A citation-based method for searching scientific literature

Ariel F Martinez, Paul S Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
Times Cited: 3







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



Times Cited
  Times     Co-cited
Similarity


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
100

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
66

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
66

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
66

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
66

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
856
66

Holoprosencephaly.
Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Catherine Henry, Sylvie Odent, Véronique David. Orphanet J Rare Dis 2007
232
66

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.
Erich Roessler, Ping Hu, Juliana Marino, Sungkook Hong, Rachel Hart, Seth Berger, Ariel Martinez, Yu Abe, Paul Kruszka, James W Thomas,[...]. Hum Mutat 2018
17
66

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
Hiromi Aoi, Ming Lei, Takeshi Mizuguchi, Nobuko Nishioka, Tomohide Goto, Sahoko Miyama, Toshifumi Suzuki, Kazuhiro Iwama, Yuri Uchiyama, Satomi Mitsuhashi,[...]. J Hum Genet 2019
15
33

Congenital heart defects in molecularly proven Kabuki syndrome patients.
Maria Cristina Digilio, Maria Gnazzo, Francesca Lepri, Maria Lisa Dentici, Elisa Pisaneschi, Anwar Baban, Chiara Passarelli, Rossella Capolino, Adriano Angioni, Antonio Novelli,[...]. Am J Med Genet A 2017
28
33


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
33

Novel heterozygous variants in KMT2D associated with holoprosencephaly.
Cedrik Tekendo-Ngongang, Paul Kruszka, Ariel F Martinez, Maximilian Muenke. Clin Genet 2019
9
33

Sonic hedgehog is required for cardiac outflow tract and neural crest cell development.
I Washington Smoak, N A Byrd, R Abu-Issa, M M Goddeeris, R Anderson, J Morris, K Yamamura, J Klingensmith, E N Meyers. Dev Biol 2005
144
33

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos.
Yu Abe, Paul Kruszka, Ariel F Martinez, Erich Roessler, Kohei Shiota, Shigehito Yamada, Maximilian Muenke. Anat Rec (Hoboken) 2018
8
33

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
52
33

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome.
Simon Poelmans, Tatsuro Kawamoto, Francesca Cristofoli, Constantinus Politis, Joris Vermeesch, Isabelle Bailleul-Forestier, Greet Hens, Koenraad Devriendt, Anna Verdonck, Carine Carels. Am J Med Genet A 2015
11
33

The incidence of congenital heart disease.
Julien I E Hoffman, Samuel Kaplan. J Am Coll Cardiol 2002
33


Holoprosencephaly: recommendations for diagnosis and management.
Emily F Kauvar, Maximilian Muenke. Curr Opin Pediatr 2010
29
33

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
J D Karkera, J S Lee, E Roessler, S Banerjee-Basu, M V Ouspenskaia, J Mez, E Goldmuntz, P Bowers, J Towbin, J W Belmont,[...]. Am J Hum Genet 2007
78
33

Multiple left-right asymmetry defects in Shh(-/-) mutant mice unveil a convergence of the shh and retinoic acid pathways in the control of Lefty-1.
T Tsukui, J Capdevila, K Tamura, P Ruiz-Lozano, C Rodriguez-Esteban, S Yonei-Tamura, J Magallón, R A Chandraratna, K Chien, B Blumberg,[...]. Proc Natl Acad Sci U S A 1999
201
33

The Zic2 gene directs the formation and function of node cilia to control cardiac situs.
Kristen S Barratt, Hannah C Glanville-Jones, Ruth M Arkell. Genesis 2014
19
33

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
Erich Roessler, Maia V Ouspenskaia, Jayaprakash D Karkera, Jorge I Vélez, Amy Kantipong, Felicitas Lacbawan, Peter Bowers, John W Belmont, Jeffrey A Towbin, Elizabeth Goldmuntz,[...]. Am J Hum Genet 2008
104
33

Syndromes associated with holoprosencephaly.
Paul Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
28
33

Molecular cloning and characterization of a novel phospholipase C, PLC-eta.
Jong-Ik Hwang, Yong-Seok Oh, Kum-Joo Shin, Hyun Kim, Sung Ho Ryu, Pann-Ghill Suh. Biochem J 2005
80
33

Phospholipase C-eta enzymes as putative protein kinase C and Ca2+ signalling components in neuronal and neuroendocrine tissues.
Alan J Stewart, Kevin Morgan, Colin Farquharson, Robert P Millar. Neuroendocrinology 2007
29
33


