A citation-based method for searching scientific literature

Hanan E Shamseldin, Abdulrahman Swaid, Fowzan S Alkuraya. Genet Med 2013
Times Cited: 26







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



Times Cited
  Times     Co-cited
Similarity


Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.
I Filges, E Nosova, E Bruder, S Tercanli, K Townsend, W T Gibson, B Röthlisberger, K Heinimann, J G Hall, C Y Gregory-Evans,[...]. Clin Genet 2014
70
38

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
Keren J Carss, Sarah C Hillman, Vijaya Parthiban, Dominic J McMullan, Eamonn R Maher, Mark D Kilby, Matthew E Hurles. Hum Mol Genet 2014
107
38

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
38

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
819
30

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Hanan E Shamseldin, Maha Tulbah, Wesam Kurdi, Maha Nemer, Nada Alsahan, Elham Al Mardawi, Ola Khalifa, Amal Hashem, Ahmed Kurdi, Zainab Babay,[...]. Genome Biol 2015
59
30


Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Neeta L Vora, Bradford Powell, Alicia Brandt, Natasha Strande, Emily Hardisty, Kelly Gilmore, Ann Katherine M Foreman, Kirk Wilhelmsen, Chris Bizon, Jason Reilly,[...]. Genet Med 2017
86
26

Whole exome sequencing in recurrent early pregnancy loss.
Ying Qiao, Jiadi Wen, Flamingo Tang, Sally Martell, Naomi Shomer, Peter C K Leung, Mary D Stephenson, Evica Rajcan-Separovic. Mol Hum Reprod 2016
30
26

Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Michael E Talkowski, Zehra Ordulu, Vamsee Pillalamarri, Carol B Benson, Ian Blumenthal, Susan Connolly, Carrie Hanscom, Naveed Hussain, Shahrin Pereira, Jonathan Picker,[...]. N Engl J Med 2012
120
23

Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.
I Filges, I Manokhina, M S Peñaherrera, D E McFadden, K Louie, E Nosova, J M Friedman, W P Robinson. Mol Hum Reprod 2015
22
27

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
Sian Ellard, Emma Kivuva, Peter Turnpenny, Karen Stals, Matthew Johnson, Weijia Xie, Richard Caswell, Hana Lango Allen. Eur J Hum Genet 2015
33
23

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.
Y Tsurusaki, R Yonezawa, M Furuya, G Nishimura, R K Pooh, M Nakashima, H Saitsu, N Miyake, S Saito, N Matsumoto. Clin Genet 2014
21
28

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
23

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
23

Molecular autopsy in maternal-fetal medicine.
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan,[...]. Genet Med 2018
47
23

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
19

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
567
19

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
19

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Carin L Yates, Kristin G Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola. Genet Med 2017
63
19

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Maria Wilbe, Sara Ekvall, Karin Eurenius, Katharina Ericson, Olivera Casar-Borota, Joakim Klar, Niklas Dahl, Adam Ameur, Göran Annerén, Marie-Louise Bondeson. J Med Genet 2015
26
19

Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
458
19

Novel genes and mutations in patients affected by recurrent pregnancy loss.
Paula Quintero-Ronderos, Eric Mercier, Michiko Fukuda, Ronald González, Carlos Fernando Suárez, Manuel Alfonso Patarroyo, Daniel Vaiman, Jean-Christophe Gris, Paul Laissue. PLoS One 2017
28
19

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
15

Disease gene identification strategies for exome sequencing.
Christian Gilissen, Alexander Hoischen, Han G Brunner, Joris A Veltman. Eur J Hum Genet 2012
276
15


ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond,[...]. Genet Med 2013
15

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Brigette Tippin Davis, Ruth M Baxter, Wenqi Zeng, Cameron Mroske, Melissa C Parra,[...]. Genet Med 2015
292
15


Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Sarah E Soden, Carol J Saunders, Laurel K Willig, Emily G Farrow, Laurie D Smith, Josh E Petrikin, Jean-Baptiste LePichon, Neil A Miller, Isabelle Thiffault, Darrell L Dinwiddie,[...]. Sci Transl Med 2014
319
15

Genetics of recurrent pregnancy loss.
Sony Sierra, Mary Stephenson. Semin Reprod Med 2006
109
15


Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
Christina L Alamillo, Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Elaine C Weltmer, John Turocy, Thomas Lowe, Christine Kobelka, Emily Chen, Donald Basel,[...]. Prenat Diagn 2015
54
15

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie,[...]. Genet Med 2016
203
15


Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Karen L Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C Gunning, Hana Lango Allen,[...]. Prenat Diagn 2018
37
15

Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Neil A Hanchard, David R Murdock, Pilar L Magoulas, Matthew Bainbridge, Donna Muzny, YuanQing Wu, Min Wang, James R Lupski, Richard A Gibbs, Chester W Brown. Clin Genet 2013
22
13

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.
Andreas Gnirke, Alexandre Melnikov, Jared Maguire, Peter Rogov, Emily M LeProust, William Brockman, Timothy Fennell, Georgia Giannoukos, Sheila Fisher, Carsten Russ,[...]. Nat Biotechnol 2009
916
11

Predicting the effects of amino acid substitutions on protein function.
Pauline C Ng, Steven Henikoff. Annu Rev Genomics Hum Genet 2006
613
11


A map of human genome variation from population-scale sequencing.
Gonçalo R Abecasis, David Altshuler, Adam Auton, Lisa D Brooks, Richard M Durbin, Richard A Gibbs, Matt E Hurles, Gil A McVean. Nature 2010
11

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Elizabeth A Worthey, Alan N Mayer, Grant D Syverson, Daniel Helbling, Benedetta B Bonacci, Brennan Decker, Jaime M Serpe, Trivikram Dasu, Michael R Tschannen, Regan L Veith,[...]. Genet Med 2011
477
11


De novo mutations in human genetic disease.
Joris A Veltman, Han G Brunner. Nat Rev Genet 2012
450
11

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis.
S C Hillman, D J McMullan, G Hall, F S Togneri, N James, E J Maher, C H Meller, D Williams, R J Wapner, E R Maher,[...]. Ultrasound Obstet Gynecol 2013
158
11

Kif14 mutation causes severe brain malformation and hypomyelination.
Kohei Fujikura, Tomiyoshi Setsu, Kenji Tanigaki, Takaya Abe, Hiroshi Kiyonari, Toshio Terashima, Toshiaki Sakisaka. PLoS One 2013
26
11


Prenatal exome sequencing for fetuses with structural abnormalities: the next step.
S C Hillman, D Willams, K J Carss, D J McMullan, M E Hurles, M D Kilby. Ultrasound Obstet Gynecol 2015
38
11

A systematic survey of loss-of-function variants in human protein-coding genes.
Daniel G MacArthur, Suganthi Balasubramanian, Adam Frankish, Ni Huang, James Morris, Klaudia Walter, Luke Jostins, Lukas Habegger, Joseph K Pickrell, Stephen B Montgomery,[...]. Science 2012
763
11

Noninvasive whole-genome sequencing of a human fetus.
Jacob O Kitzman, Matthew W Snyder, Mario Ventura, Alexandra P Lewis, Ruolan Qiu, Lavone E Simmons, Hilary S Gammill, Craig E Rubens, Donna A Santillan, Jeffrey C Murray,[...]. Sci Transl Med 2012
241
11



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.