A citation-based method for searching scientific literature

Hadley Stevens Smith, Heidi V Russell, Brendan H Lee, Stephanie R Morain. Genet Med 2020
Times Cited: 6

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

Times Cited
  Times     Co-cited

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu,[...]. JAMA Pediatr 2017

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew Gross, Giuseppe Narzisi, Brett Bowman,[...]. Bioinformatics 2019

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Ahmed Alfares, Taghrid Aloraini, Lamia Al Subaie, Abdulelah Alissa, Ahmed Al Qudsi, Ahmed Alahmad, Fuad Al Mutairi, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid,[...]. Genet Med 2018

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Vandana Shashi, Kelly Schoch, Rebecca Spillmann, Heidi Cope, Queenie K-G Tan, Nicole Walley, Loren Pena, Allyn McConkie-Rosell, Yong-Hui Jiang, Nicholas Stong,[...]. Genet Med 2019

Reanalysis of Clinical Exome Sequencing Data.
Pengfei Liu, Linyan Meng, Elizabeth A Normand, Fan Xia, Xiaofei Song, Andrew Ghazi, Jill Rosenfeld, Pilar L Magoulas, Alicia Braxton, Patricia Ward,[...]. N Engl J Med 2019

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Margriet van Kogelenberg, Daniel A King, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova,[...]. Lancet 2015

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018

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

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

Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.
Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White. Genet Med 2019

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Laurel K Willig, Josh E Petrikin, Laurie D Smith, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Sarah E Soden, Julie A Cakici, Suzanne M Herd, Greyson Twist,[...]. Lancet Respir Med 2015

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Josh E Petrikin, Julie A Cakici, Michelle M Clark, Laurel K Willig, Nathaly M Sweeney, Emily G Farrow, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Lee Zellmer,[...]. NPJ Genom Med 2018

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, Michelle M Clark, Shimul Chowdhury, Shareef Nahas, Julie A Cakici, Wendy Benson, Robert H Kaplan, Richard Kronick,[...]. NPJ Genom Med 2018

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
Courtney E French, Isabelle Delon, Helen Dolling, Alba Sanchis-Juan, Olga Shamardina, Karyn Mégy, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo G Branco,[...]. Intensive Care Med 2019

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Aaron M Wenger, Harendra Guturu, Jonathan A Bernstein, Gill Bejerano. Genet Med 2017

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Sophie Nicole, Amina Chaouch, Torberg Torbergsen, Stéphanie Bauché, Elodie de Bruyckere, Marie-Joséphine Fontenille, Morten A Horn, Marijke van Ghelue, Sissel Løseth, Yasmin Issop,[...]. Brain 2014

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

Profiles and motives for PGD: a prospective cohort study of couples referred for PGD in the Netherlands.
Maartje C van Rij, Marij Gielen, Rutger Lulofs, Johannes L H Evers, Liesbeth van Osch, Nienke Muntjewerff, Joep P M Geraedts, Christine E M de Die-Smulders. Hum Reprod 2011

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.
Anna Kostera-Pruszczyk, Joanna Kosinska, Agnieszka Pollak, Piotr Stawinski, Anna Walczak, Krystyna Wasilewska, Anna Potulska-Chromik, Piotr Szczudlik, Anna Kaminska, Rafal Ploski. J Peripher Nerv Syst 2014

A fatal case of COQ7-associated primary coenzyme Q10 deficiency.
Anna K-Y Kwong, Annie T-G Chiu, Mandy H-Y Tsang, Kin-Shing Lun, Richard J T Rodenburg, Jan Smeitink, Brian H-Y Chung, Cheuk-Wing Fung. JIMD Rep 2019

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Klaus Schmitz-Abe, Qifei Li, Samantha M Rosen, Neeharika Nori, Jill A Madden, Casie A Genetti, Monica H Wojcik, Sadhana Ponnaluri, Cynthia S Gubbels, Jonathan D Picker,[...]. Eur J Hum Genet 2019

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

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Sophie Nambot, Julien Thevenon, Paul Kuentz, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Daphné Lehalle, Nolwenn Jean-Marçais,[...]. Genet Med 2018

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Robin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, M Stephen Meyn, Nasim Monfared, Sarah Bowdin, D James Stavropoulos, Christian R Marshall, Raveen Basran, Cheryl Shuman,[...]. Eur J Hum Genet 2017

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P Kirk, Alison Colley,[...]. Genet Med 2018

