A citation-based method for searching scientific literature

Marcella Zollino, Christiane Zweier, Ingrid D Van Balkom, David A Sweetser, Joseph Alaimo, Emilia K Bijlsma, Jannine Cody, Sarah H Elsea, Irina Giurgea, Marina Macchiaiolo, Robert Smigiel, Ronald L Thibert, Ingrid Benoist, Jill Clayton-Smith, Channa F De Winter, Stijn Deckers, Anusha Gandhi, Sylvia Huisman, Dagmar Kempink, Frea Kruisinga, Vittoria Lamacchia, Giuseppe Marangi, Leonie Menke, Paul Mulder, Ann Nordgren, Alessandra Renieri, Sue Routledge, Carol J Saunders, Agnieszka Stembalska, Hans Van Balkom, Sandra Whalen, Raoul C Hennekam. Clin Genet 2019
Times Cited: 33







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



Times Cited
  Times     Co-cited
Similarity


Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
Jeanne Amiel, Marlene Rio, Loic de Pontual, Richard Redon, Valerie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P Carter, Stanislas Lyonnet, Arnold Munnich,[...]. Am J Hum Genet 2007
208
60

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Sandra Whalen, Delphine Héron, Thierry Gaillon, Oana Moldovan, Massimiliano Rossi, Françoise Devillard, Fabienne Giuliano, Gabriela Soares, Michelle Mathieu-Dramard, Alexandra Afenjar,[...]. Hum Mutat 2012
83
48

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, Nathalie Boddaert, Christine Soufflet, Capucine Picard, Anne Durandy, Angus Dobbie,[...]. Hum Mutat 2009
113
42

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
Christiane Zweier, Maarit M Peippo, Juliane Hoyer, Sergio Sousa, Armand Bottani, Jill Clayton-Smith, William Reardon, Jorge Saraiva, Alexandra Cabral, Ina Gohring,[...]. Am J Hum Genet 2007
218
42


Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.
Courtney Thaxton, Alexander D Kloth, Ellen P Clark, Sheryl S Moy, Raymond A Chitwood, Benjamin D Philpot. J Neurosci 2018
28
46

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.
Kimberly Goodspeed, Cassandra Newsom, Mary Ann Morris, Craig Powell, Patricia Evans, Sailaja Golla. J Child Neurol 2018
29
44

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
C Zweier, H Sticht, E K Bijlsma, J Clayton-Smith, S E Boonen, A Fryer, M T Greally, L Hoffmann, N S den Hollander, M Jongmans,[...]. J Med Genet 2008
72
36

Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons.
Matthias Jung, Benjamin M Häberle, Tristan Tschaikowsky, Marie-Theres Wittmann, Elli-Anna Balta, Vivien-Charlott Stadler, Christiane Zweier, Arnd Dörfler, Christian Johannes Gloeckner, D Chichung Lie. Mol Autism 2018
35
36


Tcf4 Regulates Synaptic Plasticity, DNA Methylation, and Memory Function.
Andrew J Kennedy, Elizabeth J Rahn, Brynna S Paulukaitis, Katherine E Savell, Holly B Kordasiewicz, Jing Wang, John W Lewis, Jessica Posey, Sarah K Strange, Mikael C Guzman-Karlsson,[...]. Cell Rep 2016
78
36


Disruption of TCF4 regulatory networks leads to abnormal cortical development and mental disabilities.
Hong Li, Ying Zhu, Yury M Morozov, Xiaoli Chen, Stephanie Cerceo Page, Matthew D Rannals, Brady J Maher, Pasko Rakic. Mol Psychiatry 2019
40
33

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
Channa F de Winter, Melanie Baas, Emilia K Bijlsma, John van Heukelingen, Sue Routledge, Raoul C M Hennekam. Orphanet J Rare Dis 2016
35
33

The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors.
Adriano Flora, Jesus J Garcia, Christina Thaller, Huda Y Zoghbi. Proc Natl Acad Sci U S A 2007
144
30

