A citation-based method for searching scientific literature

Daniëlle G M Bosch, F Nienke Boonstra, Nicole de Leeuw, Rolph Pfundt, Willy M Nillesen, Joep de Ligt, Christian Gilissen, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Bert B A de Vries. Eur J Hum Genet 2016
Times Cited: 87







List of co-cited articles
560 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
21

De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
955
18

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Gregory M Enns, Vandana Shashi, Matthew Bainbridge, Michael J Gambello, Farah R Zahir, Thomas Bast, Rebecca Crimian, Kelly Schoch, Julia Platt, Rachel Cox,[...]. Genet Med 2014
127
16


NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Ahmet Okay Caglayan, Sinan Comu, Jacob F Baranoski, Yesim Parman, Hande Kaymakçalan, Gozde Tugce Akgumus, Caner Caglar, Duygu Dolen, Emine Zeynep Erson-Omay, Akdes Serin Harmanci,[...]. Eur J Med Genet 2015
53
22

Clinical application of exome sequencing in undiagnosed genetic conditions.
Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein. J Med Genet 2012
287
13

NR2F1 mutations cause optic atrophy with intellectual disability.
Daniëlle G M Bosch, F Nienke Boonstra, Claudia Gonzaga-Jauregui, Mafei Xu, Joep de Ligt, Shalini Jhangiani, Wojciech Wiszniewski, Donna M Muzny, Helger G Yntema, Rolph Pfundt,[...]. Am J Hum Genet 2014
70
15

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Stefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, Helger G Yntema, Erik-Jan Kamsteeg, Petra de Vries, Bert B A de Vries, Marjolein H Willemsen, Tjitske Kleefstra, Katharina Löhner,[...]. Nat Neurosci 2016
232
12

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
12

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Christina Lam, Carlos Ferreira, Donna Krasnewich, Camilo Toro, Lea Latham, Wadih M Zein, Tanya Lehky, Carmen Brewer, Eva H Baker, Audrey Thurm,[...]. Genet Med 2017
72
15


De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
Hui Yang, Ganka Douglas, Kristin G Monaghan, Kyle Retterer, Megan T Cho, Luis F Escobar, Megan E Tucker, Joan Stoler, Lance H Rodan, Diane Stein,[...]. Cold Spring Harb Mol Case Stud 2015
17
58

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Fan Xia, Matthew N Bainbridge, Tiong Yang Tan, Michael F Wangler, Angela E Scheuerle, Elaine H Zackai, Margaret H Harr, V Reid Sutton, Roopa L Nalam, Wenmiao Zhu,[...]. Am J Hum Genet 2014
35
28

Endo-β-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells.
Chengcheng Huang, Yoichiro Harada, Akira Hosomi, Yuki Masahara-Negishi, Junichi Seino, Haruhiko Fujihira, Yoko Funakoshi, Takehiro Suzuki, Naoshi Dohmae, Tadashi Suzuki. Proc Natl Acad Sci U S A 2015
67
13

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.
Ping He, Jeff E Grotzke, Bobby G Ng, Murat Gunel, Hamed Jafar-Nejad, Peter Cresswell, Gregory M Enns, Hudson H Freeze. Glycobiology 2015
25
32

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Naomi Hino-Fukuyo, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Tetsuya Niihori, Ryo Sato, Tasuku Suzuki, Hiroki Kudo, Yuko Sato, Tojo Nakayama, Yosuke Kakisaka,[...]. Hum Genet 2015
31
25

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
692
9

Glutamate receptor ion channels: structure, regulation, and function.
Stephen F Traynelis, Lonnie P Wollmuth, Chris J McBain, Frank S Menniti, Katie M Vance, Kevin K Ogden, Kasper B Hansen, Hongjie Yuan, Scott J Myers, Ray Dingledine. Pharmacol Rev 2010
9

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
9


The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh,[...]. Genet Med 2016
43
18

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
Fabiola Quintero-Rivera, Qiongchao J Xi, Kim M Keppler-Noreuil, Ji Hyun Lee, Anne W Higgins, Raymond M Anchan, Amy E Roberts, Ihn Sik Seong, Xueping Fan, Kasper Lage,[...]. Hum Mol Genet 2015
59
13

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Johannes R Lemke, Kirsten Geider, Katherine L Helbig, Henrike O Heyne, Hannah Schütz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine Heron,[...]. Neurology 2016
99
9


NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay.
Hussam Al-Kateb, Joshua S Shimony, Marisa Vineyard, Linda Manwaring, Shashikant Kulkarni, Marwan Shinawi. Am J Med Genet A 2013
31
22

The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions.
Tadashi Suzuki, Chengcheng Huang, Haruhiko Fujihira. Gene 2016
60
11

