A citation-based method for searching scientific literature

Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J Craigen, Mir Reza Bekheirnia, Asbjorg Stray-Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey Reid, Matthew Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L Beaudet, James R Lupski, Sharon E Plon, Richard A Gibbs, Christine M Eng. JAMA 2014
Times Cited: 809



Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
Times Cited: 6247




List of shared articles



Times cited

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Neha S Bhatia, Jiin Ying Lim, Carine Bonnard, Jyn-Ling Kuan, Maggie Brett, Heming Wei, Breana Cham, Huilin Chin, Celia Bosso-Lefevre, Perumal Dharuman,[...]. Arch Dis Child 2021
3

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
David A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, Zeynep Coban Akdemir, Kyrieckos A Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan H Beggs,[...]. Am J Med Genet A 2021
2

Long-read trio sequencing of individuals with unsolved intellectual disability.
Marc Pauper, Erdi Kucuk, Aaron M Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, Bart van der Sanden, Marcel R Nelen, Ronny Derks, Han G Brunner,[...]. Eur J Hum Genet 2021
2


Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Alejandro Horga, Andreea Manole, Alice L Mitchell, Enrico Bugiardini, Iain P Hargreaves, Walied Mowafi, Conceição Bettencourt, Emma L Blakely, Langping He, James M Polke,[...]. Mol Biol Rep 2021
1

Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.
Kimia Najafi, Zohreh Mehrjoo, Fariba Ardalani, Siavash Ghaderi-Sohi, Ariana Kariminejad, Roxana Kariminejad, Hossein Najmabadi. Sci Rep 2021
1

Identification and Classification of Rare Variants in NPC1 and NPC2 in Quebec.
Lahoud Touma, Marjorie Labrecque, Martine Tetreault, Antoine Duquette. Sci Rep 2021
0

Contributions of de novo variants to systemic lupus erythematosus.
Jonas Carlsson Almlöf, Sara Nystedt, Aikaterini Mechtidou, Dag Leonard, Maija-Leena Eloranta, Giorgia Grosso, Christopher Sjöwall, Anders A Bengtsson, Andreas Jönsen, Iva Gunnarsson,[...]. Eur J Hum Genet 2021
1

Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.
Lucía Spangenberg, Rosario Guecaimburú, Alejandra Tapié, Susana Vivas, Soledad Rodríguez, Martín Graña, Hugo Naya, Víctor Raggio. Mol Genet Genomic Med 2021
0

Exome variant discrepancies due to reference-genome differences.
He Li, Moez Dawood, Michael M Khayat, Jesse R Farek, Shalini N Jhangiani, Ziad M Khan, Tadahiro Mitani, Zeynep Coban-Akdemir, James R Lupski, Eric Venner,[...]. Am J Hum Genet 2021
1

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
Francisco M De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar Javier Hernandez, Terence Wong, Kiely James, Lucia Guidugli, Pankaj B Agrawal,[...]. Genome Med 2021
0