A citation-based method for searching scientific literature

Erich Roessler, Ping Hu, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
Times Cited: 24







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



Times Cited
  Times     Co-cited
Similarity


The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
157
41

Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate.
Galen W Heyne, Cal G Melberg, Padydeh Doroodchi, Kia F Parins, Henry W Kietzman, Joshua L Everson, Lydia J Ansen-Wilson, Robert J Lipinski. PLoS One 2015
39
37

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Benjamin D Solomon, Kelly A Bear, Adrian Wyllie, Amelia A Keaton, Christele Dubourg, Veronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimee Paulussen,[...]. J Med Genet 2012
51
37

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
37

Modeling the complex etiology of holoprosencephaly in mice.
Mingi Hong, Robert S Krauss. Am J Med Genet C Semin Med Genet 2018
12
75


Gene-Environment Interactions and the Etiology of Birth Defects.
Robert S Krauss, Mingi Hong. Curr Top Dev Biol 2016
38
33

Recent advances in understanding inheritance of holoprosencephaly.
Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé. Am J Med Genet C Semin Med Genet 2018
22
36

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
237
29

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, Charlotte Mouden, Joëlle Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes,[...]. Hum Mutat 2016
38
29

Syndromes associated with holoprosencephaly.
Paul Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
25
29

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
107
29

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
843
29

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
Sungkook Hong, Ping Hu, Juliana Marino, Sophia B Hufnagel, Robert J Hopkin, Alma Toromanović, Antonio Richieri-Costa, Lucilene A Ribeiro-Bicudo, Paul Kruszka, Erich Roessler,[...]. Hum Mol Genet 2016
29
25

Ethanol itself is a holoprosencephaly-inducing teratogen.
Mingi Hong, Robert S Krauss. PLoS One 2017
22
27



The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.
Henry W Kietzman, Joshua L Everson, Kathleen K Sulik, Robert J Lipinski. PLoS One 2014
74
25

Non-genetic risk factors for holoprosencephaly.
Candice Y Johnson, Sonja A Rasmussen. Am J Med Genet C Semin Med Genet 2010
46
25

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier,[...]. J Med Genet 2013
50
20

Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
Gyu-Un Bae, Sabina Domené, Erich Roessler, Karen Schachter, Jong-Sun Kang, Maximilian Muenke, Robert S Krauss. Am J Hum Genet 2011
91
20

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
301
20

Pathogenesis of holoprosencephaly.
Xin Geng, Guillermo Oliver. J Clin Invest 2009
59
20


Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.
Sungkook Hong, Ping Hu, Erich Roessler, Tommy Hu, Maximilian Muenke. Hum Mol Genet 2018
11
45

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
20

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
259
20

Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.
Galen W Heyne, Joshua L Everson, Lydia J Ansen-Wilson, Cal G Melberg, Dustin M Fink, Kia F Parins, Padydeh Doroodchi, Caden M Ulschmid, Robert J Lipinski. Dis Model Mech 2016
25
20

Molecular testing in holoprosencephaly.
Paul Kruszka, Ariel F Martinez, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
11
45

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.
Emanuele Leoncini, Giovanni Baranello, Iêda M Orioli, Göran Annerén, Marian Bakker, Fabrizio Bianchi, Carol Bower, Mark A Canfield, Eduardo E Castilla, Guido Cocchi,[...]. Birth Defects Res A Clin Mol Teratol 2008
64
20

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Artem Kim, Clara Savary, Christèle Dubourg, Wilfrid Carré, Charlotte Mouden, Houda Hamdi-Rozé, Hélène Guyodo, Jerome Le Douce, Laurent Pasquier, Elisabeth Flori,[...]. Brain 2019
21
23

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.
Erich Roessler, Ping Hu, Juliana Marino, Sungkook Hong, Rachel Hart, Seth Berger, Ariel Martinez, Yu Abe, Paul Kruszka, James W Thomas,[...]. Hum Mutat 2018
16
31

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.
Michael K Cooper, Christopher A Wassif, Patrycja A Krakowiak, Jussi Taipale, Ruoyu Gong, Richard I Kelley, Forbes D Porter, Philip A Beachy. Nat Genet 2003
276
16

Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
223
16

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
38
16

Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.
Paul Kruszka, Rachel A Hart, Donald W Hadley, Maximilian Muenke, Mutaz B Habal. J Craniofac Surg 2015
11
36

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Aimée D C Paulussen, Constance T Schrander-Stumpel, Demis C J Tserpelis, Matteus K M Spee, Alexander P A Stegmann, Grazia M Mancini, Alice S Brooks, Margriet Collée, Anneke Maat-Kievit, Marleen E H Simon,[...]. Eur J Hum Genet 2010
32
16

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
Daniel E Pineda-Alvarez, Christèle Dubourg, Véronique David, Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
46
16

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
120
16

Epidemiology of holoprosencephaly: Prevalence and risk factors.
Iêda M Orioli, Eduardo E Castilla. Am J Med Genet C Semin Med Genet 2010
62
16

Zic2 mutation causes holoprosencephaly via disruption of NODAL signalling.
Rob Houtmeyers, Olive Tchouate Gainkam, Hannah A Glanville-Jones, Ben Van den Bosch, Anna Chappell, Kristen S Barratt, Jacob Souopgui, Sabine Tejpar, Ruth M Arkell. Hum Mol Genet 2016
23
17

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
190
16

Six3 dosage mediates the pathogenesis of holoprosencephaly.
Xin Geng, Sandra Acosta, Oleg Lagutin, Hyea Jin Gil, Guillermo Oliver. Development 2016
18
22

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
365
16

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
283
16

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.
Paul Kruszka, Seth I Berger, Karin Weiss, Joshua L Everson, Ariel F Martinez, Sungkook Hong, Kwame Anyane-Yeboa, Robert J Lipinski, Maximilian Muenke. Am J Hum Genet 2019
14
28

The insecticide synergist piperonyl butoxide inhibits hedgehog signaling: assessing chemical risks.
Jiangbo Wang, Jiuyi Lu, Robert A Mook, Min Zhang, Shengli Zhao, Larry S Barak, Jonathan H Freedman, H Kim Lyerly, Wei Chen. Toxicol Sci 2012
19
21

Inhibition of Hedgehog signaling by direct binding of cyclopamine to Smoothened.
James K Chen, Jussi Taipale, Michael K Cooper, Philip A Beachy. Genes Dev 2002
16

Gene-environment interactions in development and disease.
C Lovely, Mindy Rampersad, Yohaan Fernandes, Johann Eberhart. Wiley Interdiscip Rev Dev Biol 2017
16
25

Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine.
J Taipale, J K Chen, M K Cooper, B Wang, R K Mann, L Milenkovic, M P Scott, P A Beachy. Nature 2000
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.