A citation-based method for searching scientific literature

Patricia L Hall, Christina Lam, John J Alexander, Ghazia Asif, Gerard T Berry, Carlos Ferreira, Hudson H Freeze, William A Gahl, Kim K Nickander, Jon D Sharer, Caroline M Watson, Lynne Wolfe, Kimiyo M Raymond. Mol Genet Metab 2018
Times Cited: 16







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



Times Cited
  Times     Co-cited
Similarity


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
74
75

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
129
62

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
289
50


Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Hanneke A Haijes, Monique G M de Sain-van der Velden, Hubertus C M T Prinsen, Anke P Willems, Maria van der Ham, Johan Gerrits, Madeline H Couse, Jan M Friedman, Clara D M van Karnebeek, Kathryn A Selby,[...]. Mol Genet Metab 2019
14
50

The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions.
Tadashi Suzuki, Chengcheng Huang, Haruhiko Fujihira. Gene 2016
60
37

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
37

Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency.
Britt J van Keulen, Joost Rotteveel, Martijn J J Finken. Physiol Rep 2019
16
37


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
68
31


NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Patryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska-Świątkowska, Aldona Wierzbicka-Rucińska, Anna Tylki-Szymańska. JIMD Rep 2020
11
45

Mitochondrial function requires NGLY1.
Jianping Kong, Min Peng, Julian Ostrovsky, Young Joon Kwon, Olga Oretsky, Elizabeth M McCormick, Miao He, Yair Argon, Marni J Falk. Mitochondrion 2018
30
31

Inhibition of NGLY1 Inactivates the Transcription Factor Nrf1 and Potentiates Proteasome Inhibitor Cytotoxicity.
Frederick M Tomlin, Ulla I M Gerling-Driessen, Yi-Chang Liu, Ryan A Flynn, Janakiram R Vangala, Christian S Lentz, Sandra Clauder-Muenster, Petra Jakob, William F Mueller, Diana Ordoñez-Rueda,[...]. ACS Cent Sci 2017
83
31

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
25

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
27
25


Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Daan M Panneman, Saskia B Wortmann, Charlotte A Haaxma, Peter M van Hasselt, Nicole I Wolf, Yvonne Hendriks, Benno Küsters, Sjenet van Emst-de Vries, Els van de Westerlo, Werner J H Koopman,[...]. Clin Genet 2020
12
33


NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar. JIMD Rep 2020
12
33

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
Bobby G Ng, Lynne A Wolfe, Mie Ichikawa, Thomas Markello, Miao He, Cynthia J Tifft, William A Gahl, Hudson H Freeze. Hum Mol Genet 2015
48
18

Abnormal glycosylation in Joubert syndrome type 10.
Megan S Kane, Mariska Davids, Michelle R Bond, Christopher J Adams, Megan E Grout, Ian G Phelps, Diana R O'Day, Jennifer C Dempsey, Xeuli Li, Gretchen Golas,[...]. Cilia 2017
11
27

Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases.
Baoyun Xia, Ghazia Asif, Leonard Arthur, Muhammad A Pervaiz, Xueli Li, Renpeng Liu, Richard D Cummings, Miao He. Clin Chem 2013
43
18

Perspectives on Glycosylation and Its Congenital Disorders.
Bobby G Ng, Hudson H Freeze. Trends Genet 2018
113
18

Identification of peptide:N-glycanase activity in mammalian-derived cultured cells.
T Suzuki, A Seko, K Kitajima, Y Inoue, S Inoue. Biochem Biophys Res Commun 1993
81
18

Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1.
Antonio Galeone, Seung Yeop Han, Chengcheng Huang, Akira Hosomi, Tadashi Suzuki, Hamed Jafar-Nejad. Elife 2017
24
18

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
44
18


Novel genetic causes for cerebral visual impairment.
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,[...]. Eur J Hum Genet 2016
87
18

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
167
18

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.
Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan, ZhongqinJin. BMC Med Genet 2020
8
37

N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
Kun Yang, Ryan Huang, Haruhiko Fujihira, Tadashi Suzuki, Nan Yan. J Exp Med 2018
59
18

