A citation-based method for searching scientific literature

Jill A Rosenfeld, Blake C Ballif, Donna M Martin, Arthur S Aylsworth, Bassem A Bejjani, Beth S Torchia, Lisa G Shaffer. Hum Genet 2010
Times Cited: 49







List of co-cited articles
373 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
236
30

The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
155
30


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
24

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
35
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
841
24

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
20

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
20

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
18

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

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
17

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
21

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

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
16

Dose-dependent functions of Fgf8 in regulating telencephalic patterning centers.
Elaine E Storm, Sonia Garel, Ugo Borello, Jean M Hebert, Salvador Martinez, Susan K McConnell, Gail R Martin, John L R Rubenstein. Development 2006
263
16

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
90
16

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
68
16

LRP2/megalin is required for patterning of the ventral telencephalon.
Robert Spoelgen, Annette Hammes, Uwe Anzenberger, Dietmar Zechner, Olav M Andersen, Boris Jerchow, Thomas E Willnow. Development 2005
127
16

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Sibel Kantarci, Lihadh Al-Gazali, R Sean Hill, Dian Donnai, Graeme C M Black, Eric Bieth, Nicolas Chassaing, Didier Lacombe, Koen Devriendt, Ahmad Teebi,[...]. Nat Genet 2007
203
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
14

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
158
14

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
35
20

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
50
14

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
14

Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation.
Jin S Hahn, Patrick D Barnes. Am J Med Genet C Semin Med Genet 2010
93
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
300
14

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
14

Defective forebrain development in mice lacking gp330/megalin.
T E Willnow, J Hilpert, S A Armstrong, A Rohlmann, R E Hammer, D K Burns, J Herz. Proc Natl Acad Sci U S A 1996
395
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
120
12

Murine models of holoprosencephaly.
Karen A Schachter, Robert S Krauss. Curr Top Dev Biol 2008
36
16

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

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
13

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
115
12

A novel SIX3 mutation segregates with holoprosencephaly in a large family.
Benjamin D Solomon, Felicitas Lacbawan, Mahim Jain, Sabina Domené, Erich Roessler, Cynthia Moore, William B Dobyns, Maximilian Muenke. Am J Med Genet A 2009
30
20

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

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.
Lucilene Arilho Ribeiro, Rodrigo Gonçalves Quiezi, Adriana Nascimento, Claudia Pereira Bertolacini, Antonio Richieri-Costa. Am J Med Genet A 2010
39
15



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
30
20

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
39
15

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
15

Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.
Nicholas Warr, Nicola Powles-Glover, Anna Chappell, Joan Robson, Dominic Norris, Ruth M Arkell. Hum Mol Genet 2008
68
10

Holoprosencephaly due to numeric chromosome abnormalities.
Benjamin D Solomon, Kenneth N Rosenbaum, Jeanne M Meck, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
40
12

Early pathogenesis of holoprosencephaly.
Kohei Shiota, Shigehito Yamada. Am J Med Genet C Semin Med Genet 2010
19
26

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
14

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.
Claude Bendavid, Christèle Dubourg, Isabelle Gicquel, Laurent Pasquier, Pascale Saugier-Veber, Marie-Renée Durou, Sylvie Jaillard, Thierry Frébourg, Bassem R Haddad, Catherine Henry,[...]. Hum Genet 2006
43
11

Management of children with holoprosencephaly.
Eric B Levey, Elaine Stashinko, Nancy J Clegg, Mauricio R Delgado. Am J Med Genet C Semin Med Genet 2010
49
10

Holoprosencephaly: new models, new insights.
Robert S Krauss. Expert Rev Mol Med 2007
40
12

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
10

Genetics of ventral forebrain development and holoprosencephaly.
M Muenke, P A Beachy. Curr Opin Genet Dev 2000
198
10


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.