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.
J Tarabeux, O Kebir, J Gauthier, F F Hamdan, L Xiong, A Piton, D Spiegelman, É Henrion, B Millet, F Fathalli,[...]. Transl Psychiatry 2011
148
8

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Brian J O'Roak, Laura Vives, Wenqing Fu, Jarrett D Egertson, Ian B Stanaway, Ian G Phelps, Gemma Carvill, Akash Kumar, Choli Lee, Katy Ankenman,[...]. Science 2012
810
8

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
Sharon A Swanger, Wenjuan Chen, Gordon Wells, Pieter B Burger, Anel Tankovic, Subhrajit Bhattacharya, Katie L Strong, Chun Hu, Hirofumi Kusumoto, Jing Zhang,[...]. Am J Hum Genet 2016
92
8

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Sabine Endele, Georg Rosenberger, Kirsten Geider, Bernt Popp, Ceyhun Tamer, Irina Stefanova, Mathieu Milh, Fanny Kortüm, Angela Fritsch, Friederike K Pientka,[...]. Nat Genet 2010
321
8

NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease.
Pierre Paoletti, Camilla Bellone, Qiang Zhou. Nat Rev Neurosci 2013
8

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
8

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1.
Hae Yeon Park, Myungshin Kim, Woori Jang, Dae Hyun Jang. Ann Lab Med 2017
8
87

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Maria-Isabel Tejada, Jozef Gecz, Marie Shaw, Mark Corbett, Eric Haan, Elizabeth Thompson, Kathryn Friend,[...]. Hum Mutat 2015
108
8

Exome Pool-Seq in neurodevelopmental disorders.
Bernt Popp, Arif B Ekici, Christian T Thiel, Juliane Hoyer, Antje Wiesener, Cornelia Kraus, André Reis, Christiane Zweier. Eur J Hum Genet 2017
45
15

The phenotypic spectrum of Xia-Gibbs syndrome.
Yunyun Jiang, Michael F Wangler, Amy L McGuire, James R Lupski, Jennifer E Posey, Michael M Khayat, David R Murdock, Luis Sanchez-Pulido, Chris P Ponting, Fan Xia,[...]. Am J Med Genet A 2018
23
30

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.
K Dörre, M Olczak, Y Wada, P Sosicka, M Grüneberg, J Reunert, G Kurlemann, B Fiedler, S Biskup, K Hörtnagel,[...]. J Inherit Metab Dis 2015
55
12

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
Hirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka, Yoshihiro Maegaki, Kazuhiro Haginoya, Shuji Mizumoto, Mitsuhiro Kato, Nobuhiko Okamoto, Mizue Iai, Yukiko Kondo,[...]. Hum Mutat 2013
71
9

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Bobby G Ng, Kati J Buckingham, Kimiyo Raymond, Martin Kircher, Emily H Turner, Miao He, Joshua D Smith, Alexey Eroshkin, Marta Szybowska, Marie E Losfeld,[...]. Am J Hum Genet 2013
87
8

N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
Kun Yang, Ryan Huang, Haruhiko Fujihira, Tadashi Suzuki, Nan Yan. J Exp Med 2018
55
12

Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene.
Haruhiko Fujihira, Yuki Masahara-Negishi, Masaru Tamura, Chengcheng Huang, Yoichiro Harada, Shigeharu Wakana, Daisuke Takakura, Nana Kawasaki, Naoyuki Taniguchi, Gen Kondoh,[...]. PLoS Genet 2017
43
16

PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase.
T Suzuki, H Park, N M Hollingsworth, R Sternglanz, W J Lennarz. J Cell Biol 2000
165
6


COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas.
Maria Armentano, Shen-Ju Chou, Giulio Srubek Tomassy, Axel Leingärtner, Dennis D M O'Leary, Michèle Studer. Nat Neurosci 2007
157
6

COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth.
Maria Armentano, Alessandro Filosa, Gennaro Andolfi, Michèle Studer. Development 2006
67
8

NMDA receptor subunit mutations in neurodevelopmental disorders.
Nail Burnashev, Pierre Szepetowski. Curr Opin Pharmacol 2015
109
6

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K Ruzzo, Yi-Fan Lu, K Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi,[...]. Genet Med 2015
203
6

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Johannes R Lemke, Rik Hendrickx, Kirsten Geider, Bodo Laube, Michael Schwake, Robert J Harvey, Victoria M James, Alex Pepler, Isabelle Steiner, Konstanze Hörtnagel,[...]. Ann Neurol 2014
137
6

De novo mutations in moderate or severe intellectual disability.
Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo,[...]. PLoS Genet 2014
249
6

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Tyler Mark Pierson, Hongjie Yuan, Eric D Marsh, Karin Fuentes-Fajardo, David R Adams, Thomas Markello, Gretchen Golas, Dimitre R Simeonov, Conisha Holloman, Anel Tankovic,[...]. Ann Clin Transl Neurol 2014
151
6


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.