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
Antje Brockschmidt, Unda Todt, Soojin Ryu, Alexander Hoischen, Christina Landwehr, Stefanie Birnbaum, Wilhelm Frenck, Bernhard Radlwimmer, Peter Lichter, Hartmut Engels,[...]. Hum Mol Genet 2007
117
30



The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, Serena Lattante, Marina Murdolo, Bruno Dallapiccola, Chiara Biscione, Rosetta Lecce, Pietro Chiurazzi, Corrado Romano,[...]. Am J Med Genet A 2011
49
27

Psychiatric Risk Gene Transcription Factor 4 Regulates Intrinsic Excitability of Prefrontal Neurons via Repression of SCN10a and KCNQ1.
Matthew D Rannals, Gregory R Hamersky, Stephanie Cerceo Page, Morganne N Campbell, Aaron Briley, Ryan A Gallo, BaDoi N Phan, Thomas M Hyde, Joel E Kleinman, Joo Heon Shin,[...]. Neuron 2016
63
27

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.
Mira Kharbanda, Kaja Kannike, Anne Lampe, Jonathan Berg, Tõnis Timmusk, Mari Sepp. Eur J Med Genet 2016
22
36

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
Jill A Rosenfeld, Kathleen Leppig, Blake C Ballif, Heidi Thiese, Christine Erdie-Lalena, Erwati Bawle, Sujatha Sastry, J Edward Spence, Anne Bandholz, Urvashi Surti,[...]. Genet Med 2009
56
24



Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
Maria Francesca Bedeschi, Giuseppe Marangi, Maria Rosaria Calvello, Stefania Ricciardi, Francesca Pia Chiara Leone, Marco Baccarin, Silvana Guerneri, Daniela Orteschi, Marina Murdolo, Serena Lattante,[...]. Eur J Med Genet 2017
12
66

Pitt-Hopkins Syndrome.
M Peippo, J Ignatius. Mol Syndromol 2012
36
21

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Valerie Maduro, Barbara N Pusey, Praveen F Cherukuri, Paul Atkins, Christèle du Souich, Rosemarie Rupps, Marjolaine Limbos, David R Adams, Samarth S Bhatt, Patrice Eydoux,[...]. Orphanet J Rare Dis 2016
20
35


The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability.
Marc P Forrest, Matthew J Hill, David H Kavanagh, Katherine E Tansey, Adrian J Waite, Derek J Blake. Schizophr Bull 2018
47
21

A myelin-related transcriptomic profile is shared by Pitt-Hopkins syndrome models and human autism spectrum disorder.
BaDoi N Phan, Joseph F Bohlen, Brittany A Davis, Zengyou Ye, Huei-Ying Chen, Brent Mayfield, Srinidhi Rao Sripathy, Stephanie Cerceo Page, Morganne N Campbell, Hannah L Smith,[...]. Nat Neurosci 2020
44
21

Region and Cell Type Distribution of TCF4 in the Postnatal Mouse Brain.
Hyojin Kim, Noah C Berens, Nicole E Ochandarena, Benjamin D Philpot. Front Neuroanat 2020
13
53

Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
Marc Forrest, Ria M Chapman, A Michelle Doyle, Caroline L Tinsley, Adrian Waite, Derek J Blake. Hum Mutat 2012
46
18

Tcf4 Controls Neuronal Migration of the Cerebral Cortex through Regulation of Bmp7.
Tianda Chen, Qinwei Wu, Yang Zhang, Tianlan Lu, Weihua Yue, Dai Zhang. Front Mol Neurosci 2016
17
35

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
18

E-proteins orchestrate the progression of neural stem cell differentiation in the postnatal forebrain.
Bruno Fischer, Kasum Azim, Anahí Hurtado-Chong, Sandra Ramelli, María Fernández, Olivier Raineteau. Neural Dev 2014
29
20

