A citation-based method for searching scientific literature

Mohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, Jill A Rosenfeld, Tomasz Gambin, Asbjørg Stray-Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R Lalani, Christian P Schaaf, Michael F Wangler, Carlos A Bacino, Richard Alan Lewis, Lorraine Potocki, Brett H Graham, John W Belmont, Fernando Scaglia, Jordan S Orange, Shalini N Jhangiani, Theodore Chiang, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Fan Xia, Arthur L Beaudet, Eric Boerwinkle, Christine M Eng, Sharon E Plon, V Reid Sutton, Richard A Gibbs, Jennifer E Posey, Yaping Yang, James R Lupski. Genome Med 2017
Times Cited: 108



Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu, Matthew Hardison, Richard Person, Mir Reza Bekheirnia, Magalie S Leduc, Amelia Kirby, Peter Pham, Jennifer Scull, Min Wang, Yan Ding, Sharon E Plon, James R Lupski, Arthur L Beaudet, Richard A Gibbs, Christine M Eng. N Engl J Med 2013
Times Cited: 1195




List of shared articles



Times cited

Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.
Ivan K Chinn, Alice Y Chan, Karin Chen, Janet Chou, Morna J Dorsey, Joud Hajjar, Artemio M Jongco, Michael D Keller, Lisa J Kobrynski, Attila Kumanovics,[...]. J Allergy Clin Immunol 2020
21

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Mark N Ziats, Ayesha Ahmad, John A Bernat, Rachel Fisher, Megan Glassford, Mark C Hannibal, Joseph E Jacher, Natasha Weiser, Catherine E Keegan, Kristen N Lee,[...]. Pediatr Res 2020
4

Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Kendall J Burdick, Joy D Cogan, Lynette C Rives, Amy K Robertson, Mary E Koziura, Elly Brokamp, Laura Duncan, Vickie Hannig, Jean Pfotenhauer, Rena Vanzo,[...]. Am J Med Genet A 2020
3


Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.
Mengge Zhao, James M Havrilla, Li Fang, Ying Chen, Jacqueline Peng, Cong Liu, Chao Wu, Mahdi Sarmady, Pablo Botas, Julián Isla,[...]. NAR Genom Bioinform 2020
9

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
Marco Salvatore, Agata Polizzi, Maria Chiara De Stefano, Giovanna Floridia, Simone Baldovino, Dario Roccatello, Savino Sciascia, Elisa Menegatti, Giuseppe Remuzzi, Erica Daina,[...]. Ital J Pediatr 2020
0

Clinical genomics and contextualizing genome variation in the diagnostic laboratory.
James R Lupski, Pengfei Liu, Pawel Stankiewicz, Claudia M B Carvalho, Jennifer E Posey. Expert Rev Mol Diagn 2020
4

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Jasmine L F Fung, Mullin H C Yu, Shushu Huang, Claudia C Y Chung, Marcus C Y Chan, Sander Pajusalu, Christopher C Y Mak, Vivian C C Hui, Mandy H Y Tsang, Kit San Yeung,[...]. NPJ Genom Med 2020
9

Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance.
Aquillah M Kanzi, James Emmanuel San, Benjamin Chimukangara, Eduan Wilkinson, Maryam Fish, Veron Ramsuran, Tulio de Oliveira. Front Genet 2020
2

A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Timo Lassmann, Richard W Francis, Alexia Weeks, Dave Tang, Sarra E Jamieson, Stephanie Broley, Hugh J S Dawkins, Lauren Dreyer, Jack Goldblatt, Tudor Groza,[...]. NPJ Genom Med 2020
1

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Jasmine L F Fung, Mullin H C Yu, Shushu Huang, Claudia C Y Chung, Marcus C Y Chan, Sander Pajusalu, Christopher C Y Mak, Vivian C C Hui, Mandy H Y Tsang, Kit San Yeung,[...]. NPJ Genom Med 2020
1

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
31

Insights into genetics, human biology and disease gleaned from family based genomic studies.
Jennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, Tamar Harel, Shalini N Jhangiani, Zeynep H Coban Akdemir, Steven Buyske, Davut Pehlivan, Claudia M B Carvalho, Samantha Baxter,[...]. Genet Med 2019
67


Genomic Medicine-Progress, Pitfalls, and Promise.
Jay Shendure, Gregory M Findlay, Matthew W Snyder. Cell 2019
45

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Laure Frésard, Craig Smail, Nicole M Ferraro, Nicole A Teran, Xin Li, Kevin S Smith, Devon Bonner, Kristin D Kernohan, Shruti Marwaha, Zachary Zappala,[...]. Nat Med 2019
74

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
68

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Davut Pehlivan, Yavuz Bayram, Nilay Gunes, Zeynep Coban Akdemir, Anju Shukla, Tatjana Bierhals, Burcu Tabakci, Yavuz Sahin, Alper Gezdirici, Jawid M Fatih,[...]. Am J Hum Genet 2019
36

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Ange-Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thevenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean-Marçais,[...]. Eur J Hum Genet 2019
11

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H Németh, Elizabeth Ormondroyd,[...]. Genome Med 2019
12

Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
Chloe M Reuter, Jennefer N Kohler, Devon Bonner, Diane Zastrow, Liliana Fernandez, Annika Dries, Shruti Marwaha, Jean Davidson, Elly Brokamp, Matthew Herzog,[...]. J Genet Couns 2019
12

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Elias L Salfati, Emily G Spencer, Sarah E Topol, Evan D Muse, Manuel Rueda, Jonathan R Lucas, Glenn N Wagner, Steven Campman, Eric J Topol, Ali Torkamani. Genome Med 2019
12

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Janson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W M van Bon, Alper Gezdirici, Elif Yilmaz Gulec, Francis Ramond,[...]. Am J Hum Genet 2018
47

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
125

Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.
Raquel Ruiz-García, Alexander Vargas-Hernández, Ivan K Chinn, Laura S Angelo, Tram N Cao, Zeynep Coban-Akdemir, Shalini N Jhangiani, Qingchang Meng, Lisa R Forbes, Donna M Muzny,[...]. J Allergy Clin Immunol 2018
24

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.
Luigi Maione, Andrew A Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jérôme Bouligand, Jacques Young. Eur J Endocrinol 2018
69

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M White, Tiong Yang Tan. Eur J Hum Genet 2018
50

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
62

Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Jung Hoon Son, Gangcai Xie, Chi Yuan, Lyudmila Ena, Ziran Li, Andrew Goldstein, Lulin Huang, Liwei Wang, Feichen Shen, Hongfang Liu,[...]. Am J Hum Genet 2018
46

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
165

SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
Estrella López-Martín, Beatriz Martínez-Delgado, Eva Bermejo-Sánchez, Javier Alonso, Manuel Posada. Int J Environ Res Public Health 2018
8

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Xia Wang, Jennifer E Posey, Jill A Rosenfeld, Carlos A Bacino, Fernando Scaglia, LaDonna Immken, Jill M Harris, Scott E Hickey, Theresa M Mosher, Anne Slavotinek,[...]. Ann Clin Transl Neurol 2018
27