Cameron Elward, Janet Berg, John M Oberlin, Luis Rohena. Clin Case Rep 2020
Times Cited: 1
Times Cited: 1
List of co-cited articles
articles co-cited >1
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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
Erich Roessler, Alexandre N Ermilov, Dorothy Katherine Grange, Aiqin Wang, Marina Grachtchouk, Andrzej A Dlugosz, Maximilian Muenke. Hum Mol Genet 2005
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
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
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
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
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
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
100
The Deciphering Developmental Disorders (DDD) study.
Helen V Firth, Caroline F Wright. Dev Med Child Neurol 2011
Helen V Firth, Caroline F Wright. Dev Med Child Neurol 2011
100
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.
K Vaaralahti, T Raivio, R Koivu, L Valanne, E-M Laitinen, J Tommiska. Mol Syndromol 2012
K Vaaralahti, T Raivio, R Koivu, L Valanne, E-M Laitinen, J Tommiska. Mol Syndromol 2012
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
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
C D P Bertolacini, L A Ribeiro-Bicudo, A Petrin, A Richieri-Costa, J C Murray. Clin Genet 2012
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
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
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
J Aaron Crapster, Louanne Hudgins, James K Chen, Natalia Gomez-Ospina. Am J Med Genet A 2017
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
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
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
B D Solomon, D E Pineda-Alvarez, A L Gropman, M J Willis, D W Hadley, M Muenke. Mol Syndromol 2012
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
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
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
Meliha Demiral, Hüseyin Demirbilek, Edip Unal, Ceren Damla Durmaz, Serdar Ceylaner, Mehmet Nuri Özbek. J Clin Res Pediatr Endocrinol 2020
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
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
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
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
100
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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
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
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
Maryam Yousaf, Asmat Ullah, Zahid Azeem, Ayesha Isani Majeed, Muhammad Iqbal Memon, Tahseen Ghous, Sulman Basit, Wasim Ahmad. Congenit Anom (Kyoto) 2020
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
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
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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
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
100
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey. PLoS One 2020
Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey. PLoS One 2020
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
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
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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
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
100
Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.
H S Heussler, M Suri, I D Young, M Muenke. Arch Dis Child 2002
H S Heussler, M Suri, I D Young, M Muenke. Arch Dis Child 2002
100
[Where is the boundary between diagnostics and research?].
Gunnar Houge. Tidsskr Nor Laegeforen 2015
Gunnar Houge. Tidsskr Nor Laegeforen 2015
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
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
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
Fedik Rahimov, Lucilene Arilho Ribeiro, Eziquiel de Miranda, Antonio Richieri-Costa, Jeffrey C Murray. Am J Med Genet A 2006
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
Kathryn Tunyasuvunakool, Jonas Adler, Zachary Wu, Tim Green, Michal Zielinski, Augustin Žídek, Alex Bridgland, Andrew Cowie, Clemens Meyer, Agata Laydon,[...]. Nature 2021
100
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.
E Elson, R Perveen, D Donnai, S Wall, G C M Black. J Med Genet 2002
E Elson, R Perveen, D Donnai, S Wall, G C M Black. J Med Genet 2002
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
Ivo J P Arnhold, Marcela M França, Luciani R Carvalho, Berenice B Mendonca, Alexander A L Jorge. J Mol Endocrinol 2015
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
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
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
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
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
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
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.