A citation-based method for searching scientific literature

Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé. Am J Med Genet C Semin Med Genet 2018
Times Cited: 22







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



Times Cited
  Times     Co-cited
Similarity


New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo-Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid,[...]. J Med Genet 2011
76
50

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
47

Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
223
36

Holoprosencephaly in the genomics era.
Erich Roessler, Ping Hu, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
24
36

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
31

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
31

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
31

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
C Mouden, C Dubourg, W Carré, S Rose, C Quelin, L Akloul, H Hamdi-Rozé, G Viot, H Salhi, P Darnault,[...]. Clin Genet 2016
27
27

The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
157
27

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

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
22

Epidemiology of holoprosencephaly: Prevalence and risk factors.
Iêda M Orioli, Eduardo E Castilla. Am J Med Genet C Semin Med Genet 2010
62
22

Holoprosencephaly: recommendations for diagnosis and management.
Emily F Kauvar, Maximilian Muenke. Curr Opin Pediatr 2010
28
22

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
22



Modeling the complex etiology of holoprosencephaly in mice.
Mingi Hong, Robert S Krauss. Am J Med Genet C Semin Med Genet 2018
12
41

LRP2 is an auxiliary SHH receptor required to condition the forebrain ventral midline for inductive signals.
Annabel Christ, Anna Christa, Esther Kur, Oleg Lioubinski, Sebastian Bachmann, Thomas E Willnow, Annette Hammes. Dev Cell 2012
70
18

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
Francesc R Garcia-Gonzalo, Kevin C Corbit, María Salomé Sirerol-Piquer, Gokul Ramaswami, Edgar A Otto, Thomas R Noriega, Allen D Seol, Jon F Robinson, Christopher L Bennett, Dragana J Josifova,[...]. Nat Genet 2011
413
18

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.
Charlotte Mouden, Marie de Tayrac, Christèle Dubourg, Sophie Rose, Wilfrid Carré, Houda Hamdi-Rozé, Marie-Claude Babron, Linda Akloul, Bénédicte Héron-Longe, Sylvie Odent,[...]. PLoS One 2015
19
21

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
18

Holoprosencephaly: clinical, anatomic, and molecular dimensions.
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
139
18

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
18

Pathogenesis of holoprosencephaly.
Xin Geng, Guillermo Oliver. J Clin Invest 2009
59
18

Cohesin complex-associated holoprosencephaly.
Paul Kruszka, Seth I Berger, Valentina Casa, Mike R Dekker, Jenna Gaesser, Karin Weiss, Ariel F Martinez, David R Murdock, Raymond J Louie, Eloise J Prijoles,[...]. Brain 2019
21
19

Syndromes associated with holoprosencephaly.
Paul Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
25
18

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
Mark J McCabe, Carles Gaston-Massuet, Vaitsa Tziaferi, Louise C Gregory, Kyriaki S Alatzoglou, Massimo Signore, Eduardo Puelles, Dianne Gerrelli, I Sadaf Farooqi, Jamal Raza,[...]. J Clin Endocrinol Metab 2011
74
18


Teratogenesis of holoprosencephaly.
M Michael Cohen, Kohei Shiota. Am J Med Genet 2002
131
18

Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study.
Eric A Miller, Sonja A Rasmussen, Anna Maria Siega-Riz, Jaime L Frías, Margaret A Honein. Am J Med Genet C Semin Med Genet 2010
43
18

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
25

Non-genetic risk factors for holoprosencephaly.
Candice Y Johnson, Sonja A Rasmussen. Am J Med Genet C Semin Med Genet 2010
46
18

BOC is a modifier gene in holoprosencephaly.
Mingi Hong, Kshitij Srivastava, Sungjin Kim, Benjamin L Allen, Daniel J Leahy, Ping Hu, Erich Roessler, Robert S Krauss, Maximilian Muenke. Hum Mutat 2017
17
17

TCTN3 mutations cause Mohr-Majewski syndrome.
Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Loeuillet, Katarzyna Szymanska, Frédérique Jossic,[...]. Am J Hum Genet 2012
84
13

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
13

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.
Sandra Mercier, Véronique David, Leslie Ratié, Isabelle Gicquel, Sylvie Odent, Valérie Dupé. Dis Model Mech 2013
16
18

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
13

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

Genesis of teratogen-induced holoprosencephaly in mice.
Robert J Lipinski, Elizabeth A Godin, Shonagh K O'leary-Moore, Scott E Parnell, Kathleen K Sulik. Am J Med Genet C Semin Med Genet 2010
35
13

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
51
13

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
13

Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies.
J S Hahn, P D Barnes, N J Clegg, E E Stashinko. AJNR Am J Neuroradiol 2010
33
13

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
13

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
13

Genetics of ventral forebrain development and holoprosencephaly.
M Muenke, P A Beachy. Curr Opin Genet Dev 2000
199
13

STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Naseebullah Kakar, Jamil Ahmad, Deborah J Morris-Rosendahl, Janine Altmüller, Katrin Friedrich, Gotthold Barbi, Peter Nürnberg, Christian Kubisch, William B Dobyns, Guntram Borck. Hum Genet 2015
22
13

Primary Cilia and Mammalian Hedgehog Signaling.
Fiona Bangs, Kathryn V Anderson. Cold Spring Harb Perspect Biol 2017
242
13


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
27

Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Thomas C Winter, Anne M Kennedy, Paula J Woodward. Radiographics 2015
43
13


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.