A citation-based method for searching scientific literature

Andreas Halman, Alicia Oshlack. F1000Res 2020
Times Cited: 5







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



Times Cited
  Times     Co-cited
Similarity


Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Andrea M Oza, Marina T DiStefano, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti,[...]. Hum Mutat 2018
126
40

SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.
Paul Hager, Hans-Werner Mewes, Meino Rohlfs, Christoph Klein, Tim Jeske. PLoS Comput Biol 2020
8
40

Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation.
Sang-Yeon Lee, Kwangsic Joo, Jayoung Oh, Jin Hee Han, Hye-Rim Park, Seungmin Lee, Doo-Yi Oh, Se Joon Woo, Byung Yoon Choi. Clin Exp Otorhinolaryngol 2020
14
40

Genome-wide detection of short tandem repeat expansions by long-read sequencing.
Qian Liu, Yao Tong, Kai Wang. BMC Bioinformatics 2020
3
66

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder,[...]. Nat Commun 2019
41
40

Long-Read Sequencing Emerging in Medical Genetics.
Tuomo Mantere, Simone Kersten, Alexander Hoischen. Front Genet 2019
106
40

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Takeshi Mizuguchi, Kohei Hamanaka, Keiko Mori, Haruki Koike, Akihiro Hashiguchi, Hiroshi Takashima, Hiroshi Sugiyama,[...]. Nat Genet 2019
119
40

Repeat expansion diseases.
Henry Paulson. Handb Clin Neurol 2018
112
40

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa,[...]. Nat Commun 2019
31
40

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
André B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, Britt I Drögemöller, Mahmoud A Pouladi, René Leen, Koroboshka Brand-Arzamendi, Doreen Dobritzsch, Egor Dolzhenko, Michael A Eberle,[...]. N Engl J Med 2019
24
40

Detection of long repeat expansions from PCR-free whole-genome sequence data.
Egor Dolzhenko, Joke J F A van Vugt, Richard J Shaw, Mitchell A Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S Ajay, Vani Rajan, Bryan R Lajoie, Nathan H Johnson,[...]. Genome Res 2017
120
40

Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.
Gareth Highnam, Christopher Franck, Andy Martin, Calvin Stephens, Ashwin Puthige, David Mittelman. Nucleic Acids Res 2013
85
40

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.
Haibao Tang, Ewen F Kirkness, Christoph Lippert, William H Biggs, Martin Fabani, Ernesto Guzman, Smriti Ramakrishnan, Victor Lavrenko, Boyko Kakaradov, Claire Hou,[...]. Am J Hum Genet 2017
53
40

lobSTR: A short tandem repeat profiler for personal genomes.
Melissa Gymrek, David Golan, Saharon Rosset, Yaniv Erlich. Genome Res 2012
169
40

STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark Davis, Phillipa Lamont, Joshua S Clayton, Nigel G Laing,[...]. Genome Biol 2018
47
40

Genome-wide profiling of heritable and de novo STR variations.
Thomas Willems, Dina Zielinski, Jie Yuan, Assaf Gordon, Melissa Gymrek, Yaniv Erlich. Nat Methods 2017
73
40

Lmx1a is required for segregation of sensory epithelia and normal ear histogenesis and morphogenesis.
David H Nichols, Sarah Pauley, Israt Jahan, Kirk W Beisel, Kathleen J Millen, Bernd Fritzsch. Cell Tissue Res 2008
88
20

Interaction with ectopic cochlear crista sensory epithelium disrupts basal cochlear sensory epithelium development in Lmx1a mutant mice.
David H Nichols, Judith E Bouma, Benjamin J Kopecky, Israt Jahan, Kirk W Beisel, David Z Z He, Huizhan Liu, Bernd Fritzsch. Cell Tissue Res 2020
6
20


Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Mieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, Jaap Oostrik, Martijn A Huynen, Hanka Venselaar, Andy J Beynon, Judith van Gaalen, Vitória Piai, Nicol Voermans,[...]. Hum Genet 2018
14
20

Lmx1a and Lmx1b regulate mitochondrial functions and survival of adult midbrain dopaminergic neurons.
Hélène Doucet-Beaupré, Catherine Gilbert, Marcos Schaan Profes, Audrey Chabrat, Consiglia Pacelli, Nicolas Giguère, Véronique Rioux, Julien Charest, Qiaolin Deng, Ariadna Laguna,[...]. Proc Natl Acad Sci U S A 2016
32
20


Single-Cell Analysis Reveals a Close Relationship between Differentiating Dopamine and Subthalamic Nucleus Neuronal Lineages.
Nigel Kee, Nikolaos Volakakis, Agnete Kirkeby, Lina Dahl, Helena Storvall, Sara Nolbrant, Laura Lahti, Åsa K Björklund, Linda Gillberg, Eliza Joodmardi,[...]. Cell Stem Cell 2017
70
20

Lmx1a maintains proper neurogenic, sensory, and non-sensory domains in the mammalian inner ear.
Soo Kyung Koo, Jennifer K Hill, Chan Ho Hwang, Zheng Shi Lin, Kathleen J Millen, Doris K Wu. Dev Biol 2009
52
20


