A citation-based method for searching scientific literature

Paul Kruszka, Ariel F Martinez, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
Times Cited: 11







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



Times Cited
  Times     Co-cited
Similarity


Syndromes associated with holoprosencephaly.
Paul Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
28
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
23
45

The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
159
45

Holoprosencephaly in the genomics era.
Erich Roessler, Ping Hu, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
26
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
77
36

Pathogenesis of holoprosencephaly.
Xin Geng, Guillermo Oliver. J Clin Invest 2009
60
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
40
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
23
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
40
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
27
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
27

Holoprosencephaly: clinical, anatomic, and molecular dimensions.
M Michael Cohen. Birth Defects Res A Clin Mol Teratol 2006
139
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
108
27

Epidemiology of holoprosencephaly: Prevalence and risk factors.
Iêda M Orioli, Eduardo E Castilla. Am J Med Genet C Semin Med Genet 2010
64
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
29
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
17
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
25
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
7
42

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
23
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
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
38
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
36
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
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
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
863
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
103
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
93
18

Activator-mediated recruitment of the MLL2 methyltransferase complex to the beta-globin locus.
Celina Demers, Chandra-Prakash Chaturvedi, Jeffrey A Ranish, Gaetan Juban, Patrick Lai, Francois Morle, Ruedi Aebersold, F Jeffrey Dilworth, Mark Groudine, Marjorie Brand. Mol Cell 2007
102
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
63
18

Structural central nervous system (CNS) anomalies in Kabuki syndrome.
T Ben-Omran, Ahmad S Teebi. Am J Med Genet A 2005
15
18

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
678
18

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
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

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
54
18

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
31
18

Abnormal sterol metabolism in holoprosencephaly.
Dorothea Haas, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
24
18

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
77
18

Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.
Iêda M Orioli, Emmanuelle Amar, Marian K Bakker, Eva Bermejo-Sánchez, Fabrizio Bianchi, Mark A Canfield, Maurizio Clementi, Adolfo Correa, Melinda Csáky-Szunyogh, Marcia L Feldkamp,[...]. Am J Med Genet C Semin Med Genet 2011
14
18

Holoprosencephaly in infants of diabetic mothers.
M Barr, J W Hanson, K Currey, S Sharp, H Toriello, R D Schmickel, G N Wilson. J Pediatr 1983
159
18

Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study.
Simone S Vaz, Bernard Chodirker, Chitra Prasad, Jamie A Seabrook, Albert E Chudley, Asuri N Prasad. Am J Med Genet A 2012
10
20

Validation of self-reported proximity to agricultural crops in a case-control study of neural tube defects.
Rudolph P Rull, Beate Ritz, Gary M Shaw. J Expo Sci Environ Epidemiol 2006
23
18

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
65
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
44
18

Non-genetic risk factors for holoprosencephaly.
Candice Y Johnson, Sonja A Rasmussen. Am J Med Genet C Semin Med Genet 2010
45
18

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
18

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
36
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.