A citation-based method for searching scientific literature

Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan, Dianalee McKnight, Renkui Bai, Sharon Suchy, Bethany Friedman, Jackie Tahiliani, Daniel Pineda-Alvarez, Gabriele Richard, Tracy Brandt, Eden Haverfield, Wendy K Chung, Sherri Bale. Genet Med 2016
Times Cited: 433



Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum, Laura D Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A Watts, Daniel Rhodes, Moriel Singer-Berk, Eleina M England, Eleanor G Seaby, Jack A Kosmicki, Raymond K Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X Chong, Kaitlin E Samocha, Emma Pierce-Hoffman, Zachary Zappala, Anne H O'Donnell-Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S Ware, Christopher Vittal, Irina M Armean, Louis Bergelson, Kristian Cibulskis, Kristen M Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentin Ruano-Rubio, Andrea Saltzman, Molly Schleicher, Jose Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E Talkowski, Benjamin M Neale, Mark J Daly, Daniel G MacArthur. Nature 2020
Times Cited: 1182




List of shared articles



Times cited

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results.
Ramakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew, James A Nassur, Kathleen M Loomes, David A Piccoli, Ian D Krantz, Laura K Conlin, Nancy B Spinner. Genet Med 2021
2

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
1

CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.
Amanda S Freed, Anisha C Schwarz, Brianna K Brei, Sarah V Clowes Candadai, Jenny Thies, Jean K Mah, Shilpi Chabra, Leo Wang, A Micheil Innes, James T Bennett. Am J Med Genet A 2021
0

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.
Maria J Nabais Sá, Alexandra N Olson, Grace Yoon, Graeme A M Nimmo, Christopher M Gomez, Michèl A Willemsen, Francisca Millan, Alexandra Schneider, Rolph Pfundt, Arjan P M de Brouwer,[...]. Hum Mol Genet 2021
0

Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
Meret Wegler, Christian Roth, Eckehard Schumann, Jillene Kogan, Ellen Totten, Maria J Guillen Sacoto, Rami Abou Jamra, Frauke Hornemann. Clin Genet 2021
1

Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
Peter Reilich, Beate Schlotter, Federica Montagnese, Berit Jordan, Friedrich Stock, Mario Schäff-Vogelsang, Benjamin Hotter, Katherina Eger, Isabel Diebold, Hannes Erdmann,[...]. Neuromuscul Disord 2021
0

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Víctor Faundes, Martin D Jennings, Siobhan Crilly, Sarah Legraie, Sarah E Withers, Sara Cuvertino, Sally J Davies, Andrew G L Douglas, Andrew E Fry, Victoria Harrison,[...]. Nat Commun 2021
4

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M Riedhammer, Dominik S Westphal, Isabella Mahle, Katharina Mayerhanser,[...]. Clin Genet 2021
1

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Fuad Chowdhury, Lei Wang, Mohammed Al-Raqad, David J Amor, Alice Baxová, Šárka Bendová, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J Cox,[...]. Genet Med 2021
0

MutationTaster2021.
Robin Steinhaus, Sebastian Proft, Markus Schuelke, David N Cooper, Jana Marie Schwarz, Dominik Seelow. Nucleic Acids Res 2021
0

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Norine Voisin, Rhonda E Schnur, Sofia Douzgou, Susan M Hiatt, Cecilie F Rustad, Natasha J Brown, Dawn L Earl, Boris Keren, Olga Levchenko, Sinje Geuer,[...]. Am J Hum Genet 2021
0

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Nikolaos M Marinakis, Maria Svingou, Danai Veltra, Kyriaki Kekou, Christalena Sofocleous, Faidon-Nikolaos Tilemis, Konstantina Kosma, Eirini Tsoutsou, Helen Fryssira, Joanne Traeger-Synodinos. Am J Med Genet A 2021
0

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Ilaria Mannucci, Nghi D P Dang, Hannes Huber, Jaclyn B Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles,[...]. Genome Med 2021
2

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
Brooke S Staley, Laura V Milko, Margaret Waltz, Ida Griesemer, Lonna Mollison, Tracey L Grant, Laura Farnan, Myra Roche, Angelo Navas, Alexandra Lightfoot,[...]. Trials 2021
0

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.
Eleanor G Seaby, Heidi L Rehm, Anne O'Donnell-Luria. Front Genet 2021
0