A citation-based method for searching scientific literature

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
Times Cited: 20







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



Times Cited
  Times     Co-cited
Similarity


A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Elisa De Franco, Rachel A Watson, Wolfgang J Weninger, Chi C Wong, Sarah E Flanagan, Richard Caswell, Angela Green, Catherine Tudor, Christopher J Lelliott, Stefan H Geyer,[...]. Am J Hum Genet 2019
24
65

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
28
35

Holoprosencephaly in the genomics era.
Erich Roessler, Ping Hu, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
27
30

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
43
25

Syndromes associated with holoprosencephaly.
Paul Kruszka, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
31
25

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
25

The molecular genetics of holoprosencephaly.
Erich Roessler, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2010
164
25

Human Ccr4-Not complex is a ligand-dependent repressor of nuclear receptor-mediated transcription.
G Sebastiaan Winkler, Klaas W Mulder, Vivian J Bardwell, Eric Kalkhoven, H Th Marc Timmers. EMBO J 2006
71
25

Cnot1, Cnot2, and Cnot3 maintain mouse and human ESC identity and inhibit extraembryonic differentiation.
Xiaofeng Zheng, Raluca Dumitru, Brad L Lackford, Johannes M Freudenberg, Ajeet P Singh, Trevor K Archer, Raja Jothi, Guang Hu. Stem Cells 2012
47
25

Novel heterozygous variants in KMT2D associated with holoprosencephaly.
Cedrik Tekendo-Ngongang, Paul Kruszka, Ariel F Martinez, Maximilian Muenke. Clin Genet 2019
11
45

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
864
25


Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Joel J Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C Pyle, Dorothy K Grange, Seth I Berger, Katelyn K Payne, Diane Masser-Frye, Tommy Hu, Michelle R Christie,[...]. Am J Hum Genet 2020
18
27

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Lisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, Sinje Geuer, Machteld Oud, Inge van Outersterp, Michael Kwint, Melde Witmond, Simone Kersten, Daniel L Polla,[...]. Am J Hum Genet 2020
13
38

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
783
20

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
20

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
Valérie Senée, Claude Chelala, Sabine Duchatelet, Daorong Feng, Hervé Blanc, Jack-Christophe Cossec, Céline Charon, Marc Nicolino, Pascal Boileau, Douglas R Cavener,[...]. Nat Genet 2006
240
20

GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Hana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, Elisa De Franco, Ildem Akerman, Richard Caswell, Jorge Ferrer, Andrew T Hattersley, Sian Ellard. Nat Genet 2011
180
20

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Anna L Gloyn, Ewan R Pearson, Jennifer F Antcliff, Peter Proks, G Jan Bruining, Annabelle S Slingerland, Neville Howard, Shubha Srinivasan, José M C L Silva, Janne Molnes,[...]. N Engl J Med 2004
807
20

GATA4 mutations are a cause of neonatal and childhood-onset diabetes.
Charles Shaw-Smith, Elisa De Franco, Hana Lango Allen, Marta Batlle, Sarah E Flanagan, Maciej Borowiec, Craig E Taplin, Janiëlle van Alfen-van der Velden, Jaime Cruz-Rojo, Guiomar Perez de Nanclares,[...]. Diabetes 2014
78
20

Rfx6 directs islet formation and insulin production in mice and humans.
Stuart B Smith, Hui-Qi Qu, Nadine Taleb, Nina Y Kishimoto, David W Scheel, Yang Lu, Ann-Marie Patch, Rosemary Grabs, Juehu Wang, Francis C Lynn,[...]. Nature 2010
226
20

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Michael N Weedon, Ines Cebola, Ann-Marie Patch, Sarah E Flanagan, Elisa De Franco, Richard Caswell, Santiago A Rodríguez-Seguí, Charles Shaw-Smith, Candy H-H Cho, Hana Lango Allen,[...]. Nat Genet 2014
169
20

Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.
Tohru Yorifuji, Keiji Kurokawa, Mitsukazu Mamada, Tsuyoshi Imai, Masahiko Kawai, Yoshikazu Nishi, Seiichiro Shishido, Yukihiro Hasegawa, Tatsutoshi Nakahata. J Clin Endocrinol Metab 2004
82
20

Mutations in PTF1A cause pancreatic and cerebellar agenesis.
Gabrielle S Sellick, Karen T Barker, Irene Stolte-Dijkstra, Christina Fleischmann, Richard J Coleman, Christine Garrett, Anna L Gloyn, Emma L Edghill, Andrew T Hattersley, Peter K Wellauer,[...]. Nat Genet 2004
287
20

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence.
D A Stoffers, N T Zinkin, V Stanojevic, W L Clarke, J F Habener. Nat Genet 1997
797
20

