A citation-based method for searching scientific literature

Ahmad Abou Tayoun, Heather Mason-Suares. Hum Genet 2020
Times Cited: 6







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



Times Cited
  Times     Co-cited
Similarity


Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K Best, Georgina K Carey,[...]. Lancet 2019
166
66


Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S Chitty. Genet Med 2018
59
33


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
33

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
664
33



Fetal gene therapy for neurodegenerative disease of infants.
Giulia Massaro, Citra N Z Mattar, Andrew M S Wong, Ernestas Sirka, Suzanne M K Buckley, Bronwen R Herbert, Stefan Karlsson, Dany P Perocheau, Derek Burke, Simon Heales,[...]. Nat Med 2018
72
33


Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Suzanne Drury, Hywel Williams, Natalie Trump, Christopher Boustred, Nicholas Lench, Richard H Scott, Lyn S Chitty. Prenat Diagn 2015
114
33

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
134
33

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Jinglan Zhang, Jianli Li, Jennifer B Saucier, Yanming Feng, Yanjun Jiang, Jefferson Sinson, Anne K McCombs, Eric S Schmitt, Sandra Peacock, Stella Chen,[...]. Nat Med 2019
79
33

Promises, pitfalls and practicalities of prenatal whole exome sequencing.
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van der Veyver, Ronald Wapner, Lyn S Chitty. Prenat Diagn 2018
133
33


Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?).
Marie-Laure Moutard, Virginie Kieffer, Josué Feingold, Fanny Lewin, Jean-Michel Baron, Catherine Adamsbaum, Antoinette Gélot, Arnaud Isapof, François Kieffer, Thierry Billette de Villemeur. Prenat Diagn 2012
53
16


Radiological findings in developmental delay.
G B Schaefer, J B Bodensteiner. Semin Pediatr Neurol 1998
23
16

Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies.
Maddalena Santirocco, Carlota Rodó, Tamara Illescas, Élida Vázquez, Marta Garrido, Teresa Higueras, Silvia Arévalo, Nerea Maiz, Elena Carreras. J Matern Fetal Neonatal Med 2021
4
25

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.
Maria Francesca Bedeschi, Maria Clara Bonaglia, Rita Grasso, Alda Pellegri, Rosaria Rita Garghentino, Maria Amalia Battaglia, Anna Maria Panarisi, Maja Di Rocco, Umberto Balottin, Nereo Bresolin,[...]. Pediatr Neurol 2006
92
16

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.
Vincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, Emeline Peyric, Marie-Pierre Cordier, Pascal Gaucherand, Jérôme Massardier, Mona Massoud, Aurore Curie, Anne-Sophie Pellot,[...]. Eur J Paediatr Neurol 2018
22
16


Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
Chayim Can Schell-Apacik, Kristina Wagner, Moritz Bihler, Birgit Ertl-Wagner, Uwe Heinrich, Eva Klopocki, Vera M Kalscheuer, Maximilian Muenke, Hubertus von Voss. Am J Med Genet A 2008
94
16

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
Solveig Heide, Boris Keren, Thierry Billette de Villemeur, Sandra Chantot-Bastaraud, Christel Depienne, Caroline Nava, Cyril Mignot, Aurélia Jacquette, Eric Fonteneau, Elodie Lejeune,[...]. J Pediatr 2017
14
16


Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.
Timothy J Edwards, Elliott H Sherr, A James Barkovich, Linda J Richards. Brain 2014
163
16

From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
Maayke A de Koning, Monique C Haak, Phebe N Adama van Scheltema, Cacha M P C D Peeters-Scholte, Tamara T Koopmann, Esther A R Nibbeling, Emmelien Aten, Nicolette S den Hollander, Claudia A L Ruivenkamp, Mariëtte J V Hoffer,[...]. Genet Med 2019
18
16

Agenesis of the corpus callosum in California 1983-2003: a population-based study.
Hannah C Glass, Gary M Shaw, Chen Ma, Elliott H Sherr. Am J Med Genet A 2008
123
16

