A citation-based method for searching scientific literature

Cameron Elward, Janet Berg, John M Oberlin, Luis Rohena. Clin Case Rep 2020
Times Cited: 1







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



Times Cited
  Times     Co-cited
Similarity


A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.
Erich Roessler, Alexandre N Ermilov, Dorothy Katherine Grange, Aiqin Wang, Marina Grachtchouk, Andrzej A Dlugosz, Maximilian Muenke. Hum Mol Genet 2005
127
100

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Marcela M França, Alexander A L Jorge, Luciani R S Carvalho, Everlayny F Costalonga, Aline P Otto, Fernanda A Correa, Berenice B Mendonca, Ivo J P Arnhold. Clin Endocrinol (Oxf) 2013
26
100

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.
L C Gregory, C Gaston-Massuet, C L Andoniadou, G Carreno, E A Webb, D Kelberman, M J McCabe, L Panagiotakopoulos, J W Saldanha, H A Spoudeas,[...]. Clin Endocrinol (Oxf) 2015
19
100

Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree.
Peiqi Meng, Huaxiang Zhao, Wenbin Huang, Yunfan Zhang, Wenjie Zhong, Mengqi Zhang, Peizeng Jia, Zhibo Zhou, Gulibaha Maimaitili, Feng Chen,[...]. Mol Genet Genomic Med 2019
5
100

GLI2 mutations as a cause of hypopituitarism.
Laurie E Cohen. Pediatr Endocrinol Rev 2012
8
100

The Deciphering Developmental Disorders (DDD) study.
Helen V Firth, Caroline F Wright. Dev Med Child Neurol 2011
99
100

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
K Vaaralahti, T Raivio, R Koivu, L Valanne, E-M Laitinen, J Tommiska. Mol Syndromol 2012
17
100

The mutational constraint spectrum quantified from variation in 141,456 humans.
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,[...]. Nature 2020
100

Clinical findings in patients with GLI2 mutations--phenotypic variability.
C D P Bertolacini, L A Ribeiro-Bicudo, A Petrin, A Richieri-Costa, J C Murray. Clin Genet 2012
42
100

Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.
Idske C L Kremer Hovinga, Jacques C Giltay, Saskia N van der Crabben, Anja Steyls, Hetty J van der Kamp, Aimee D C Paulussen. Clin Endocrinol (Oxf) 2018
6
100

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.
J Aaron Crapster, Louanne Hudgins, James K Chen, Natalia Gomez-Ospina. Am J Med Genet A 2017
6
100

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
Marcela M França, Alexander A L Jorge, Luciani R S Carvalho, Everlayny F Costalonga, Gabriela A Vasques, Claudia C Leite, Berenice B Mendonca, Ivo J P Arnhold. J Clin Endocrinol Metab 2010
73
100

High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly.
B D Solomon, D E Pineda-Alvarez, A L Gropman, M J Willis, D W Hadley, M Muenke. Mol Syndromol 2012
12
100

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
Erich Roessler, Yang-Zhu Du, Jose L Mullor, Esther Casas, William P Allen, Gabriele Gillessen-Kaesbach, Elizabeth R Roeder, Jeffrey E Ming, Ariel Ruiz i Altaba, Maximilian Muenke. Proc Natl Acad Sci U S A 2003
238
100

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene
Meliha Demiral, Hüseyin Demirbilek, Edip Unal, Ceren Damla Durmaz, Serdar Ceylaner, Mehmet Nuri Özbek. J Clin Res Pediatr Endocrinol 2020
3
100

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
G M C Flemming, J Klammt, G Ambler, Y Bao, W F Blum, C Cowell, K Donaghue, N Howard, A Kumar, J Sanchez,[...]. J Clin Endocrinol Metab 2013
26
100

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Adrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu, Patricia Soto-Bielicka, Antonio Torres, Purificación Marín, Elena Aller, Leyli Şentürk, Ömer Berköz, Mehmet Yıldıran,[...]. Hum Mutat 2020
5
100


Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Sebastian Alexis Vishnopolska, Maria Florencia Mercogliano, Maria Andrea Camilletti, Amanda Helen Mortensen, Debora Braslavsky, Ana Keselman, Ignacio Bergadá, Federico Olivieri, Lucas Miranda, Roxana Marino,[...]. J Clin Endocrinol Metab 2021
3
100

Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly.
Maryam Yousaf, Asmat Ullah, Zahid Azeem, Ayesha Isani Majeed, Muhammad Iqbal Memon, Tahseen Ghous, Sulman Basit, Wasim Ahmad. Congenit Anom (Kyoto) 2020
4
100

A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.
Toshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi,[...]. CEN Case Rep 2018
5
100

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
Kelly A Bear, Benjamin D Solomon, Sonir Antonini, Ivo J P Arnhold, Marcela M França, Erica H Gerkes, Dorothy K Grange, Donald W Hadley, Jarmo Jääskeläinen, Sabrina S Paulo,[...]. J Med Genet 2014
40
100

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey. PLoS One 2020
7
100

New insights into genotype-phenotype correlation for GLI3 mutations.
Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne-Lise Delezoide, Chloé Quélin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin,[...]. Eur J Hum Genet 2015
57
100

A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.
Álvaro Martín-Rivada, Francisco Javier Rodríguez-Contreras, Mª Teresa Muñoz-Calvo, María Güemes, Isabel González-Casado, Jaime Sánchez Del Pozo, Ángel Campos-Barros, Jesús Argente. Growth Horm IGF Res 2019
3
100


[Where is the boundary between diagnostics and research?].
Gunnar Houge. Tidsskr Nor Laegeforen 2015
5
100

Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
Philippe Debeer, H Peeters, S Driess, L De Smet, K Freese, G Matthijs, D Bornholdt, K Devriendt, K-H Grzeschik, J-P Fryns,[...]. Am J Med Genet A 2003
26
100

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
Fedik Rahimov, Lucilene Arilho Ribeiro, Eziquiel de Miranda, Antonio Richieri-Costa, Jeffrey C Murray. Am J Med Genet A 2006
43
100

Highly accurate protein structure prediction for the human proteome.
Kathryn Tunyasuvunakool, Jonas Adler, Zachary Wu, Tim Green, Michal Zielinski, Augustin Žídek, Alex Bridgland, Andrew Cowie, Clemens Meyer, Agata Laydon,[...]. Nature 2021
398
100


Role of GLI2 in hypopituitarism phenotype.
Ivo J P Arnhold, Marcela M França, Luciani R Carvalho, Berenice B Mendonca, Alexander A L Jorge. J Mol Endocrinol 2015
39
100

Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
Deepak Babu, Antonella Fanelli, Simona Mellone, Ranjith Muniswamy, Malgorzata Wasniewska, Flavia Prodam, Antonella Petri, Simonetta Bellone, Maria Carolina Salerno, Mara Giordano. Clin Endocrinol (Oxf) 2019
10
100

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
163
100

Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly.
Melitza S M Elizabeth, Annemieke J M H Verkerk, Anita C S Hokken-Koelega, Joost A M Verlouw, Jesús Argente, Roland Pfaeffle, Theo J Visser, Robin P Peeters, Laura C G De Graaff. Growth Horm IGF Res 2020
4
100


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.