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



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

Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.
Behrouz Shademan, Cigir Biray Avci, Masoud Nikanfar, Alireza Nourazarian. Neuromolecular Med 2021
0

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Mathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, Nicolas Bourgon, Yannis Duffourd, Sophie Collardeau-Frachon, Tania Attie-Bitach, Paul Kuentz, Mirna Assoum, Elise Schaefer,[...]. J Med Genet 2021
0

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

Application of Next Generation Sequencing in Laboratory Medicine.
Yiming Zhong, Feng Xu, Jinhua Wu, Jeffrey Schubert, Marilyn M Li. Ann Lab Med 2021
8


Genetic testing in dementia - utility and clinical strategies.
Carolin A M Koriath, Joanna Kenny, Natalie S Ryan, Jonathan D Rohrer, Jonathan M Schott, Henry Houlden, Nick C Fox, Sarah J Tabrizi, Simon Mead. Nat Rev Neurol 2021
3

Improving diagnostics of rare genetic diseases with NGS approaches.
Mateja Vinkšel, Karin Writzl, Aleš Maver, Borut Peterlin. J Community Genet 2021
3

Recent Advances in the Clinical Application of Next-Generation Sequencing.
Chang-Seok Ki. Pediatr Gastroenterol Hepatol Nutr 2021
2

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi,[...]. Orphanet J Rare Dis 2021
0

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.
Ken Saida, Tokiko Fukuda, Daryl A Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia, Andres Hernandez-Garcia, Seema R Lalani, Mahshid S Azamian, Haley Streff,[...]. Front Cell Dev Biol 2021
0

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


Genetic Epidemiology of Complex Phenotypes.
Darren D O'Rielly, Proton Rahman. Methods Mol Biol 2021
0

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

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Yoav Bolkier, Ortal Barel, Dina Marek-Yagel, Danit Atias-Varon, Maayan Kagan, Amir Vardi, David Mishali, Uriel Katz, Yishay Salem, Tal Tirosh-Wagner,[...]. J Med Genet 2021
0

Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Daniel Danis, Julius O B Jacobsen, Leigh C Carmody, Michael A Gargano, Julie A McMurry, Ayushi Hegde, Melissa A Haendel, Giorgio Valentini, Damian Smedley, Peter N Robinson. Am J Hum Genet 2021
1

Developmental disabilities across the world: A scientometric review from 1936 to 2020.
Alessandro Carollo, Andrea Bonassi, Mengyu Lim, Giulio Gabrieli, Peipei Setoh, Dagmara Dimitriou, Vahid Aryadoust, Gianluca Esposito. Res Dev Disabil 2021
1

Interpretation of Incidental Genetic Findings Localizing to Genes Associated With Cardiac Channelopathies and Cardiomyopathies.
Jordan E Ezekian, Catherine Rehder, Priya S Kishnani, Andrew P Landstrom. Circ Genom Precis Med 2021
0

Molecular autopsy by proxy in preconception counseling.
Malak Ali Alghamdi, Ameinah Alrasheedi, Esra Alghamdi, Nouran Adly, Wajeih Y AlAali, Amal Alhashem, Abdulaziz Alshahrani, Hanan Shamseldin, Fowzan S Alkuraya, Majid Alfadhel. Clin Genet 2021
0

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
Lei Wang, Pengfei Liu, Weimin Bi, Teresa Sim, Xia Wang, Magdalene Walkiewicz, Magalie Sophie Leduc, Linyan Meng, Fan Xia, Christine M Eng,[...]. Mol Genet Genomic Med 2021
0

A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases.
David Pratella, Samira Ait-El-Mkadem Saadi, Sylvie Bannwarth, Véronique Paquis-Fluckinger, Silvia Bottini. Int J Mol Sci 2021
0

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

The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting.
Rivka Sukenik-Halevy, Noa Ruhrman-Shahar, Naama Orenstein, Claudia Gonzaga-Jauregui, Alan R Shuldiner, Nurit Magal, Ofir Hagari, Noy Azulay, Gabriel A Lidzbarsky, Lily Bazak,[...]. Prenat Diagn 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

Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population.
Jeffrey B S Gaither, Grant E Lammi, James L Li, David M Gordon, Harkness C Kuck, Benjamin J Kelly, James R Fitch, Peter White. Gigascience 2021
1

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Catherine Rehder, Lora J H Bean, David Bick, Elizabeth Chao, Wendy Chung, Soma Das, Julianne O'Daniel, Heidi Rehm, Vandana Shashi, Lisa M Vincent. Genet Med 2021
4

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

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
So Young Kim, Seungmin Lee, Go Hun Seo, Bong Jik Kim, Doo Yi Oh, Jin Hee Han, Moo Kyun Park, So Min Lee, Bonggi Kim, Nayoung Yi,[...]. Sci Rep 2021
0

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

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

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

Trio-whole-exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations.
Wei Guo, Yuchen Lai, Zhiqiang Yan, Yuqian Wang, Yanli Nie, Shuo Guan, Ying Kuo, Wenxin Zhang, Xiaohui Zhu, Mei Peng,[...]. Hum Mutat 2020
5

Considerations for whole exome sequencing unique to prenatal care.
Ahmad Abou Tayoun, Heather Mason-Suares. Hum Genet 2020
6