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Laura Mary, Amélie Piton, Elise Schaefer, Francesca Mattioli, Elsa Nourisson, Claire Feger, Claire Redin, Magali Barth, Salima El Chehadeh, Estelle Colin,[...]. Eur J Hum Genet 2018
10
60

The Intellectual Disability and Schizophrenia Associated Transcription Factor TCF4 Is Regulated by Neuronal Activity and Protein Kinase A.
Mari Sepp, Hanna Vihma, Kaja Nurm, Mari Urb, Stephanie Cerceo Page, Kaisa Roots, Anu Hark, Brady J Maher, Priit Pruunsild, Tõnis Timmusk. J Neurosci 2017
27
22

Knockdown of the schizophrenia susceptibility gene TCF4 alters gene expression and proliferation of progenitor cells from the developing human neocortex.
Matthew J Hill, Richard Killick, Katherinne Navarrete, Aleksandra Maruszak, Gemma M McLaughlin, Brenda P Williams, Nicholas J Bray. J Psychiatry Neurosci 2017
22
27

Cognitive and sensorimotor gating impairments in transgenic mice overexpressing the schizophrenia susceptibility gene Tcf4 in the brain.
Magdalena M Brzózka, Konstantin Radyushkin, Sven P Wichert, Hannelore Ehrenreich, Moritz J Rossner. Biol Psychiatry 2010
90
15

Development, cognition, and behaviour in Pitt-Hopkins syndrome.
Ingrid D C Van Balkom, Pieter Jelle Vuijk, Marijke Franssens, Hans W Hoek, Raoul C M Hennekam. Dev Med Child Neurol 2012
31
16

HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex.
P Persson, A Jögi, A Grynfeld, S Påhlman, H Axelson. Biochem Biophys Res Commun 2000
55
15

Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome.
Matthew D Rannals, Stephanie Cerceo Page, Morganne N Campbell, Ryan A Gallo, Brent Mayfield, Brady J Maher. Rare Dis 2016
18
27

Deconvolution of transcriptional networks identifies TCF4 as a master regulator in schizophrenia.
Abolfazl Doostparast Torshizi, Chris Armoskus, Hanwen Zhang, Marc P Forrest, Siwei Zhang, Tade Souaiaia, Oleg V Evgrafov, James A Knowles, Jubao Duan, Kai Wang. Sci Adv 2019
33
15

Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless.
Laura Tamberg, Mari Sepp, Tõnis Timmusk, Mari Palgi. Biol Open 2015
16
31

The schizophrenia- and autism-associated gene, transcription factor 4 regulates the columnar distribution of layer 2/3 prefrontal pyramidal neurons in an activity-dependent manner.
S C Page, G R Hamersky, R A Gallo, M D Rannals, N E Calcaterra, M N Campbell, B Mayfield, A Briley, B N Phan, A E Jaffe,[...]. Mol Psychiatry 2018
30
16

Tcf4 is required for correct brain development during embryogenesis.
Simone Mesman, Reinier Bakker, Marten P Smidt. Mol Cell Neurosci 2020
14
35

The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.
Minire Hasi, Bridgette Soileau, Courtney Sebold, Annice Hill, Daniel E Hale, Louise O'Donnell, Jannine D Cody. Hum Genet 2011
30
13

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, Romano Tenconi, Matteo Della Monica, Gioacchino Scarano, Domenica Battaglia, Donatella Lettori, Gessica Vasco, Marcella Zollino. Am J Med Genet A 2012
21
19

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
C V M Steinbusch, K E P van Roozendaal, D Tserpelis, E E J Smeets, T J Kranenburg-de Koning, K H de Waal, C Zweier, A Rauch, R C M Hennekam, M J Blok,[...]. Clin Genet 2013
21
19

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
K Takano, M Lyons, C Moyes, J Jones, C E Schwartz. Clin Genet 2010
38
12


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.