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



Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding, Fan Xia, Arthur L Beaudet, Donna M Muzny, Richard A Gibbs, Eric Boerwinkle, Christine M Eng, V Reid Sutton, Chad A Shaw, Sharon E Plon, Yaping Yang, James R Lupski. N Engl J Med 2017
Times Cited: 329




List of shared articles



Times cited

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Paulina Bahena, Narsis Daftarian, Reza Maroofian, Paola Linares, Daniel Villalobos, Mehraban Mirrahimi, Aboulfazl Rad, Julia Doll, Michaela A H Hofrichter, Asuman Koparir,[...]. Hum Genet 2021
1

Genetic Testing and Counseling and Child Neurology.
Roa Sadat, Lisa Emrick. Neurol Clin 2021
0

Clinical Exome Reanalysis: Current Practice and Beyond.
Jianling Ji, Marco L Leung, Samuel Baker, Joshua L Deignan, Avni Santani. Mol Diagn Ther 2021
0

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
I Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, I Lorda-Sanchez, S Tahsin-Swafiri, A Avila-Fernandez, I Martin-Merida, M J Trujillo-Tiebas, R Lopez-Rodriguez, M Rodriguez de Alba,[...]. Hum Genet 2021
0

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome.
Christopher M Grochowski, Ana C V Krepischi, Jesper Eisfeldt, Haowei Du, Debora R Bertola, Danyllo Oliveira, Silvia S Costa, James R Lupski, Anna Lindstrand, Claudia M B Carvalho. Front Genet 2021
1

Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
Michelle E Walters, Yves Lacassie, Mahshid Azamian, Rachel Franciskovich, Gladys Zapata, Patricia P Hernandez, Pengfei Liu, Ian M Campbell, Bret L Bostwick, Seema R Lalani. Am J Med Genet A 2021
0

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
Jing Wang, Jiale Xiang, Lisha Chen, Hongyu Luo, Xiuhua Xu, Nan Li, Chunming Cui, Jingjing Xu, Nana Song, Jiguang Peng,[...]. Sci Rep 2021
1

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Leonardo Gatticchi, Dominika Vešelényiová, Jan Miertus, Paolo Enrico Maltese, Elena Manara, Alisia Costantini, Sabrina Benedetti, Darina Ďurovčíková, Juraj Krajcovic, Matteo Bertelli. Mol Genet Genomic Med 2021
1

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Dhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur, Suvasini Sharma, Narayanaswamy Suresh, Sheela Nampoothiri, Michelle C do Rosario, Puneeth H Somashekar, Lakshmi Priya Rao, Neethukrishna Kausthubham,[...]. Eur J Hum Genet 2021
0


The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics.
Sarah L Stenton, Laura S Kremer, Robert Kopajtich, Christina Ludwig, Holger Prokisch. J Inherit Metab Dis 2020
16