Class information for:
Level 1: RUBINSTEIN TAYBI SYNDROME//CORNEAL KELOID//TRISOMY 16Q

Basic class information
ID Publications Average number
of references		 Avg. shr. active
ref. in WoS
21503 358 24.3 59%


Bar chart of Publication_year

Last years might be incomplete

Classes in level above (level 2)


ID, lev.
above		 Publications Label for level above
409 16055 WOLF HIRSCHHORN SYNDROME//HOLOPROSENCEPHALY//ANNALES DE GENETIQUE

Terms with highest relevance score


Rank Term Type of term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 RUBINSTEIN TAYBI SYNDROME Author keyword 82 66% 21% 76
2 CORNEAL KELOID Author keyword 18 89% 2% 8
3 TRISOMY 16Q Author keyword 18 89% 2% 8
4 CREBBP Author keyword 9 47% 4% 14
5 RUBINSTEIN TAYBI Author keyword 7 64% 2% 7
6 MULVIHILL SMITH SYNDROME Author keyword 6 71% 1% 5
7 RUBINSTEIN TAYBI SYNDROME RTS Author keyword 6 100% 1% 4
8 EP300 Author keyword 5 41% 3% 9
9 DUPLICATION CHROMOSOME 16P Author keyword 3 100% 1% 3
10 PARTIAL TRISOMY 16P Author keyword 3 100% 1% 3

Web of Science journal categories

Author Key Words


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class		 LCSH search Wikipedia search
1 RUBINSTEIN TAYBI SYNDROME 82 66% 21% 76 Search RUBINSTEIN+TAYBI+SYNDROME Search RUBINSTEIN+TAYBI+SYNDROME
2 CORNEAL KELOID 18 89% 2% 8 Search CORNEAL+KELOID Search CORNEAL+KELOID
3 TRISOMY 16Q 18 89% 2% 8 Search TRISOMY+16Q Search TRISOMY+16Q
4 CREBBP 9 47% 4% 14 Search CREBBP Search CREBBP
5 RUBINSTEIN TAYBI 7 64% 2% 7 Search RUBINSTEIN+TAYBI Search RUBINSTEIN+TAYBI
6 MULVIHILL SMITH SYNDROME 6 71% 1% 5 Search MULVIHILL+SMITH+SYNDROME Search MULVIHILL+SMITH+SYNDROME
7 RUBINSTEIN TAYBI SYNDROME RTS 6 100% 1% 4 Search RUBINSTEIN+TAYBI+SYNDROME+RTS Search RUBINSTEIN+TAYBI+SYNDROME+RTS
8 EP300 5 41% 3% 9 Search EP300 Search EP300
9 DUPLICATION CHROMOSOME 16P 3 100% 1% 3 Search DUPLICATION+CHROMOSOME+16P Search DUPLICATION+CHROMOSOME+16P
10 PARTIAL TRISOMY 16P 3 100% 1% 3 Search PARTIAL+TRISOMY+16P Search PARTIAL+TRISOMY+16P

Key Words Plus


Rank Web of Science journal category Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ. in
class
1 16P133 29 75% 6% 21
2 DENOVO RECIPROCAL TRANSLOCATION 24 82% 4% 14
3 EP300 13 67% 3% 12
4 PARTIAL TRISOMY 16Q 11 100% 2% 6
5 CHROMOSOME 16P133 10 48% 4% 15
6 LOWES SYNDROME 9 83% 1% 5
7 CREBBP 8 100% 1% 5
8 DUPLICATION 16P 8 100% 1% 5
9 MATERNAL TRANSLOCATION 8 48% 3% 12
10 INSERTIONAL TRANSLOCATION 5 60% 2% 6

Journals

Reviews


Title Publ. year Cit. Active
references		 % act. ref.
to same field
Epigenetic Mechanisms of Rubinstein-Taybi Syndrome 2014 8 66 36%
Rubinstein-Taybi syndrome medical guidelines 2003 37 26 81%
Molecular characterization of partial trisomy 16q24.1-qter: Clinical report and review of the literature 2002 24 28 79%
Giant Corneal Keloid: Case Report and Review of the Literature 2010 5 15 87%
Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review 2007 9 22 91%
Karyotype/Phenotype Correlation in Partial Trisomies of the Long Arm of Chromosome 16: Case Report and Review of Literature 2012 3 32 72%
Unilateral congenital corneal keloid with anterior segment mesenchymal dysgenesis and subluxated lens - Case report and review of literature 2007 3 11 100%
Ocular anomalies in Rubinstein-Taybi syndrome: a further case report and review of the literature 2014 0 11 100%
Clinical, Cytogenetic and Molecular-Cytogenetic Characterization of a Patient With a De Novo Tandem Proximal-Intermediate Duplication of 16q and Review of the Literature 2011 2 18 61%
16p SUBTELOMERIC DUPLICATION WITH VASCULAR ANOMALIES: AN ALBANIAN CASE REPORT AND LITERATURE REVIEW 2012 0 11 82%

Address terms


Rank Address term Relevance score
(tfidf)		 Class's shr.
of term's tot.
occurrences		 Shr. of publ.
in class containing
term		 Num. of
publ.
in class
1 METAB DIS CLIN GENET 2 67% 0.6% 2
2 SERV CYTOGENET EMBRYOL 1 40% 0.6% 2
3 AORN G RUMMO 1 50% 0.3% 1
4 DNA CHIP PLATFORM 1 50% 0.3% 1
5 FDN MONZA BRIANZA BAMBINO MAMMA 1 50% 0.3% 1
6 HOSP PELLEGRIN ENFANT 1 50% 0.3% 1
7 MED GENET 1 1 50% 0.3% 1
8 NEONATOL GENET 1 50% 0.3% 1
9 PAEDOPATHOL 1 50% 0.3% 1
10 REFERENCE MANIFESTAT ODONTOL MALAD RA 1 50% 0.3% 1

Related classes at same level (level 1)


Rank Relatedness score Related classes
1 0.0000123232 MYST//MOZ//HISTONE ACETYLTRANSFERASE
2 0.0000096121 TRISOMY 10Q//MONOSOMY 10Q//10P TRISOMY
3 0.0000096049 SCHIMKE IMMUNO OSSEOUS DYSPLASIA//SMARCAL1//SCHIMKE IMMUNOOSSEOUS DYSPLASIA
4 0.0000084117 SUBTELOMERIC REARRANGEMENTS//IDIOPATHIC MENTAL RETARDATION//MBD5
5 0.0000078457 CAT EYE SYNDROME//SUPERNUMERARY MARKER CHROMOSOMES//SMALL SUPERNUMERARY MARKER CHROMOSOME
6 0.0000075106 PARTIAL DUPLICATION 9Q//CHROMOSOME VARIANT//CHROMOSOME 9
7 0.0000070094 CHROMOSOME 6Q DELETION//SIM1 GENE//6Q DELETION
8 0.0000066528 TRISOMY 9P//TETRASOMY 9P//PARTIAL TRISOMY 7P
9 0.0000063134 CRI DU CHAT SYNDROME//CRI DU CHAT//3P DELETION SYNDROME
10 0.0000060336 JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER