A citation-based method for searching scientific literature

Fedik Rahimov, Lucilene Arilho Ribeiro, Eziquiel de Miranda, Antonio Richieri-Costa, Jeffrey C Murray. Am J Med Genet A 2006
Times Cited: 43







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



Times Cited
  Times     Co-cited
Similarity


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
76

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
39

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
Jeffrey E Ming, Michelle E Kaupas, Erich Roessler, Han G Brunner, Mahin Golabi, Mustafa Tekin, Robert F Stratton, Eva Sujansky, Sherri J Bale, Maximilian Muenke. Hum Genet 2002
161
34

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
E Roessler, E Belloni, K Gaudenz, P Jay, P Berta, S W Scherer, L C Tsui, M Muenke. Nat Genet 1996
856
32

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
32

Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
232
30

Holoprosencephaly: clinical, anatomic, and molecular dimensions.
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
139
30


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
30

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
L Nanni, J E Ming, M Bocian, K Steinhaus, D W Bianchi, C Die-Smulders, A Giannotti, K Imaizumi, K L Jones, M D Campo,[...]. Hum Mol Genet 1999
263
27

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
S A Brown, D Warburton, L Y Brown, C Y Yu, E R Roeder, S Stengel-Rutkowski, R C Hennekam, M Muenke. Nat Genet 1998
369
27

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.
Christèle Dubourg, Leïla Lazaro, Laurent Pasquier, Claude Bendavid, Martine Blayau, Franck Le Duff, Marie-Renée Durou, Sylvie Odent, Véronique David. Hum Mutat 2004
116
27

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
K W Gripp, D Wotton, M C Edwards, E Roessler, L Ades, P Meinecke, A Richieri-Costa, E H Zackai, J Massagué, M Muenke,[...]. Nat Genet 2000
303
27

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
D E Wallis, E Roessler, U Hehr, L Nanni, T Wiltshire, A Richieri-Costa, G Gillessen-Kaesbach, E H Zackai, J Rommens, M Muenke. Nat Genet 1999
285
25

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Erich Roessler, Yong Ma, Maia V Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A Beachy, Maximilian Muenke. Hum Genet 2009
51
25

Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation.
H L Park, C Bai, K A Platt, M P Matise, A Beeghly, C C Hui, M Nakashima, A L Joyner. Development 2000
515
23

The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
159
23

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
25

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
June M de la Cruz, Richard N Bamford, Rebecca D Burdine, Erich Roessler, A James Barkovich, Dian Donnai, Alexander F Schier, Maximilian Muenke. Hum Genet 2002
81
20

Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly.
Wei Zhang, Jong-Sun Kang, Francesca Cole, Min-Jeong Yi, Robert S Krauss. Dev Cell 2006
195
20

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
Erich Roessler, Maia V Ouspenskaia, Jayaprakash D Karkera, Jorge I Vélez, Amy Kantipong, Felicitas Lacbawan, Peter Bowers, John W Belmont, Jeffrey A Towbin, Elizabeth Goldmuntz,[...]. Am J Hum Genet 2008
104
20

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.
Lucilene Arilho Ribeiro, Jeffrey C Murray, Antonio Richieri-Costa. Am J Med Genet A 2006
33
24


Analysis of genotype-phenotype correlations in human holoprosencephaly.
Benjamin D Solomon, Sandra Mercier, Jorge I Vélez, Daniel E Pineda-Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Veronique David, Sylvie Odent, Erich Roessler,[...]. Am J Med Genet C Semin Med Genet 2010
108
18

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.
Maisa Seppala, Michael J Depew, David C Martinelli, Chen-Ming Fan, Paul T Sharpe, Martyn T Cobourne. J Clin Invest 2007
99
16

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.
C Chiang, Y Litingtung, E Lee, K E Young, J L Corden, H Westphal, P A Beachy. Nature 1996
16

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Elisabeth Traiffort, Christèle Dubourg, Hélène Faure, Didier Rognan, Sylvie Odent, Marie-Renée Durou, Véronique David, Martial Ruat. J Biol Chem 2004
57
16