Hereditary chronic pancreatitis.
Jonas Rosendahl, Hans Bödeker, Joachim Mössner, Niels Teich. Orphanet J Rare Dis 2007
76
33

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
C Geoffrey Woods, James Cox, Kelly Springell, Daniel J Hampshire, Moin D Mohamed, Martin McKibbin, Rowena Stern, F Lucy Raymond, Richard Sandford, Saghira Malik Sharif,[...]. Am J Hum Genet 2006
179
33

Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.
Renate Marquis-Nicholson, Salim Aftimos, Fern Ashton, Jennifer M Love, Peter Stone, Jeannette McFarlane, Alice M George, Donald R Love. Gene 2011
5
33

Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.
Kenichiro Taniguchi, Anoush E Anderson, Ann E Sutherland, David Wotton. PLoS Genet 2012
60
33

Embryogenesis of holoprosencephaly.
Kohei Shiota, Shigehito Yamada, Munekazu Komada, Makoto Ishibashi. Am J Med Genet A 2007
19
33

Intracellular Calcium Mobilization Is Required for Sonic Hedgehog Signaling.
Dana Klatt Shaw, Derrick Gunther, Michael J Jurynec, Alexis A Chagovetz, Erin Ritchie, David Jonah Grunwald. Dev Cell 2018
14
33

High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly.
B D Solomon, D E Pineda-Alvarez, A L Gropman, M J Willis, D W Hadley, M Muenke. Mol Syndromol 2012
13
33

Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype.
A J Lewis, E M Simon, A J Barkovich, N J Clegg, M R Delgado, E Levey, J S Hahn. Neurology 2002
66
33

Mechanisms of vertebrate embryo segmentation: Common themes in trunk and limb development.
Caroline J Sheeba, Raquel P Andrade, Isabel Palmeirim. Semin Cell Dev Biol 2016
11
33

A developmental and genetic classification for malformations of cortical development: update 2012.
A James Barkovich, Renzo Guerrini, Ruben I Kuzniecky, Graeme D Jackson, William B Dobyns. Brain 2012
536
33

Transcriptional landscape of the prenatal human brain.
Jeremy A Miller, Song-Lin Ding, Susan M Sunkin, Kimberly A Smith, Lydia Ng, Aaron Szafer, Amanda Ebbert, Zackery L Riley, Joshua J Royall, Kaylynn Aiona,[...]. Nature 2014
667
33

Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.
Sophia M Bous, Benjamin D Solomon, Luitgard Graul-Neumann, Heidemarie Neitzel, Emily E Hardisty, Maximilian Muenke. Clin Dysmorphol 2012
9
33

Duplication of the ZIC2 gene is not associated with holoprosencephaly.
Vaidehi Jobanputra, Alanna Burke, Anyane-Yeboa Kwame, Anita Shanmugham, Maryam Shirazi, Stephen Brown, Peter E Warburton, Brynn Levy, Dorothy Warburton. Am J Med Genet A 2012
7
33

Proteomics of Primary Cilia by Proximity Labeling.
David U Mick, Rachel B Rodrigues, Ryan D Leib, Christopher M Adams, Allis S Chien, Steven P Gygi, Maxence V Nachury. Dev Cell 2015
206
33


Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly.
Kazushi Aoto, Yayoi Shikata, Daisuke Higashiyama, Kohei Shiota, Jun Motoyama. Birth Defects Res A Clin Mol Teratol 2008
77
33

Functional SNP allele discovery (fSNPd): an approach to find highly penetrant, environmental-triggered genotypes underlying complex human phenotypes.
Kaitlin Stouffer, Michael Nahorski, Pablo Moreno, Nivedita Sarveswaran, David Menon, Michael Lee, C Geoffrey Woods. BMC Genomics 2017
3
33

Alobar holoprosencephaly with cyclopia - autopsy-based observations from one medical center.
Jarosław Swatek, Justyna Szumiło, Franciszek Burdan. Reprod Toxicol 2013
2
50

The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling.
Ivan Bosanac, Henry R Maun, Suzie J Scales, Xiaohui Wen, Andreas Lingel, J Fernando Bazan, Frederic J de Sauvage, Sarah G Hymowitz, Robert A Lazarus. Nat Struct Mol Biol 2009
101
33

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
33

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.
Kenia Balbi El-Jaick, Decio Brunoni, Eduardo E Castilla, Miguel Angelo Moreira, Iêda Mario Orioli. Am J Med Genet A 2005
9
33

Teratogenesis of holoprosencephaly.
M Michael Cohen, Kohei Shiota. Am J Med Genet 2002
132
33


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.