A citation-based method for searching scientific literature

F Lacbawan, B D Solomon, E Roessler, K El-Jaick, S Domené, J I Vélez, N Zhou, D Hadley, J Z Balog, R Long, A Fryer, W Smith, S Omar, S D McLean, K Clarkson, A Lichty, N J Clegg, M R Delgado, E Levey, E Stashinko, L Potocki, M I Vanallen, J Clayton-Smith, D Donnai, D W Bianchi, P B Juliusson, P R Njølstad, H G Brunner, J C Carey, U Hehr, J Müsebeck, P F Wieacker, A Postra, R C M Hennekam, M-J H van den Boogaard, A van Haeringen, A Paulussen, J Herbergs, C T R M Schrander-Stumpel, A R Janecke, D Chitayat, J Hahn, D M McDonald-McGinn, E H Zackai, W B Dobyns, M Muenke. J Med Genet 2009
Times Cited: 65







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



Times Cited
  Times     Co-cited
Similarity


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
38

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
38

The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
155
38

Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
221
36

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
35


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
32

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
36

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
29

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Sabina Domené, Erich Roessler, Kenia B El-Jaick, Mirit Snir, Jamie L Brown, Jorge I Vélez, Sherri Bale, Felicitas Lacbawan, Maximilian Muenke, Benjamin Feldman. Hum Mol Genet 2008
41
46

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
258
27

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
29

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
235
26

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
56

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
24

Holoprosencephaly: clinical, anatomic, and molecular dimensions.
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
138
24

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
32

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
23




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
26

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
28

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
20

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
119
18

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
54
22

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
92
18

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
31

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
20

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
17

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
49
22

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
31

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.
L Nanni, J E Ming, Y Du, R K Hall, M Aldred, A Bankier, M Muenke. Am J Med Genet 2001
97
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

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
I M Orioli, E E Castilla, J E Ming, J Nazer, M J Burle de Aguiar, J C Llerena, M Muenke. Hum Genet 2001
41
24

Murine models of holoprosencephaly.
Karen A Schachter, Robert S Krauss. Curr Top Dev Biol 2008
36
27

Non-genetic risk factors for holoprosencephaly.
Candice Y Johnson, Sonja A Rasmussen. Am J Med Genet C Semin Med Genet 2010
45
22

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

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
19

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
13

Segregation analysis in nonsyndromic holoprosencephaly.
S Odent, B Le Marec, A Munnich, M Le Merrer, C Bonaïti-Pellié. Am J Med Genet 1998
43
20

SIX3 mutations with holoprosencephaly.
Lucilene Arilho Ribeiro, Kenia B El-Jaick, Maximilian Muenke, Antonio Richieri-Costa. Am J Med Genet A 2006
25
36

Holoprosencephaly: new models, new insights.
Robert S Krauss. Expert Rev Mol Med 2007
40
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
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
27

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
20

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Jill A Rosenfeld, Blake C Ballif, Donna M Martin, Arthur S Aylsworth, Bassem A Bejjani, Beth S Torchia, Lisa G Shaffer. Hum Genet 2010
49
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
23

Middle interhemispheric fusion: an unusual variant of holoprosencephaly.
A J Barkovich, D J Quint. AJNR Am J Neuroradiol 1993
110
12

Genetics of ventral forebrain development and holoprosencephaly.
M Muenke, P A Beachy. Curr Opin Genet Dev 2000
197
12


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.