A citation-based method for searching scientific literature

Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers, Janneke H Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L Carvill, Deana Li, David Amaral, Natasha Brown, Paul J Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R F Reijnders, Beth S Torchia, Hilde Peeters, Brian J O'Roak, Marco Fichera, Jayne Y Hehir-Kwa, Jay Shendure, Heather C Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler. Nat Genet 2014
Times Cited: 316



Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
Times Cited: 574




List of shared articles



Times cited

Clinical delineation of SETBP1 haploinsufficiency disorder.
Nadieh A Jansen, Ruth O Braden, Siddharth Srivastava, Erin F Otness, Gaetan Lesca, Massimiliano Rossi, Mathilde Nizon, Raphael A Bernier, Chloé Quelin, Arie van Haeringen,[...]. Eur J Hum Genet 2021
0

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Marija Kojic, Tomasz Gawda, Monika Gaik, Alexander Begg, Anna Salerno-Kochan, Nyoman D Kurniawan, Alun Jones, Katarzyna Drożdżyk, Anna Kościelniak, Andrzej Chramiec-Głąbik,[...]. Nat Commun 2021
0

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick R Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles,[...]. Genet Med 2020
6

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Thabo M Yates, Morgan Drucker, Angela Barnicoat, Karen Low, Erica H Gerkes, Andrew E Fry, Michael J Parker, Mary O'Driscoll, Perrine Charles, Helen Cox,[...]. Hum Mutat 2020
2

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell, Meredith Curtis, Stephanie Luca, Jason Buera, Danielle Arje, Miriam S Reuter,[...]. JAMA Netw Open 2020
6

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
58

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Sandra Jansen, Ilse M van der Werf, A Micheil Innes, Alexandra Afenjar, Pankaj B Agrawal, Ilse J Anderson, Paldeep S Atwal, Ellen van Binsbergen, Marie-José van den Boogaard, Lucia Castiglia,[...]. Eur J Hum Genet 2019
8