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
27
20

Gene-Environment Interactions and the Etiology of Birth Defects.
Robert S Krauss, Mingi Hong. Curr Top Dev Biol 2016
40
20

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
20

Developmental Toxicity Assessment of Piperonyl Butoxide Exposure Targeting Sonic Hedgehog Signaling and Forebrain and Face Morphogenesis in the Mouse: An in Vitro and in Vivo Study.
Joshua L Everson, Miranda R Sun, Dustin M Fink, Galen W Heyne, Cal G Melberg, Kia F Nelson, Padydeh Doroodchi, Lydia J Colopy, Caden M Ulschmid, Alexander A Martin,[...]. Environ Health Perspect 2019
15
26

Endocannabinoids are conserved inhibitors of the Hedgehog pathway.
Helena Khaliullina, Mesut Bilgin, Julio L Sampaio, Andrej Shevchenko, Suzanne Eaton. Proc Natl Acad Sci U S A 2015
51
20

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
26
20

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
41
15

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
15


Molecular testing in holoprosencephaly.
Paul Kruszka, Ariel F Martinez, Maximilian Muenke. Am J Med Genet C Semin Med Genet 2018
11
27

Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.
Lori L Bonnycastle, Peter S Chines, Takashi Hara, Jeroen R Huyghe, Amy J Swift, Pirkko Heikinheimo, Jana Mahadevan, Sirkku Peltonen, Hanna Huopio, Pirjo Nuutila,[...]. Diabetes 2013
70
15

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
Kashyap A Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W Laver, Kevin Colclough, Matthew B Johnson, Marc Abramowicz, Leif Groop, Päivi J Miettinen,[...]. Nat Commun 2017
57
15

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.
Cathryn J Poulton, Rachel Schot, Sima Kheradmand Kia, Marta Jones, Frans W Verheijen, Hanka Venselaar, Marie-Claire Y de Wit, Esther de Graaff, Aida M Bertoli-Avella, Grazia M S Mancini. Am J Hum Genet 2011
57
15

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.
H Eiberg, L Hansen, B Kjer, T Hansen, O Pedersen, M Bille, T Rosenberg, L Tranebjaerg. J Med Genet 2006
81
15

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
Mariana Igoillo-Esteve, Anne Genin, Nelle Lambert, Julie Désir, Isabelle Pirson, Baroj Abdulkarim, Nicolas Simonis, Anais Drielsma, Lorella Marselli, Piero Marchetti,[...]. PLoS Genet 2013
75
15

A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.
E Tutak, M Satar, H Yapicioğlu, A Altintaş, N Narli, O Hergüner, Y Bayram. Genet Couns 2009
25
15

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.
M Al-Shammari, M Al-Husain, T Al-Kharfy, Fowzan S Alkuraya. Clin Genet 2011
30
15

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.
Oscar Rubio-Cabezas, Jan N Jensen, Maria I Hodgson, Ethel Codner, Sian Ellard, Palle Serup, Andrew T Hattersley. Diabetes 2011
103
15

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Sarah E Flanagan, Elisa De Franco, Hana Lango Allen, Michele Zerah, Majedah M Abdul-Rasoul, Julie A Edge, Helen Stewart, Elham Alamiri, Khalid Hussain, Sam Wallis,[...]. Cell Metab 2014
93
15

Permanent diabetes mellitus in the first year of life.
D Iafusco, M A Stazi, R Cotichini, M Cotellessa, M E Martinucci, M Mazzella, V Cherubini, F Barbetti, M Martinetti, F Cerutti,[...]. Diabetologia 2002
105
15

Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.
Valerie M Schwitzgebel, Aline Mamin, Thierry Brun, Beate Ritz-Laser, Maia Zaiko, Alexandre Maret, Francois R Jornayvaz, Gerald E Theintz, Olivier Michielin, Danielle Melloul,[...]. J Clin Endocrinol Metab 2003
123
15

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.
M T Malecki, U S Jhala, A Antonellis, L Fields, A Doria, T Orban, M Saad, J H Warram, M Montminy, A S Krolewski. Nat Genet 1999
416
15

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
Andrey P Babenko, Michel Polak, Hélène Cavé, Kanetee Busiah, Paul Czernichow, Raphael Scharfmann, Joseph Bryan, Lydia Aguilar-Bryan, Martine Vaxillaire, Philippe Froguel. N Engl J Med 2006
433
15

Insulin gene mutations as a cause of permanent neonatal diabetes.
Julie Støy, Emma L Edghill, Sarah E Flanagan, Honggang Ye, Veronica P Paz, Anna Pluzhnikov, Jennifer E Below, M Geoffrey Hayes, Nancy J Cox, Gregory M Lipkind,[...]. Proc Natl Acad Sci U S A 2007
378
15



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.