A citation-based method for searching scientific literature

Jill A Rosenfeld, Kathleen Leppig, Blake C Ballif, Heidi Thiese, Christine Erdie-Lalena, Erwati Bawle, Sujatha Sastry, J Edward Spence, Anne Bandholz, Urvashi Surti, Jonathan Zonana, Kory Keller, Wendy Meschino, Bassem A Bejjani, Beth S Torchia, Lisa G Shaffer. Genet Med 2009
Times Cited: 56







List of co-cited articles
257 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
69

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
64

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
64


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
57

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
51

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
50

TCF4 deletions in Pitt-Hopkins Syndrome.
Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michele Mathieu-Dramard, Gilles Morin, Dominique Martin-Coignard,[...]. Hum Mutat 2008
45
48

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
55

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
42

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
Vera M Kalscheuer, Ilse Feenstra, Conny M A Van Ravenswaaij-Arts, Dominique F C M Smeets, Corinna Menzel, Reinhard Ullmann, Luciana Musante, Hans-Hilger Ropers. Am J Med Genet A 2008
61
35

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

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.
Joris Andrieux, Frédéric Lepretre, Jean-Marie Cuisset, Alice Goldenberg, Bruno Delobel, Sylvie Manouvrier-Hanu, Muriel Holder-Espinasse. Eur J Med Genet 2008
27
62

Pitt-Hopkins syndrome in two patients and further definition of the phenotype.
Maarit M Peippo, Kalle O J Simola, Leena K Valanne, Andreo T Larsen, Marketta Kähkönen, Mari P Auranen, Jaakko Ignatius. Clin Dysmorphol 2006
42
40


CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Christiane Zweier, Eiko K de Jong, Markus Zweier, Alfredo Orrico, Lilian B Ousager, Amanda L Collins, Emilia K Bijlsma, Merel A W Oortveld, Arif B Ekici, André Reis,[...]. Am J Hum Genet 2009
243
23

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
37

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.
Grazia Taddeucci, Alice Bonuccelli, Ilaria Mantellassi, Alessandro Orsini, Enrico Tarantino. Ital J Pediatr 2010
20
60


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
38



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
36

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.
Daphne Lehalle, Charles Williams, Victoria Mok Siu, Jill Clayton-Smith. Am J Med Genet A 2011
16
68

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
52

Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,del(18)(q21.2.q21.33).
Zenichiro Kato, Wataru Morimoto, Takeshi Kimura, Akihiro Matsushima, Naomi Kondo. Birth Defects Res A Clin Mol Teratol 2010
17
58

Mosaic microdeletion 18q21 as a cause of mental retardation.
Dimitri J Stavropoulos, Daune L MacGregor, Grace Yoon. Eur J Med Genet 2010
14
71

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
16

Common variants conferring risk of schizophrenia.
Hreinn Stefansson, Roel A Ophoff, Stacy Steinberg, Ole A Andreassen, Sven Cichon, Dan Rujescu, Thomas Werge, Olli P H Pietiläinen, Ole Mors, Preben B Mortensen,[...]. Nature 2009
16


TCF4, schizophrenia, and Pitt-Hopkins Syndrome.
Derek J Blake, Marc Forrest, Ria M Chapman, Caroline L Tinsley, Michael C O'Donovan, Michael J Owen. Schizophr Bull 2010
53
16

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
42


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
31

Mental retardation, macrostomia and hyperpnoea syndrome.
H A Singh. J Paediatr Child Health 1993
18
44

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
14

The emerging roles of TCF4 in disease and development.
Marc P Forrest, Matthew J Hill, Andrew J Quantock, Enca Martin-Rendon, Derek J Blake. Trends Mol Med 2014
94
14

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

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
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,[...]. Clin Genet 2019
33
24


Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model.
Antje Brockschmidt, Alida Filippi, Peter Charbel Issa, Michael Nelles, Horst Urbach, Nicole Eter, Wolfgang Driever, Ruthild G Weber. Hum Genet 2011
21
33

263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
Ludmila Kousoulidou, George Tanteles, Maria Moutafi, Carolina Sismani, Philippos C Patsalis, Violetta Anastasiadou. Eur J Med Genet 2013
17
41

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
12

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

Possible case of Pitt-Hopkins syndrome in sibs.
A Orrico, L Galli, M Zappella, C W Lam, S Bonifacio, F Torricelli, G Hayek. Am J Med Genet 2001
22
27

Acetazolamide for severe apnea in Pitt-Hopkins syndrome.
Stijn L Verhulst, J De Dooy, J Ramet, N Bockaert, R Van Coster, B Ceulemans, W De Backer. Am J Med Genet A 2012
14
42

Pitt-Hopkins Syndrome.
M Peippo, J Ignatius. Mol Syndromol 2012
36
16

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Michael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth Rossin, Amelia M Lindgren,[...]. Cell 2012
403
10

Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development.
Babacar Cisse, Michele L Caton, Manfred Lehner, Takahiro Maeda, Stefanie Scheu, Richard Locksley, Dan Holmberg, Christiane Zweier, Nicolette S den Hollander, Sarina G Kant,[...]. Cell 2008
462
8

E2-2 protein and Fuchs's corneal dystrophy.
Keith H Baratz, Nirubol Tosakulwong, Euijung Ryu, William L Brown, Kari Branham, Wei Chen, Khoa D Tran, Katharina E Schmid-Kubista, John R Heckenlively, Anand Swaroop,[...]. N Engl J Med 2010
183
8


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.