Paul Kruszka, Ariel F Martinez, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
Times Cited: 11
Times Cited: 11
Times Cited
Times Co-cited
Similarity
Syndromes associated with holoprosencephaly.
Paul Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
Paul Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
54
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
Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé. Am J Med Genet C Semin Med Genet 2018
45
The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
45
Holoprosencephaly in the genomics era.
Erich Roessler, Ping Hu, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
Erich Roessler, Ping Hu, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
45
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
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
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Holoprosencephaly in human embryos: epidemiologic studies of 150 cases.
E Matsunaga, K Shiota. Teratology 1977
E Matsunaga, K Shiota. Teratology 1977
36
Definition of critical periods for Hedgehog pathway antagonist-induced holoprosencephaly, cleft lip, and cleft palate.
Galen W Heyne, Cal G Melberg, Padydeh Doroodchi, Kia F Parins, Henry W Kietzman, Joshua L Everson, Lydia J Ansen-Wilson, Robert J Lipinski. PLoS One 2015
Galen W Heyne, Cal G Melberg, Padydeh Doroodchi, Kia F Parins, Henry W Kietzman, Joshua L Everson, Lydia J Ansen-Wilson, Robert J Lipinski. PLoS One 2015
36
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
Artem Kim, Clara Savary, Christèle Dubourg, Wilfrid Carré, Charlotte Mouden, Houda Hamdi-Rozé, Hélène Guyodo, Jerome Le Douce, Laurent Pasquier, Elisabeth Flori,[...]. Brain 2019
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
Christèle Dubourg, Wilfrid Carré, Houda Hamdi-Rozé, Charlotte Mouden, Joëlle Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes,[...]. Hum Mutat 2016
27
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
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
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
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
27
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
27
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
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
27
Epidemiology of holoprosencephaly: Prevalence and risk factors.
Iêda M Orioli, Eduardo E Castilla. Am J Med Genet C Semin Med Genet 2010
Iêda M Orioli, Eduardo E Castilla. Am J Med Genet C Semin Med Genet 2010
27
Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.
Galen W Heyne, Joshua L Everson, Lydia J Ansen-Wilson, Cal G Melberg, Dustin M Fink, Kia F Parins, Padydeh Doroodchi, Caden M Ulschmid, Robert J Lipinski. Dis Model Mech 2016
Galen W Heyne, Joshua L Everson, Lydia J Ansen-Wilson, Cal G Melberg, Dustin M Fink, Kia F Parins, Padydeh Doroodchi, Caden M Ulschmid, Robert J Lipinski. Dis Model Mech 2016
27
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.
Paul Kruszka, Seth I Berger, Karin Weiss, Joshua L Everson, Ariel F Martinez, Sungkook Hong, Kwame Anyane-Yeboa, Robert J Lipinski, Maximilian Muenke. Am J Hum Genet 2019
Paul Kruszka, Seth I Berger, Karin Weiss, Joshua L Everson, Ariel F Martinez, Sungkook Hong, Kwame Anyane-Yeboa, Robert J Lipinski, Maximilian Muenke. Am J Hum Genet 2019
27
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
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
27
Nongenetic risk factors for holoprosencephaly: An updated review of the epidemiologic literature.
April D Summers, Jennita Reefhuis, Joanna Taliano, Sonja A Rasmussen. Am J Med Genet C Semin Med Genet 2018
April D Summers, Jennita Reefhuis, Joanna Taliano, Sonja A Rasmussen. Am J Med Genet C Semin Med Genet 2018
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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
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
18
Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in mice.
Mingi Hong, Robert S Krauss. PLoS Genet 2012
Mingi Hong, Robert S Krauss. PLoS Genet 2012
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
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
18
THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).
W DEMYER, W ZEMAN, C G PALMER. Pediatrics 1964
W DEMYER, W ZEMAN, C G PALMER. Pediatrics 1964
18
Sonic hedgehog regulation of Foxf2 promotes cranial neural crest mesenchyme proliferation and is disrupted in cleft lip morphogenesis.