The significance of the placental genome and methylome in fetal and maternal health.
Giulia F Del Gobbo, Chaini Konwar, Wendy P Robinson. Hum Genet 2020
6
16




CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.
Thomas A Burrow, Ying Sun, Carlos E Prada, Laurie Bailey, Wujuan Zhang, Amanda Brewer, Steve W Wu, Kenneth D R Setchell, David Witte, Mitchell B Cohen,[...]. Mol Genet Metab 2015
40
16

Bronchoalveolar lavage fluid in an infant with perinatal lethal Gaucher disease.
Hiroyuki Adachi, Atsuko Noguchi, Shozo Ota, Tsutomu Takahashi, Hiroshi Nanjo. Pediatr Int 2017
2
50

Revised recommendations for the management of Gaucher disease in children.
Paige Kaplan, Hagit Baris, Linda De Meirleir, Maja Di Rocco, Amal El-Beshlawy, Martina Huemer, Ana Maria Martins, Ioana Nascu, Marianne Rohrbach, Lynne Steinbach,[...]. Eur J Pediatr 2013
42
16

Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia.
Ekta Bhutada, Timothy Pyragius, Scott G Petersen, Frans Niemann, Admire Matsika. Case Rep Pathol 2018
4
25

Inherited clinical disorders of lipid metabolism.
Peter M Elias, Mary L Williams, Debra Crumrine, Matthias Schmuth. Curr Probl Dermatol 2010
10
16

Vitrectomy for vitreous opacities and macular pucker in Gaucher disease.
Emilio Rapizzi, Lorenzo Vannozzi, Vanni Borgioli, Fabrizio Giansanti, Vittoria Murro, Andrea Sodi, Ugo Menchini. Eur J Ophthalmol 2011
3
33

Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
Fatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, Özlem Hergüner, Serdar Ceylaner, Ferda Özkınay, Sebile Kılavuz, Neslihan Önenli-Mungan. Metab Brain Dis 2018
2
50

Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
Aegean Chan, Walter M Holleran, Tajh Ferguson, Debra Crumrine, Ozlem Goker-Alpan, Raphael Schiffmann, Nahid Tayebi, Edward I Ginns, Peter M Elias, Ellen Sidransky. Mol Genet Metab 2011
18
16

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.
Nahid Tayebi, Barbara K Stubblefield, Joseph K Park, Eduard Orvisky, Jamie M Walker, Mary E LaMarca, Ellen Sidransky. Am J Hum Genet 2003
76
16

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
A Abrahamov, D Elstein, V Gross-Tsur, B Farber, Y Glaser, I Hadas-Halpern, S Ronen, M Tafakjdi, M Horowitz, A Zimran. Lancet 1995
151
16

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.
Gustavo H B Maegawa, Michael B Tropak, Justin D Buttner, Brigitte A Rigat, Maria Fuller, Deepangi Pandit, Liangiie Tang, Gregory J Kornhaber, Yoshitomo Hamuro, Joe T R Clarke,[...]. J Biol Chem 2009
185
16

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Susan Elliott, Norman Buroker, Jason J Cournoyer, Anna M Potier, Joseph D Trometer, Carole Elbin, Mack J Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek,[...]. Mol Genet Metab 2016
82
16

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
D L Stone, O P van Diggelen, J B de Klerk, J L Gaillard, M F Niermeijer, R Willemsen, N Tayebi, E Sidransky. Eur J Hum Genet 1999
34
16

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.
Ermias Hagege, Richard J Grey, Grisel Lopez, Tamanna Roshan Lal, Ellen Sidransky, Nahid Tayebi. Am J Med Genet A 2017
4
25


Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders.
Srilatha Kadali, Tumuluri Madalasa, Gummadi Maheshwar Reddy, Shaik Mohammad Naushad. Clin Biochem 2018
1
100


Lysosomal storage disease as an etiology of nonimmune hydrops.
Alexis C Gimovsky, Paola Luzi, Vincenzo Berghella. Am J Obstet Gynecol 2015
33
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.