopkin, Sejal P Kadakia,[...]. Am J Med Genet A 2019
3
33

A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.
Yoshie Nakamura, Masaki Takagi, Hiroshi Yoshihashi, Masaru Miura, Satoshi Narumi, Tomonobu Hasegawa, Yoshishige Miyake, Yukihiro Hasegawa. Am J Med Genet A 2015
8
20

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
98
20

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.
Jennifer M Kalish, Kara E Boodhansingh, Tricia R Bhatti, Arupa Ganguly, Laura K Conlin, Susan A Becker, Stephanie Givler, Lindsey Mighion, Andrew A Palladino, N Scott Adzick,[...]. J Med Genet 2016
38
20

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.
Elizabeth A Calton, I Karen Temple, Deborah J G Mackay, Margaret Lever, Sian Ellard, Sarah E Flanagan, Justin H Davies, Khalid Hussain, Juliet C Gray. Eur J Med Genet 2013
11
20

Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemia.
Haya Alkhayyat, Henrik B T Christesen, James Steer, Helen Stewart, Klaus Brusgaard, Khalid Hussain. J Pediatr Endocrinol Metab 2006
18
20

Congenital hyperinsulinism: current trends in diagnosis and therapy.
Jean-Baptiste Arnoux, Virginie Verkarre, Cécile Saint-Martin, Françoise Montravers, Anaïs Brassier, Vassili Valayannopoulos, Francis Brunelle, Jean-Christophe Fournet, Jean-Jacques Robert, Yves Aigrain,[...]. Orphanet J Rare Dis 2011
147
20

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Katrina Tatton-Brown, Jenny Douglas, Kim Coleman, Genevieve Baujat, Trevor R P Cole, Soma Das, Denise Horn, Helen E Hughes, I Karen Temple, Francesca Faravelli,[...]. Am J Hum Genet 2005
189
20

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.
Sonya Galcheva, Hüseyin Demirbilek, Sara Al-Khawaga, Khalid Hussain. Front Endocrinol (Lausanne) 2019
30
20

Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes.
Angham N Al Mutair, Klaus Brusgaard, Bassam Bin-Abbas, Khalid Hussain, Naila Felimban, Adnan Al Shaikh, Henrik T Christesen. Diabetes Care 2013
11
20

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects.
Abdulla Ibrahim, Gail Kirby, Carol Hardy, Renuka P Dias, Louise Tee, Derek Lim, Jonathan Berg, Fiona MacDonald, Peter Nightingale, Eamonn R Maher. Clin Epigenetics 2014
68
20


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.