A citation-based method for searching scientific literature

Sarah T South, Charles Lee, Allen N Lamb, Anne W Higgins, Hutton M Kearney. Genet Med 2013
Times Cited: 161







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



Times Cited
  Times     Co-cited
Similarity


Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.
Swati Gupta, Somayyeh Fahiminiya, Tracy Wang, Laura Dempsey Nunez, David S Rosenblatt, William T Gibson, Brian Gilfix, John J M Bergeron, Loydie A Jerome-Majewska. Cold Spring Harb Mol Case Stud 2016
11
9

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Eva Morava, Ron A Wevers, Vincent Cantagrel, Lies H Hoefsloot, Lihadh Al-Gazali, Jeroen Schoots, Arno van Rooij, Karin Huijben, Connie M A van Ravenswaaij-Arts, Marjolein C J Jongmans,[...]. Brain 2010
65
1

Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome.
Lorella Paparo, Giovanni Battista Rossi, Paolo Delrio, Daniela Rega, Francesca Duraturo, Raffaella Liccardo, Mario Debellis, Paola Izzo, Marina De Rosa. Hered Cancer Clin Pract 2013
16
6

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.
Sharri Cyrus, Deepika Burkardt, David D Weaver, William T Gibson. Am J Med Genet C Semin Med Genet 2019
13
7

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Shuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, Gundula Povysil, Marie T McDonald, Sheila Unger, Susanne Greber-Platzer, Kristen L Deak, Nicholas Katsanis, Andrea Superti-Furga,[...]. Hum Mutat 2020
4
25

Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.
O Ortega-Recalde, O I Beltrán, J M Gálvez, A Palma-Montero, C M Restrepo, H E Mateus, P Laissue. Clin Genet 2015
18
5

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Valérie Malan, Diana Rajan, Sophie Thomas, Adam C Shaw, Hélène Louis Dit Picard, Valérie Layet, Marianne Till, Arie van Haeringen, Geert Mortier, Sheela Nampoothiri,[...]. Am J Hum Genet 2010
87
1

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.
Benjamin Kamien, Anne Ronan, Gemma Poke, Ingrid Sinnerbrink, Gareth Baynam, Michelle Ward, William T Gibson, Tracy Dudding-Byth, Rodney J Scott. Mol Syndromol 2018
21
4

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
1

Clinical and molecular overlap in overgrowth syndromes.
Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Munnich, Christine Gicquel, Laurence Colleaux, Valérie Cormier-Daire. Am J Med Genet C Semin Med Genet 2005
35
2

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.
A Morrone, H Morreau, X Y Zhou, E Zammarchi, W J Kleijer, H Galjaard, A d'Azzo. Hum Mutat 1994
15
6

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Aurélien Juven, Sophie Nambot, Amélie Piton, Nolwenn Jean-Marçais, Alice Masurel, Patrick Callier, Nathalie Marle, Anne-Laure Mosca-Boidron, Paul Kuentz, Christophe Philippe,[...]. Eur J Hum Genet 2020
2
50

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature.
William L Macken, Marc Tischkowitz, Katherine L Lachlan. Am J Med Genet C Semin Med Genet 2019
11
9

Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.
Fernanda T Bellucco, Claudia B de Mello, Vera A Meloni, Maria Isabel Melaragno. Mol Genet Genomic Med 2019
2
50

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Gunnar Houge, Dorien Haesen, Lisenka E L M Vissers, Sarju Mehta, Michael J Parker, Michael Wright, Julie Vogt, Shane McKee, John L Tolmie, Nuno Cordeiro,[...]. J Clin Invest 2015
45
2

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, H E Shamseldin, N Patel, M Hashem, N Ibrahim, F Abdulwahab,[...]. Mol Psychiatry 2017
105
1

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
Kim M Keppler-Noreuil, Victoria E R Parker, Thomas N Darling, Julian A Martinez-Agosto. Am J Med Genet C Semin Med Genet 2016
102
1

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Jean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, Margaret Beddaoui, Diana Alcantara, Robert L Conway, Judith St-Onge, Jeremy A Schwartzentruber, Karen W Gripp, Sarah M Nikkel,[...]. Nat Genet 2012
418
1

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman. J Med Genet 2017
39
2

Further delineation of Malan syndrome.
Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S Alkuraya, Pedro Arias, Laura Bernardini,[...]. Hum Mutat 2018
17
5


SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
Pauline Marzin, Sophie Rondeau, Kimberly A Aldinger, Jean-Luc Alessandri, Bertrand Isidor, Delphine Heron, Boris Keren, William B Dobyns, Valérie Cormier-Daire. Am J Med Genet C Semin Med Genet 2019
8
12

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Katrina Tatton-Brown, Chey Loveday, Shawn Yost, Matthew Clarke, Emma Ramsay, Anna Zachariou, Anna Elliott, Harriet Wylie, Anna Ardissone, Olaf Rittinger,[...]. Am J Hum Genet 2017
78
1

Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Philip J Ostrowski, Anna Zachariou, Chey Loveday, Diana Baralle, Edward Blair, Sofia Douzgou, Michael Field, Alison Foster, Claire Kyle, Katherine Lachlan,[...]. Am J Med Genet C Semin Med Genet 2019
2
50

