A citation-based method for searching scientific literature

Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein. J Med Genet 2012
Times Cited: 273







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



Times Cited
  Times     Co-cited
Similarity


Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
Makoto Asahina, Reiko Fujinawa, Sayuri Nakamura, Kotaro Yokoyama, Ryuichi Tozawa, Tadashi Suzuki. Hum Mol Genet 2020
6
66

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
Izabel Maryalexandra Rios-Flores, Miguel Ángel Bonal-Pérez, Abril Castellanos-González, Ezequiel Velez-Gómez, Aida M Bertoli-Avella, Lucina Bobadilla-Morales, Christian Peña-Padilla, Valentina Appendini-Andrade, Alfredo Corona-Rivera, Ivón Romero-Valenzuela,[...]. Eur J Med Genet 2020
4
100

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.
Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan, ZhongqinJin. BMC Med Genet 2020
4
100

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Robert W Taylor, Angela Pyle, Helen Griffin, Emma L Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L Alston, Vivienne C Neeve, Andrew Best,[...]. JAMA 2014
201
3

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
William A Gahl, John J Mulvihill, Camilo Toro, Thomas C Markello, Anastasia L Wise, Rachel B Ramoni, David R Adams, Cynthia J Tifft. Mol Genet Metab 2016
82
3

Clinical whole exome sequencing in child neurology practice.
Siddharth Srivastava, Julie S Cohen, Hilary Vernon, Kristin Barañano, Rebecca McClellan, Leila Jamal, SakkuBai Naidu, Ali Fatemi. Ann Neurol 2014
151
3

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
285
3

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Tobias B Haack, Birgit Haberberger, Eva-Maria Frisch, Thomas Wieland, Arcangela Iuso, Matteo Gorza, Valentina Strecker, Elisabeth Graf, Johannes A Mayr, Ulrike Herberg,[...]. J Med Genet 2012
115
3

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
103
3

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Anas M Alazami, Nisha Patel, Hanan E Shamseldin, Shamsa Anazi, Mohammed S Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A Aldahmesh, Mustafa A Salih,[...]. Cell Rep 2015
220
3

A de novo paradigm for mental retardation.
Lisenka E L M Vissers, Joep de Ligt, Christian Gilissen, Irene Janssen, Marloes Steehouwer, Petra de Vries, Bart van Lier, Peer Arts, Nienke Wieskamp, Marisol del Rosario,[...]. Nat Genet 2010
541
3

Targeted capture and massively parallel sequencing of 12 human exomes.
Sarah B Ng, Emily H Turner, Peggy D Robertson, Steven D Flygare, Abigail W Bigham, Choli Lee, Tristan Shaffer, Michelle Wong, Arindam Bhattacharjee, Evan E Eichler,[...]. Nature 2009
3

Disease gene identification strategies for exome sequencing.
Christian Gilissen, Alexander Hoischen, Han G Brunner, Joris A Veltman. Eur J Hum Genet 2012
273
3

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Tychele N Turner, Fereydoun Hormozdiari, Michael H Duyzend, Sarah A McClymont, Paul W Hook, Ivan Iossifov, Archana Raja, Carl Baker, Kendra Hoekzema, Holly A Stessman,[...]. Am J Hum Genet 2016
151
3

Phen-Gen: combining phenotype and genotype to analyze rare disorders.
Asif Javed, Saloni Agrawal, Pauline C Ng. Nat Methods 2014
84
3

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
C Sue Richards, Sherri Bale, Daniel B Bellissimo, Soma Das, Wayne W Grody, Madhuri R Hegde, Elaine Lyon, Brian E Ward. Genet Med 2008
517
3

ACMG clinical laboratory standards for next-generation sequencing.
Heidi L Rehm, Sherri J Bale, Pinar Bayrak-Toydemir, Jonathan S Berg, Kerry K Brown, Joshua L Deignan, Michael J Friez, Birgit H Funke, Madhuri R Hegde, Elaine Lyon. Genet Med 2013
526
3


Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
Carolien G F de Kovel, Eva H Brilstra, Marjan J A van Kempen, Ruben Van't Slot, Isaac J Nijman, Zaid Afawi, Peter De Jonghe, Tania Djémié, Renzo Guerrini, Katia Hardies,[...]. Mol Genet Genomic Med 2016
57
5


EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.
Brett Deml, Linda M Reis, Sanaa Muheisen, David Bick, Elena V Semina. Birth Defects Res A Clin Mol Teratol 2015
18
16

Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.
Yuri A Zarate, Carla Bell, G Bradley Schaefer. Cleft Palate Craniofac J 2015
10
30

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.
Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Siulan Vendramini, Alfredo Tabith Júnior. Clin Dysmorphol 2006
33
9

