A citation-based method for searching scientific literature

C Mouden, C Dubourg, W Carré, S Rose, C Quelin, L Akloul, H Hamdi-Rozé, G Viot, H Salhi, P Darnault, S Odent, V Dupé, V David. Clin Genet 2016
Times Cited: 27







List of co-cited articles
244 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
51

The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
157
37

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
37


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
47

NOTCH, a new signaling pathway implicated in holoprosencephaly.
Valérie Dupé, Lucie Rochard, Sandra Mercier, Yann Le Pétillon, Isabelle Gicquel, Claude Bendavid, Georges Bourrouillou, Usha Kini, Christel Thauvin-Robinet, Timothy P Bohan,[...]. Hum Mol Genet 2011
31
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

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
Daniel E Pineda-Alvarez, Erich Roessler, Ping Hu, Kshitij Srivastava, Benjamin D Solomon, C Evan Siple, Chen-Ming Fan, Maximilian Muenke. Hum Genet 2012
40
25

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
25

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

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
41

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

Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
223
22

The middle interhemispheric variant of holoprosencephaly.
Erin M Simon, Robert F Hevner, Joseph D Pinter, Nancy J Clegg, Mauricio Delgado, Stephen L Kinsman, Jin S Hahn, A James Barkovich. AJNR Am J Neuroradiol 2002
96
22

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
50
22

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
22



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
159
22

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

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Erich Roessler, Kenia B El-Jaick, Christèle Dubourg, Jorge I Vélez, Benjamin D Solomon, Daniel E Pineda-Alvarez, Felicitas Lacbawan, Nan Zhou, Maia Ouspenskaia, Aimée Paulussen,[...]. Hum Mutat 2009
62
22

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
27

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
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
65
18

Holoprosencephaly: An update on cytogenetic abnormalities.
Claude Bendavid, Valérie Dupé, Lucie Rochard, Isabelle Gicquel, Christèle Dubourg, Véronique David. Am J Med Genet C Semin Med Genet 2010
36
18

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
18

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
31

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
18

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
21

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
18

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
18

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
18

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Erich Roessler, Felicitas Lacbawan, Christèle Dubourg, Aimee Paulussen, Jos Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia Ouspenskaia, Sherri Bale,[...]. Hum Mutat 2009
49
18

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

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
22

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
18

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
14

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
14

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
14

Neuropathology of holoprosencephaly.
Pascale Marcorelles, Annie Laquerriere. Am J Med Genet C Semin Med Genet 2010
34
14

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.
R F Arauz, B D Solomon, D E Pineda-Alvarez, A L Gropman, J A Parsons, E Roessler, M Muenke. Mol Syndromol 2010
38
14

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
14


Segregation analysis in nonsyndromic holoprosencephaly.
S Odent, B Le Marec, A Munnich, M Le Merrer, C Bonaïti-Pellié. Am J Med Genet 1998
43
14

Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype.
A J Lewis, E M Simon, A J Barkovich, N J Clegg, M R Delgado, E Levey, J S Hahn. Neurology 2002
64
14


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
14

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

Pathogenesis of holoprosencephaly.
Xin Geng, Guillermo Oliver. J Clin Invest 2009
59
14

Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function.
Maisa Seppala, Guilherme M Xavier, Chen-Ming Fan, Martyn T Cobourne. Biol Open 2014
19
21


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.