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



Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan Gonorazky, Kristl Claeys, Himanshu Joshi, Adam Bournazos, Emily C Oates, Roula Ghaoui, Mark R Davis, Nigel G Laing, Ana Topf, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James J Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bönnemann, Daniel G MacArthur. Sci Transl Med 2017
Times Cited: 271




List of shared articles



Times cited

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
Daniel G Calame, Jawid Fatih, Isabella Herman, Zeynep Coban Akdemir, Haowei Du, Shalini N Jhangiani, Richard A Gibbs, Dana Marafi, Davut Pehlivan, Jennifer E Posey,[...]. Neurol Genet 2021
2

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Daniel G Calame, Jawid M Fatih, Isabella Herman, Zeynep Coban-Akdemir, Haowei Du, Tadahiro Mitani, Shalini N Jhangiani, Dana Marafi, Richard A Gibbs, Jennifer E Posey,[...]. Ann Clin Transl Neurol 2021
0

A brief history of human disease genetics.
Melina Claussnitzer, Judy H Cho, Rory Collins, Nancy J Cox, Emmanouil T Dermitzakis, Matthew E Hurles, Sekar Kathiresan, Eimear E Kenny, Cecilia M Lindgren, Daniel G MacArthur,[...]. Nature 2020
97

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Taila Hartley, Gabrielle Lemire, Kristin D Kernohan, Heather E Howley, David R Adams, Kym M Boycott. Annu Rev Genomics Hum Genet 2020
15

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

A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Diane B Zastrow, Jennefer N Kohler, Devon Bonner, Chloe M Reuter, Liliana Fernandez, Megan E Grove, Dianna G Fisk, Yaping Yang, Christine M Eng, Patricia A Ward,[...]. J Genet Couns 2019
2

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

Clinical sequencing: From raw data to diagnosis with lifetime value.
S M Caspar, N Dubacher, A M Kopps, J Meienberg, C Henggeler, G Matyas. Clin Genet 2018
39

The role of the clinician in the multi-omics era: are you ready?
Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, Mirjam Langeveld, Carlos R Ferreira, Jiddeke M van de Kamp, Carla E Hollak, Wyeth W Wasserman, Hans R Waterham, Ron A Wevers,[...]. J Inherit Metab Dis 2018
26

Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
150