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
Izabel Maryalexandra Rios-Flores, Miguel Ángel Bonal-Pérez, Abril Castellanos-González, Ezequiel Velez-Gómez, Aida M Bertoli-Avella, Lucina Bobadilla-Morales, Christian Peña-Padilla, Valentina Appendini-Andrade, Alfredo Corona-Rivera, Ivón Romero-Valenzuela,[...]. Eur J Med Genet 2020
7
42

Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
Makoto Asahina, Reiko Fujinawa, Sayuri Nakamura, Kotaro Yokoyama, Ryuichi Tozawa, Tadashi Suzuki. Hum Mol Genet 2020
18
18

Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Makoto Asahina, Reiko Fujinawa, Hiroto Hirayama, Ryuichi Tozawa, Yasushi Kajii, Tadashi Suzuki. Mol Brain 2021
7
42

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).
Christina T Thiesler, Samanta Cajic, Dirk Hoffmann, Christian Thiel, Laura van Diepen, René Hennig, Malte Sgodda, Robert Weiβmann, Udo Reichl, Doris Steinemann,[...]. Mol Cell Proteomics 2016
31
12

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
William A Gahl, Thomas C Markello, Camilo Toro, Karin Fuentes Fajardo, Murat Sincan, Fred Gill, Hannah Carlson-Donohoe, Andrea Gropman, Tyler Mark Pierson, Gretchen Golas,[...]. Genet Med 2012
185
12

A crucial role for polysialic acid in developmental interneuron migration and the establishment of interneuron densities in the mouse prefrontal cortex.
Tim Kröcher, Iris Röckle, Ute Diederichs, Birgit Weinhold, Hannelore Burkhardt, Yuchio Yanagawa, Rita Gerardy-Schahn, Herbert Hildebrandt. Development 2014
21
12

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Timothy Gall, Elise Valkanas, Christofer Bello, Thomas Markello, Christopher Adams, William P Bone, Alexander J Brandt, Jennifer M Brazill, Lynn Carmichael, Mariska Davids,[...]. Front Med (Lausanne) 2017
15
13

Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation.
Baoyun Xia, Wenyue Zhang, Xueli Li, Rong Jiang, Tisa Harper, Renpeng Liu, Richard D Cummings, Miao He. Anal Biochem 2013
54
12

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.
Mariska Davids, Megan S Kane, Miao He, Lynne A Wolfe, Xueli Li, Mohd A Raihan, Katherine R Chao, William P Bone, Cornelius F Boerkoel, William A Gahl,[...]. J Med Genet 2016
20
12

Ofd1, a human disease gene, regulates the length and distal structure of centrioles.
Veena Singla, Miriam Romaguera-Ros, Jose Manuel Garcia-Verdugo, Jeremy F Reiter. Dev Cell 2010
179
12

Sialyltransferase regulates nervous system function in Drosophila.
Elena Repnikova, Kate Koles, Michiko Nakamura, Jared Pitts, Haiwen Li, Apoorva Ambavane, Mark J Zoran, Vladislav M Panin. J Neurosci 2010
51
12


Structural and mutational studies on the importance of oligosaccharide binding for the activity of yeast PNGase.
Gang Zhao, Guangtao Li, Xiaoke Zhou, Ichiro Matsuo, Yukishige Ito, Tadashi Suzuki, William J Lennarz, Hermann Schindelin. Glycobiology 2009
20
12

The Neurospora peptide:N-glycanase ortholog PNG1 is essential for cell polarity despite its lack of enzymatic activity.
Sabine Maerz, Yoko Funakoshi, Yuki Negishi, Tadashi Suzuki, Stephan Seiler. J Biol Chem 2010
38
12



Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Haruhiko Fujihira, Yuki Masahara-Negishi, Yoshihiro Akimoto, Hiroto Hirayama, Hyeon-Cheol Lee, Benjamin A Story, William F Mueller, Petra Jakob, Sandra Clauder-Münster, Lars M Steinmetz,[...]. Biochim Biophys Acta Mol Basis Dis 2020
12
16



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.