Shaping of inner ear sensory organs through antagonistic interactions between Notch signalling and Lmx1a.
Zoe F Mann, Héctor Gálvez, David Pedreno, Ziqi Chen, Elena Chrysostomou, Magdalena Żak, Miso Kang, Elachumee Canden, Nicolas Daudet. Elife 2017
16
20

Mutation analysis of LMX1B gene in nail-patella syndrome patients.
I McIntosh, S D Dreyer, M V Clough, J A Dunston, W Eyaid, C M Roig, T Montgomery, S Ala-Mello, I Kaitila, A Winterpacht,[...]. Am J Hum Genet 1998
111
20

Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects.
Georg Steffes, Beatriz Lorente-Cánovas, Selina Pearson, Rachael H Brooker, Sarah Spiden, Amy E Kiernan, Jean-Louis Guénet, Karen P Steel. PLoS One 2012
16
20

LMX1B transactivation and expression in nail-patella syndrome.
S D Dreyer, R Morello, M S German, B Zabel, A Winterpacht, G P Lunstrum, W A Horton, K C Oberg, B Lee. Hum Mol Genet 2000
70
20

Functional characterization of LMX1B mutations associated with nail-patella syndrome.
Utako Sato, Sachiko Kitanaka, Takashi Sekine, Shori Takahashi, Akira Ashida, Takashi Igarashi. Pediatr Res 2005
33
20


A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.
Isabelle Schrauwen, Imen Chakchouk, Khurram Liaqat, Abid Jan, Abdul Nasir, Shabir Hussain, Deborah A Nickerson, Michael J Bamshad, Asmat Ullah, Wasim Ahmad,[...]. Hum Genet 2018
7
20

Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.
Nayoung K D Kim, Ah Reum Kim, Kyung Tae Park, So Young Kim, Min Young Kim, Jae-Yong Nam, Se Joon Woo, Seung-Ha Oh, Woong-Yang Park, Byung Yoon Choi. Genet Med 2015
30
20

Cloning, expression and genomic structure of human LMX1A, and variant screening in Pima Indians.
Farook Thameem, Johanna K Wolford, Juehu Wang, Michael S German, Clifton Bogardus, Michal Prochazka. Gene 2002
12
20

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.
Clémence Fournier, Mathieu Barbier, Agnès Camuzat, Vincent Anquetil, Serena Lattante, Fabienne Clot, Cécile Cazeneuve, Daisy Rinaldi, Philippe Couratier, Vincent Deramecourt,[...]. Neurobiol Aging 2019
22
20

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.
Eric D Wieben, Ross A Aleff, Nirubol Tosakulwong, Malinda L Butz, W Edward Highsmith, Albert O Edwards, Keith H Baratz. PLoS One 2012
133
20

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Sarah J Beecroft, Andrea Cortese, Roisin Sullivan, Wai Yan Yau, Zoe Dyer, Teddy Y Wu, Eoin Mulroy, Luciana Pelosi, Miriam Rodrigues, Rachael Taylor,[...]. Brain 2020
7
20

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara L M Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle,[...]. Am J Hum Genet 2019
55
20

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Masaki Okubo, Hiroshi Doi, Ryoko Fukai, Atsushi Fujita, Satomi Mitsuhashi, Shunta Hashiguchi, Hitaru Kishida, Naohisa Ueda, Keisuke Morihara, Akihiro Ogasawara,[...]. Ann Neurol 2019
39
20

Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.
A Zeman, J Stone, M Porteous, E Burns, L Barron, J Warner. J Neurol Neurosurg Psychiatry 2004
30
20

Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.
Haruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, Satoko Miyatake, Kazutaka Katoh, Martin C Frith, Tetsuya Asano, Yosuke Kudo, Takuya Ikeda, Shun Kubota,[...]. J Hum Genet 2020
12
20

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
R J Hagerman, M Leehey, W Heinrichs, F Tassone, R Wilson, J Hills, J Grigsby, B Gage, P J Hagerman. Neurology 2001
656
20



SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.
K Nakamura, S Y Jeong, T Uchihara, M Anno, K Nagashima, T Nagashima, S Ikeda, S Tsuji, I Kanazawa. Hum Mol Genet 2001
456
20

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
Masashi Ogasawara, Aritoshi Iida, Theerawat Kumutpongpanich, Ayami Ozaki, Yasushi Oya, Hirofumi Konishi, Akinori Nakamura, Ryuta Abe, Hiroshi Takai, Ritsuko Hanajima,[...]. Acta Neuropathol Commun 2020
13
20

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.
B Brais, J P Bouchard, Y G Xie, D L Rochefort, N Chrétien, F M Tomé, R G Lafrenière, J M Rommens, E Uyama, O Nohira,[...]. Nat Genet 1998
559
20

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.
Alexandra N Khristich, Sergei M Mirkin. J Biol Chem 2020
41
20

Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat.
T Ikeuchi, R Koide, H Tanaka, O Onodera, S Igarashi, H Takahashi, R Kondo, A Ishikawa, A Tomoda, T Miike. Ann Neurol 1995
140
20

Finding and extending ancient simple sequence repeat-derived regions in the human genome.
Jonathan A Shortt, Robert P Ruggiero, Corey Cox, Aaron C Wacholder, David D Pollock. Mob DNA 2020
5
20


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.