Phenotypic and molecular variability of the holoprosencephalic spectrum.
Leila Lazaro, Christéle Dubourg, Laurent Pasquier, Franck Le Duff, Martine Blayau, Marie-Renée Durou, Armelle Thomas de la Pintière, Céline Aguilella, Véronique David, Sylvie Odent. Am J Med Genet A 2004
55
16

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Erich Roessler, Wuhong Pei, Maia V Ouspenskaia, Jayaprakash D Karkera, Jorge Ivan Veléz, Sharmilla Banerjee-Basu, Gretchen Gibney, Philip J Lupo, Laura E Mitchell, Jeffrey A Towbin,[...]. Mol Genet Metab 2009
52
16

Functional analysis of mutations in TGIF associated with holoprosencephaly.
Kenia B El-Jaick, Shannon E Powers, Laurent Bartholin, Kenneth R Myers, Jin Hahn, Ieda M Orioli, Maia Ouspenskaia, Felicitas Lacbawan, Erich Roessler, David Wotton,[...]. Mol Genet Metab 2007
56
13

Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched.
Yong Ma, Alfrun Erkner, Ruoyu Gong, Shenqin Yao, Jussi Taipale, Konrad Basler, Philip A Beachy. Cell 2002
222
13

The cell surface membrane proteins Cdo and Boc are components and targets of the Hedgehog signaling pathway and feedback network in mice.
Toyoaki Tenzen, Benjamin L Allen, Francesca Cole, Jong-Sun Kang, Robert S Krauss, Andrew P McMahon. Dev Cell 2006
270
13


Zic2 regulates the kinetics of neurulation.
T Nagai, J Aruga, O Minowa, T Sugimoto, Y Ohno, T Noda, K Mikoshiba. Proc Natl Acad Sci U S A 2000
180
13

Intragenic deletion of Tgif causes defectsin brain development.
Chenzhong Kuang, Yan Xiao, Ling Yang, Qian Chen, Zhenzhen Wang, Simon J Conway, Yan Chen. Hum Mol Genet 2006
34
17


Holoprosencephaly: new models, new insights.
Robert S Krauss. Expert Rev Mol Med 2007
41
14

Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.
Xin Geng, Christina Speirs, Oleg Lagutin, Adi Inbal, Wei Liu, Lilianna Solnica-Krezel, Yongsu Jeong, Douglas J Epstein, Guillermo Oliver. Dev Cell 2008
124
13

Holoprosencephaly-like phenotype: clinical and genetic perspectives.
A Richieri-Costa, Lucilene Arilho Ribeiro. Am J Med Genet A 2006
21
28

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
F Lacbawan, B D Solomon, E Roessler, K El-Jaick, S Domené, J I Vélez, N Zhou, D Hadley, J Z Balog, R Long,[...]. J Med Genet 2009
67
13

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
Claude Bendavid, Lucie Rochard, Christèle Dubourg, Jonathan Seguin, Isabelle Gicquel, Laurent Pasquier, Jaqueline Vigneron, Annie Laquerrière, Pascale Marcorelles, Corinne Jeanne-Pasquier,[...]. Hum Mutat 2009
36
16

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Benjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J Clegg, Mauricio R Delgado, Kenneth Rosenbaum, Christèle Dubourg, Veronique David, Ann Haskins Olney, Lars-Erik Wehner,[...]. J Med Genet 2010
57
13

Hedgehog signaling is required for pituitary gland development.
M Treier, S O'Connell, A Gleiberman, J Price, D P Szeto, R Burgess, P T Chuang, A P McMahon, M G Rosenfeld. Development 2001
208
13

Genetic regulation of pituitary gland development in human and mouse.
Daniel Kelberman, Karine Rizzoti, Robin Lovell-Badge, Iain C A F Robinson, Mehul T Dattani. Endocr Rev 2009
248
13


A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
Sietske H G Kevelam, Jeske J T van Harssel, Bert van der Zwaag, Hubertus J M Smeets, Aimee D C Paulussen, Klaske D Lichtenbelt. Am J Med Genet A 2012
22
27

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
23

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
38
15

Teratogenesis of holoprosencephaly.
M Michael Cohen, Kohei Shiota. Am J Med Genet 2002
132
11



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.