A citation-based method for searching scientific literature

Justyna A Karolak, Tomasz Gambin, Engela M Honey, Tomas Slavik, Edwina Popek, Paweł Stankiewicz. BMC Med Genomics 2020
Times Cited: 4







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



Times Cited
  Times     Co-cited
Similarity


Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Justyna A Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C Mefford, Jennifer N Dines, Katie Golden-Grant,[...]. Am J Hum Genet 2019
36
75

Neonatal Lung Disease Associated with TBX4 Mutations.
Kristen Suhrie, Nathan M Pajor, Shawn K Ahlfeld, D Brian Dawson, Kevin R Dufendach, Joseph A Kitzmiller, Daniel Leino, Rachel C Lombardo, Teresa A Smolarek, Pamela A Rathbun,[...]. J Pediatr 2019
22
50

Multiple roles and interactions of Tbx4 and Tbx5 in development of the respiratory system.
Ripla Arora, Ross J Metzger, Virginia E Papaioannou. PLoS Genet 2012
100
50

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.
Jingyi Mi, Padmini Parthasarathy, Benjamin J Halliday, Tim Morgan, John Dean, Malgorzata J M Nowaczyk, David Markie, Stephen P Robertson, Emma M Wade. Genes (Basel) 2020
2
50

Bones, Glands, Ears and More: The Multiple Roles of FGF10 in Craniofacial Development.
Michaela Prochazkova, Jan Prochazka, Pauline Marangoni, Ophir D Klein. Front Genet 2018
8
25

Prenatal diagnosis of primary pulmonary hypoplasia in fraternal twins.
S Chen, P C Ursell, I Adatia, A A Hislop, P Giannikopoulos, L K Hornberger. Ultrasound Obstet Gynecol 2010
7
25

FGF10 is an inducer and Pax6 a competence factor for lacrimal gland development.
H P Makarenkova, M Ito, V Govindarajan, S C Faber, L Sun, G McMahon, P A Overbeek, R A Lang. Development 2000
133
25

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
25

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.
Miriam Entesarian, Hans Matsson, Joakim Klar, Birgitta Bergendal, Lena Olson, Rieko Arakaki, Yoshio Hayashi, Hideyo Ohuchi, Babak Falahat, Anne Isine Bolstad,[...]. Nat Genet 2005
109
25

Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.
Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Amir Hooshang Bavarsad, Saeed Tizno. Int J Pediatr Otorhinolaryngol 2017
7
25

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Przemyslaw Szafranski, Zeynep H Coban-Akdemir, Rosemarie Rupps, Serge Grazioli, David Wensley, Shalini N Jhangiani, Edwina Popek, Anna F Lee, James R Lupski, Cornelius F Boerkoel,[...]. Am J Med Genet A 2016
29
25

Primary pulmonary hypoplasia: a case report and review of the literature.
D E Odd, M R Battin, L Hallam, D B Knight. J Paediatr Child Health 2003
8
25

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Christopher P Barnett, Nathalie J Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K Lee, Damien L Bruno, Jill Lipsett, Andrew J McPhee, Andreas W Schreiber,[...]. Hum Mutat 2016
17
25

Bilateral agenesis/aplasia of the lungs: report of a second case in the offspring of one woman.
J Podlech, J Richter, P Czygan, P J Klein, H Müntefering. Pediatr Pathol Lab Med 1995
7
25

Recurrent prenatally diagnosed isolated bilateral pulmonary agenesis.
R Ramanah, A Martin, V Guigue, F Arbez-Gindre, J Piard, P Terrosi, E Alanio, R Favre, D Gaillard, D Riethmuller. Ultrasound Obstet Gynecol 2012
4
25

Lacrimo-auricolo-dento-digital syndrome mimicking primary juvenile Sjögren's syndrome.
P A Ostuni, M Modolo, P Revelli, A Secchi, C Battista, A Tregnaghi, M L Andretta, S Todesco. Scand J Rheumatol 1995
9
25