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Janneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, Mary K Kukolich, Ralitza H Gavrilova, Stephanie Greville-Heygate, Andrea Hanson-Kahn, Jonathan A Bernstein, Jennifer Glass, David Chitayat,[...]. Am J Med Genet A 2016

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

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral,[...]. Nat Genet 2017

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
Victoria H Lawson, Brad V Graham, Kevin M Flanigan. Neurology 2005

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Maryam Al-Nabhani, Samiya Al-Rashdi, Fathiya Al-Murshedi, Adila Al-Kindi, Khalid Al-Thihli, Abeer Al-Saegh, Amna Al-Futaisi, Watfa Al-Mamari, Fahad Zadjali, Almundher Al-Maawali. Clin Genet 2018

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
Michelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, Shelin Adam, Yaoqing Shen, Shing Hei Zhan, Casper Shyr, Gabriella Horvath, Mohnish Suri, Alan Fryer,[...]. Orphanet J Rare Dis 2014

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Slavé Petrovski, Sébastien Küry, Candace T Myers, Kwame Anyane-Yeboa, Benjamin Cogné, Martin Bialer, Fan Xia, Parisa Hemati, James Riviello, Michele Mehaffey,[...]. Am J Hum Genet 2016

The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Hendrik Rosewich, Andreas Ohlenbusch, Peter Huppke, Lars Schlotawa, Martina Baethmann, Inês Carrilho, Simona Fiori, Charles Marques Lourenço, Sarah Sawyer, Robert Steinfeld,[...]. Neurology 2014

Easy One-Step Amplification and Labeling Procedure for Copy Number Variation Detection.
Sebastián Blesa, María D Olivares, Andy S Alic, Alicia Serrano, Verónica Lendinez, Verónica González-Albert, Laura Olivares, Sergio Martínez-Hervás, José M Juanes, Pablo Marín,[...]. Clin Chem 2020

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen,[...]. Brain 2017

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Hendrik Rosewich, Holger Thiele, Andreas Ohlenbusch, Ulrike Maschke, Janine Altmüller, Peter Frommolt, Birgit Zirn, Friedrich Ebinger, Hartmut Siemes, Peter Nürnberg,[...]. Lancet Neurol 2012

The Ensembl Variant Effect Predictor.
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
Patricia de Carvalho Aguiar, Kathleen J Sweadner, John T Penniston, Jacek Zaremba, Liu Liu, Marsha Caton, Gurutz Linazasoro, Michel Borg, Marina A J Tijssen, Susan B Bressman,[...]. Neuron 2004

Chromosomal microarray impacts clinical management.
E R Riggs, K E Wain, D Riethmaier, B Smith-Packard, W A Faucett, N Hoppman, E C Thorland, V C Patel, D T Miller. Clin Genet 2014

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, Tomonori Furukawa,[...]. Am J Hum Genet 2010

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.
Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth. Genet Med 2018

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Christoph Freyer, Henrik Stranneheim, Karin Naess, Arnaud Mourier, Andrea Felser, Camilla Maffezzini, Nicole Lesko, Helene Bruhn, Martin Engvall, Rolf Wibom,[...]. J Med Genet 2015

AnnotSV: an integrated tool for structural variations annotation.
Véronique Geoffroy, Yvan Herenger, Arnaud Kress, Corinne Stoetzel, Amélie Piton, Hélène Dollfus, Jean Muller. Bioinformatics 2018

Attitude of at-risk subjects towards preimplantation genetic diagnosis of alpha- and beta-thalassaemias in Hong Kong.
Pui Wah Hui, Yung Hang Lam, Min Chen, Mary Hoi Yin Tang, William Shu Biu Yeung, Ernest Hung Yu Ng, Pak Chung Ho. Prenat Diagn 2002

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Erin L Heinzen, Kathryn J Swoboda, Yuki Hitomi, Fiorella Gurrieri, Sophie Nicole, Boukje de Vries, F Danilo Tiziano, Bertrand Fontaine, Nicole M Walley, Sinéad Heavin,[...]. Nat Genet 2012

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Caroline F Wright, Jeremy F McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken, Tomas W FitzGerald, Philip Jones, Elena Prigmore, Diana Rajan, Jenny Lord,[...]. Genet Med 2018

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Christopher Cy Mak, Gordon Kc Leung, Gary Tk Mok, Kit San Yeung, Wanling Yang, Cheuk-Wing Fung, Sophelia Hs Chan, So-Lun Lee, Ni-Chung Lee, Rolph Pfundt,[...]. NPJ Genom Med 2018

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.