Joshua L Everson, Dustin M Fink, Joon Won Yoon, Elizabeth J Leslie, Henry W Kietzman, Lydia J Ansen-Wilson, Hannah M Chung, David O Walterhouse, Mary L Marazita, Robert J Lipinski. Development 2017
Joshua L Everson, Dustin M Fink, Joon Won Yoon, Elizabeth J Leslie, Henry W Kietzman, Lydia J Ansen-Wilson, Hannah M Chung, David O Walterhouse, Mary L Marazita, Robert J Lipinski. Development 2017
18
A Simple and Reliable Method for Early Pregnancy Detection in Inbred Mice.
Galen W Heyne, Erin H Plisch, Cal G Melberg, Eric P Sandgren, Jody A Peter, Robert J Lipinski. J Am Assoc Lab Anim Sci 2015
Galen W Heyne, Erin H Plisch, Cal G Melberg, Eric P Sandgren, Jody A Peter, Robert J Lipinski. J Am Assoc Lab Anim Sci 2015
18
Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
18
A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
18
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Sarah B Ng, Abigail W Bigham, Kati J Buckingham, Mark C Hannibal, Margaret J McMillin, Heidi I Gildersleeve, Anita E Beck, Holly K Tabor, Gregory M Cooper, Heather C Mefford,[...]. Nat Genet 2010
Sarah B Ng, Abigail W Bigham, Kati J Buckingham, Mark C Hannibal, Margaret J McMillin, Heidi I Gildersleeve, Anita E Beck, Holly K Tabor, Gregory M Cooper, Heather C Mefford,[...]. Nat Genet 2010
18
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael J Parker, Yanick J Crow, Bronwyn Kerr, Helen Kingston,[...]. Eur J Hum Genet 2012
Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Nicola Ragge, Michael J Parker, Yanick J Crow, Bronwyn Kerr, Helen Kingston,[...]. Eur J Hum Genet 2012
18
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Peter M Van Laarhoven, Leif R Neitzel, Anita M Quintana, Elizabeth A Geiger, Elaine H Zackai, David E Clouthier, Kristin B Artinger, Jeffrey E Ming, Tamim H Shaikh. Hum Mol Genet 2015
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18
Activator-mediated recruitment of the MLL2 methyltransferase complex to the beta-globin locus.
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18
Kabuki syndrome: international consensus diagnostic criteria.
Margaret P Adam, Siddharth Banka, Hans T Bjornsson, Olaf Bodamer, Albert E Chudley, Jaqueline Harris, Hiroshi Kawame, Brendan C Lanpher, Andrew W Lindsley, Giuseppe Merla,[...]. J Med Genet 2019
Margaret P Adam, Siddharth Banka, Hans T Bjornsson, Olaf Bodamer, Albert E Chudley, Jaqueline Harris, Hiroshi Kawame, Brendan C Lanpher, Andrew W Lindsley, Giuseppe Merla,[...]. J Med Genet 2019
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Structural central nervous system (CNS) anomalies in Kabuki syndrome.
T Ben-Omran, Ahmad S Teebi. Am J Med Genet A 2005
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GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
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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
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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
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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
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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
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
18
Abnormal sterol metabolism in holoprosencephaly.
Dorothea Haas, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
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The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.
Henry W Kietzman, Joshua L Everson, Kathleen K Sulik, Robert J Lipinski. PLoS One 2014
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Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.
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Holoprosencephaly in infants of diabetic mothers.
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Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study.
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Validation of self-reported proximity to agricultural crops in a case-control study of neural tube defects.
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Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.
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Importance of gene-environment interactions in the etiology of selected birth defects.
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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
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Non-genetic risk factors for holoprosencephaly.
Candice Y Johnson, Sonja A Rasmussen. Am J Med Genet C Semin Med Genet 2010
Candice Y Johnson, Sonja A Rasmussen. Am J Med Genet C Semin Med Genet 2010
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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
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Williams-Beuren syndrome in diverse populations.
Paul Kruszka, Antonio R Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D Gill, Alec P Boyle, Tommy Hu, Yonit A Addissie, Gary T K Mok,[...]. Am J Med Genet A 2018
Paul Kruszka, Antonio R Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt, Ashleigh D Gill, Alec P Boyle, Tommy Hu, Yonit A Addissie, Gary T K Mok,[...]. Am J Med Genet A 2018
18
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.