Fibroblast growth factor 10 (FGF10) and branching morphogenesis in the embryonic mouse lung.
S Bellusci, J Grindley, H Emoto, N Itoh, B L Hogan. Development 1997
666
25

Salivary Gland Dysplasia in Fgf10 Heterozygous Mice: A New Mouse Model of Xerostomia.
A J May, L Chatzeli, G B Proctor, A S Tucker. Curr Mol Med 2015
11
25

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.
G Kirov, A J Pocklington, P Holmans, D Ivanov, M Ikeda, D Ruderfer, J Moran, K Chambert, D Toncheva, L Georgieva,[...]. Mol Psychiatry 2012
515
25


Genome-Wide Structural Variation Detection by Genome Mapping on Nanochannel Arrays.
Angel C Y Mak, Yvonne Y Y Lai, Ernest T Lam, Tsz-Piu Kwok, Alden K Y Leung, Annie Poon, Yulia Mostovoy, Alex R Hastie, William Stedman, Thomas Anantharaman,[...]. Genetics 2016
75
25

Local Inversion Heterozygosity Alters Recombination throughout the Genome.
K Nicole Crown, Danny E Miller, Jeff Sekelsky, R Scott Hawley. Curr Biol 2018
28
25

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Alisa Nakamine, Leonid Ouchanov, Patricia Jiménez, Elina R Manghi, Marcela Esquivel, Silvia Monge, Marietha Fallas, Barbara K Burton, Barbara Szomju, Sarah H Elsea,[...]. Am J Med Genet A 2008
25
25

The evolution of human segmental duplications and the core duplicon hypothesis.
T Marques-Bonet, E E Eichler. Cold Spring Harb Symp Quant Biol 2009
35
25


Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Tingwei Guo, Alexander Diacou, Hiroko Nomaru, Donna M McDonald-McGinn, Matthew Hestand, Wolfram Demaerel, Liangtian Zhang, Yingjie Zhao, Francisco Ujueta, Jidong Shan,[...]. Hum Mol Genet 2018
13
25

Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.
Pietro Palumbo, Vincenzo Antona, Orazio Palumbo, Maria Piccione, Rosaria Nardello, Antonina Fontana, Massimo Carella, Giovanni Corsello. Gene 2014
19
25

Characterization of six human disease-associated inversion polymorphisms.
Francesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, Mario Ventura, Priscillia Siswara, Zhaoshi Jiang, Evan E Eichler. Hum Mol Genet 2009
81
25

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
Giorgio Gimelli, Miguel Angel Pujana, Maria Grazia Patricelli, Silvia Russo, Daniela Giardino, Lidia Larizza, Joseph Cheung, Lluís Armengol, Albert Schinzel, Xavier Estivill,[...]. Hum Mol Genet 2003
94
25

Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.
R Das Chakraborty, A J Bernal, K Schoch, T D Howard, E H Ip, S R Hooper, M S Keshavan, R L Jirtle, V Shashi. Transl Psychiatry 2012
14
25

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Christèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, Cédric Le Caignec, Chantal Missirian, Sylvie Jaillard, Caroline Schluth-Bolard, Emilie Landais, Odile Boute, Nicole Philip,[...]. Eur J Med Genet 2011
41
25

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.
M Upadhyaya, M Ruggieri, J Maynard, M Osborn, C Hartog, S Mudd, M Penttinen, I Cordeiro, M Ponder, B A Ponder,[...]. Hum Genet 1998
124
25

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.
Jayne Y Hehir-Kwa, Benjamín Rodríguez-Santiago, Lisenka E Vissers, Nicole de Leeuw, Rolph Pfundt, Jan K Buitelaar, Luis A Pérez-Jurado, Joris A Veltman. J Med Genet 2011
75
25

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Lisanne Vervoort, Wolfram Demaerel, Laura Y Rengifo, Adrian Odrzywolski, Elfi Vergaelen, Matthew S Hestand, Jeroen Breckpot, Koen Devriendt, Ann Swillen, Donna M McDonald-McGinn,[...]. Hum Mol Genet 2019
4
25