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
Jeong Ho Lee, My Huynh, Jennifer L Silhavy, Sangwoo Kim, Tracy Dixon-Salazar, Andrew Heiberg, Eric Scott, Vineet Bafna, Kiley J Hill, Adrienne Collazo,[...]. Nat Genet 2012
399
3

De novo mutations in moderate or severe intellectual disability.
Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo,[...]. PLoS Genet 2014
224
3

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
Gaelle Thierry, Claire Bénéteau, Olivier Pichon, Elisabeth Flori, Bertrand Isidor, Françoise Popelard, Marie-Ange Delrue, Laetitia Duboscq-Bidot, Ann-Charlotte Thuresson, Bregje W M van Bon,[...]. Am J Med Genet A 2012
45
6

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
Almuth Caliebe, Hester Y Kroes, Jasper J van der Smagt, José I Martin-Subero, Holger Tönnies, Ruben van 't Slot, Rutger A J Nievelstein, Hiltrud Muhle, Ulrich Stephani, Karsten Alfke,[...]. Eur J Med Genet 2010
63
4

PLINK: a tool set for whole-genome association and population-based linkage analyses.
Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A R Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I W de Bakker, Mark J Daly,[...]. Am J Hum Genet 2007
3

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh, Rodger Palmer, Deborah Morrogh, Christopher Boustred, Jane A Hurst,[...]. J Med Genet 2016
115
3

Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.
Radhika Dhamija, Elaine Wirrell, Germano Falcao, Salman Kirmani, Lily C Wong-Kisiel. Pediatr Neurol 2013
25
12

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Johannes R Lemke, Erik Riesch, Tim Scheurenbrand, Max Schubach, Christian Wilhelm, Isabelle Steiner, Jörg Hansen, Carolina Courage, Sabina Gallati, Sarah Bürki,[...]. Epilepsia 2012
227
3

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
Katherine B Howell, Jacinta M McMahon, Gemma L Carvill, Dimira Tambunan, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster, Damian Clark, Jeremy L Freeman, Sophie Calvert,[...]. Neurology 2015
122
3

Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
Annette Hackenberg, Alessandra Baumer, Heinrich Sticht, Bernhard Schmitt, Judith Kroell-Seger, David Wille, Pascal Joset, Sorina Papuc, Anita Rauch, Barbara Plecko. Neuropediatrics 2014
21
14

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Anna-Lena Baasch, Irina Hüning, Christian Gilissen, Joerg Klepper, Joris A Veltman, Gabriele Gillessen-Kaesbach, Alexander Hoischen, Katja Lohmann. Epilepsia 2014
46
6

Confirming an expanded spectrum of SCN2A mutations: a case series.
Dena Matalon, Ethan Goldberg, Livija Medne, Eric D Marsh. Epileptic Disord 2014
22
13

A case of recurrent encephalopathy with SCN2A missense mutation.
Tatsuya Fukasawa, Tetsuo Kubota, Tamiko Negoro, Makiko Saitoh, Masashi Mizuguchi, Yukiko Ihara, Atsushi Ishii, Shinichi Hirose. Brain Dev 2015
12
25

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan,[...]. Nat Genet 2015
189
3





Non-lysosomal degradation pathway for N-linked glycans and dolichol-linked oligosaccharides.
Tadashi Suzuki, Yoichiro Harada. Biochem Biophys Res Commun 2014
25
12

Targeted exome sequencing of suspected mitochondrial disorders.
Daniel S Lieber, Sarah E Calvo, Kristy Shanahan, Nancy G Slate, Shangtao Liu, Steven G Hershman, Nina B Gold, Brad A Chapman, David R Thorburn, Gerard T Berry,[...]. Neurology 2013
104
3

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Alexander Hoischen, Bregje W M van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier,[...]. Nat Genet 2010
320
3

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
Kym M Boycott, Megan R Vanstone, Dennis E Bulman, Alex E MacKenzie. Nat Rev Genet 2013
414
3

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith,[...]. Nature 2012
3

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer, T Hartley, D A Dyment, C L Beaulieu, J Schwartzentruber, A Smith, H M Bedford, G Bernard, F P Bernier, B Brais,[...]. Clin Genet 2016
201
3

Rapid whole genome sequencing and precision neonatology.
Joshua E Petrikin, Laurel K Willig, Laurie D Smith, Stephen F Kingsmore. Semin Perinatol 2015
99
3

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis,[...]. Sci Transl Med 2012
366
3

Recommendations for the integration of genomics into clinical practice.
Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam, John Belmont, Barbara Bernhardt, Leslie Biesecker, Hans T Bjornsson, Miriam Blitzer,[...]. Genet Med 2016
79
3


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.