Approach to overgrowth syndromes in the genome era.
Deepika D Burkardt, Katrina Tatton-Brown, William Dobyns, John M Graham. Am J Med Genet C Semin Med Genet 2019
4
25

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
382
1

Mapping and characterization of structural variation in 17,795 human genomes.
Haley J Abel, David E Larson, Allison A Regier, Colby Chiang, Indraniel Das, Krishna L Kanchi, Ryan M Layer, Benjamin M Neale, William J Salerno, Catherine Reeves,[...]. Nature 2020
27
3


Long-Read Sequencing Emerging in Medical Genetics.
Tuomo Mantere, Simone Kersten, Alexander Hoischen. Front Genet 2019
93
1

Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathies.
Zhiying Xie, Chengyue Sun, Siwen Zhang, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Anushree Acharya, Diana M Cornejo-Sanchez, Gao Wang,[...]. Ann Clin Transl Neurol 2020
2
50

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening.
Nathalie Brison, Jazz Storms, Darine Villela, Kristl G Claeys, Luc Dehaspe, Thomy de Ravel, Liesbeth De Waele, Nathalie Goemans, Eric Legius, Hilde Peeters,[...]. Genet Med 2019
5
20

Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Mark J P Chaisson, Ashley D Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J Gardner, Oscar L Rodriguez, Li Guo, Ryan L Collins,[...]. Nat Commun 2019
213
1

The Dystrophin Complex: Structure, Function, and Implications for Therapy.
Quan Q Gao, Elizabeth M McNally. Compr Physiol 2015
107
1

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
203
1


Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
Pauline Chaste, Stephan J Sanders, Kommu N Mohan, Lambertus Klei, Youeun Song, Michael T Murtha, Vanessa Hus, Jennifer K Lowe, A Jeremy Willsey, Daniel Moreno-De-Luca,[...]. Autism Res 2014
44
2

Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result.
Laia Rodriguez-Revenga, Irene Madrigal, Antoni Borrell, Josep M Martinez, Joan Sabria, Lourdes Martin, Wladimiro Jimenez, Aurea Mira, Celia Badenas, Montserrat Milà. Clin Genet 2020
2
50

Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis.
Hagit Hochner, Hagit Daum, Liza Douiev, Naama Zvi, Ayala Frumkin, Michal Macarov, Adva Kimchi-Shaal, Nuphar Hacohen, Avital Eilat, Duha Faham,[...]. Obstet Gynecol 2020
6
16


Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.
Jane L Halliday, Cecile Muller, Taryn Charles, Fiona Norris, Joanne Kennedy, Sharon Lewis, Bettina Meiser, Susan Donath, Zornitza Stark, George McGillivray,[...]. Eur J Hum Genet 2018
11
9

Uptake of noninvasive prenatal testing at a large academic referral center.
Sebastian Larion, Steven L Warsof, Letty Romary, Margaret Mlynarczyk, David Peleg, Alfred Z Abuhamad. Am J Obstet Gynecol 2014
61
1

Role of late amniocentesis in the era of modern genomic technologies.
H Daum, A Ben David, M Nadjari, S Zenvirt, S Helman, N Yanai, V Meiner, S Yagel, A Frumkin, S Shkedi Rafid. Ultrasound Obstet Gynecol 2019
7
14


15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Clémence Vanlerberghe, Florence Petit, Valérie Malan, Catherine Vincent-Delorme, Sonia Bouquillon, Odile Boute, Muriel Holder-Espinasse, Bruno Delobel, Bénédicte Duban, Louis Vallee,[...]. Eur J Med Genet 2015
49
2

First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS).
N J Wald, C Rodeck, A K Hackshaw, J Walters, L Chitty, A M Mackinson. Health Technol Assess 2003
170
1

Fetal soft markers in obstetric ultrasound.
Michiel C Van den Hof, R Douglas Wilson. J Obstet Gynaecol Can 2005
69
1

Chromosomal microarray analysis for pregnancies with abnormal maternal serum screening who undergo invasive prenatal testing.
Xiaoqing Wu, Ying Li, Na Lin, Xiaorui Xie, Linjuan Su, Meiying Cai, Yuan Lin, Linshuo Wang, Meiying Wang, Liangpu Xu,[...]. J Cell Mol Med 2021
1
100

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing.
S L van der Steen, K E M Diderich, S R Riedijk, J Verhagen-Visser, L C P Govaerts, M Joosten, M F C M Knapen, D Van Opstal, M I Srebniak, A Tibben,[...]. Clin Genet 2015
32
3

X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.
Min Zhang, Hailong Huang, Na Lin, Shuqiong He, Gang An, Yan Wang, Meihuan Chen, Lingji Chen, Yuan Lin, Liangpu Xu. J Clin Lab Anal 2020
3
33

Pandora's pregnancy: NIPT, CMA, and genome sequencing-A new era for prenatal genetic testing.
Yael Hashiloni-Dolev, Tamar Nov-Klaiman, Aviad Raz. Prenat Diagn 2019
10
10


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.