Microdeletions of 3q29 confer high risk for schizophrenia.
Jennifer Gladys Mulle, Anne F Dodd, John A McGrath, Paula S Wolyniec, Adele A Mitchell, Amol C Shetty, Nara L Sobreira, David Valle, M Katharine Rudd, Glen Satten,[...]. Am J Hum Genet 2010
158
25

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
S E Antonarakis, J P Rossiter, M Young, J Horst, P de Moerloose, S S Sommer, R P Ketterling, H H Kazazian, C Négrier, C Vinciguerra,[...]. Blood 1995
235
25

Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.
Eva Albertsen Malt, Katalin Juhasz, Anna Frengen, Teresia Wangensteen, Nina Merete Emilsen, Borre Hansen, Oleg Agafonov, Hilde Loge Nilsen. Mol Genet Genomic Med 2019
4
25

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Marta Codina-Sola, Mar Costa-Roger, Debora Pérez-García, Raquel Flores, Maria Gabriela Palacios-Verdú, Ivon Cusco, Luis Alberto Pérez-Jurado. J Med Genet 2019
4
25

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.
A Wischmeijer, P Magini, R Giorda, M Gnoli, R Ciccone, L Cecconi, E Franzoni, L Mazzanti, G Romeo, O Zuffardi,[...]. Mol Syndromol 2011
16
25

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.
S Demczuk, A Lévy, M Aubry, M F Croquette, N Philip, M Prieur, U Sauer, P Bouvagnet, G A Rouleau, G Thomas. Hum Genet 1995
49
25

Second-generation PLINK: rising to the challenge of larger and richer datasets.
Christopher C Chang, Carson C Chow, Laurent Cam Tellier, Shashaank Vattikuti, Shaun M Purcell, James J Lee. Gigascience 2015
25

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Maria Delio, Tingwei Guo, Donna M McDonald-McGinn, Elaine Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene Coleman, Carolyn Chow, Maria Jalbrzikowski,[...]. Am J Hum Genet 2013
32
25

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Anne Rovelet-Lecrux, Didier Hannequin, Gregory Raux, Nathalie Le Meur, Annie Laquerrière, Anne Vital, Cécile Dumanchin, Sébastien Feuillette, Alexis Brice, Martine Vercelletto,[...]. Nat Genet 2006
810
25

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, Carl Baker, Laura Vives, Tiffany H Vu, Neil Shafer, Raphael Bernier, Giovanni B Ferrero, Margherita Silengo,[...]. PLoS Genet 2011
204
25

High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans.
Graham Coop, Xiaoquan Wen, Carole Ober, Jonathan K Pritchard, Molly Przeworski. Science 2008
251
25

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang,[...]. Am J Hum Genet 2014
516
25

Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
Augustine Kong, Gudmar Thorleifsson, Hreinn Stefansson, Gisli Masson, Agnar Helgason, Daniel F Gudbjartsson, Gudrun M Jonsdottir, Sigurjon A Gudjonsson, Sverrir Sverrisson, Theodora Thorlacius,[...]. Science 2008
127
25

Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Heather C Mefford, Jill A Rosenfeld, Natasha Shur, Anne M Slavotinek, Victoria A Cox, Raoul C Hennekam, Helen V Firth, Lionel Willatt, Patricia Wheeler, Eric M Morrow,[...]. J Med Genet 2012
29
25

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Stephan J Sanders, Xin He, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Kaitlin E Samocha, A Ercument Cicek, Michael T Murtha, Vanessa H Bal, Somer L Bishop, Shan Dong,[...]. Neuron 2015
601
25

Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.
Holly H Hobart, Colleen A Morris, Carolyn B Mervis, Ariel M Pani, Doris J Kistler, Cecilia M Rios, Kendra W Kimberley, Ronald G Gregg, Patricia Bray-Ward. Am J Med Genet C Semin Med Genet 2010
28
25


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.