A citation-based method for searching scientific literature

Christèle Dubourg, Leïla Lazaro, Laurent Pasquier, Claude Bendavid, Martine Blayau, Franck Le Duff, Marie-Renée Durou, Sylvie Odent, Véronique David. Hum Mutat 2004
Times Cited: 115



Erich Roessler, Yong Ma, Maia V Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A Beachy, Maximilian Muenke. Hum Genet 2009
Times Cited: 50




List of shared articles



Times cited

Hedgehog Signal and Genetic Disorders.
Noriaki Sasai, Michinori Toriyama, Toru Kondo. Front Genet 2019
31

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.
Ariel F Martinez, Paul S Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
3

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

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

Molecular analysis of holoprosencephaly in South America.
Clarice Pagani Savastano, Kênia Balbi El-Jaick, Marcelo Aguiar Costa-Lima, Cristina Maria Batista Abath, Sebastiano Bianca, Denise Pontes Cavalcanti, Têmis Maria Félix, Gioacchino Scarano, Juan Clinton Llerena, Fernando Regla Vargas,[...]. Genet Mol Biol 2014
6

Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency.
Darya Gorbenko del Blanco, Laura C G de Graaff, Theo J Visser, Anita C S Hokken-Koelega. Clin Endocrinol (Oxf) 2013
5


Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma.
Patricia A Gongal, Curtis R French, Andrew J Waskiewicz. Biochim Biophys Acta 2011
17

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

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

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

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

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

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

Hedgehog signaling update.
M Michael Cohen. Am J Med Genet A 2010
77

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