Class information for:
Level 1: RUBINSTEIN TAYBI SYNDROME//FLOATING HARBOR SYNDROME//CORNEAL KELOID

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
24536 308 24.9 60%


Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes
The table includes all classes above and classes immediately below the current class.


Cluster id Level Cluster label #P
6 4 GASTROENTEROLOGY & HEPATOLOGY//ONCOLOGY//SURGERY 1371034
375 3       MELANOMA//DERMATOLOGY//DERMATOL 32727
2965 2             RUBINSTEIN TAYBI SYNDROME//NAIL PATELLA SYNDROME//YELLOW NAIL SYNDROME 2649
24536 1                   RUBINSTEIN TAYBI SYNDROME//FLOATING HARBOR SYNDROME//CORNEAL KELOID 308

Terms with highest relevance score


rank Term termType Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 RUBINSTEIN TAYBI SYNDROME authKW 5787895 27% 70% 83
2 FLOATING HARBOR SYNDROME authKW 3175403 11% 97% 33
3 CORNEAL KELOID authKW 803035 3% 90% 9
4 EP300 authKW 507703 4% 39% 13
5 RUBINSTEIN TAYBI authKW 404817 2% 58% 7
6 RUBINSTEIN TAYBI SYNDROME RTS authKW 396561 1% 100% 4
7 CREBBP authKW 396545 4% 33% 12
8 SRCAP authKW 356900 2% 60% 6
9 RSTS authKW 354070 2% 71% 5
10 BROAD THUMB HALLUX SYNDROME authKW 198281 1% 100% 2

Web of Science journal categories


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 Genetics & Heredity 4266 49% 0% 150
2 Ophthalmology 631 13% 0% 39
3 Pediatrics 431 14% 0% 42
4 Medical Ethics 411 2% 0% 7
5 Dermatology 61 4% 0% 12
6 MEDICINE, MISCELLANEOUS 61 0% 0% 1
7 Education, Special 23 1% 0% 3
8 Medicine, Research & Experimental 20 4% 0% 13
9 Rehabilitation 17 2% 0% 6
10 Psychology, Developmental 10 1% 0% 4

Address terms


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 METAB DIS CLIN GENET 132186 1% 67% 2
2 ACORD 99140 0% 100% 1
3 CHILDRENS HOSPMED DEV DISABIL 99140 0% 100% 1
4 CRIANCAUNIDAD GENET 99140 0% 100% 1
5 FERGUSON SMITH CLIN GENTET 99140 0% 100% 1
6 GENET HUMAN DEV CANC 99140 0% 100% 1
7 GENET IMAGINEU781 99140 0% 100% 1
8 GENET MOL THER IE GEN 99140 0% 100% 1
9 GENET PHYSIOL SIGNALISAT NUCL 99140 0% 100% 1
10 GROP HOSP PITIE SALPETRIERE 99140 0% 100% 1

Journals


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class
1 AMERICAN JOURNAL OF MEDICAL GENETICS 14688 12% 0% 36
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 14455 9% 1% 29
3 CLINICAL DYSMORPHOLOGY 7191 3% 1% 9
4 GENETIC COUNSELING 5149 2% 1% 7
5 CLINICAL GENETICS 3805 5% 0% 14
6 JOURNAL OF MEDICAL GENETICS 2454 4% 0% 12
7 EUROPEAN JOURNAL OF HUMAN GENETICS 2188 3% 0% 9
8 CORNEA 1463 3% 0% 9
9 BMC MEDICAL GENETICS 1090 1% 0% 4
10 EUROPEAN JOURNAL OF MEDICAL GENETICS 779 1% 0% 3

Author Key Words


Rank Term Chi square Shr. of publ. in
class containing
term		 Class's shr. of
term's tot. occurrences		 #P with
term in
class		 LCSH search Wikipedia search
1 RUBINSTEIN TAYBI SYNDROME 5787895 27% 70% 83 Search RUBINSTEIN+TAYBI+SYNDROME Search RUBINSTEIN+TAYBI+SYNDROME
2 FLOATING HARBOR SYNDROME 3175403 11% 97% 33 Search FLOATING+HARBOR+SYNDROME Search FLOATING+HARBOR+SYNDROME
3 CORNEAL KELOID 803035 3% 90% 9 Search CORNEAL+KELOID Search CORNEAL+KELOID
4 EP300 507703 4% 39% 13 Search EP300 Search EP300
5 RUBINSTEIN TAYBI 404817 2% 58% 7 Search RUBINSTEIN+TAYBI Search RUBINSTEIN+TAYBI
6 RUBINSTEIN TAYBI SYNDROME RTS 396561 1% 100% 4 Search RUBINSTEIN+TAYBI+SYNDROME+RTS Search RUBINSTEIN+TAYBI+SYNDROME+RTS
7 CREBBP 396545 4% 33% 12 Search CREBBP Search CREBBP
8 SRCAP 356900 2% 60% 6 Search SRCAP Search SRCAP
9 RSTS 354070 2% 71% 5 Search RSTS Search RSTS
10 BROAD THUMB HALLUX SYNDROME 198281 1% 100% 2 Search BROAD+THUMB+HALLUX+SYNDROME Search BROAD+THUMB+HALLUX+SYNDROME

Core articles
The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.


Rank Reference # ref.
in cl.		 Shr. of ref. in
cl.		 Citations
1 RUSCONI, D , NEGRI, G , COLAPIETRO, P , PICINELLI, C , MILANI, D , SPENA, S , MAGNANI, C , SILENGO, MC , SORASIO, L , CURTISOVA, V , ET AL (2015) CHARACTERIZATION OF 14 NOVEL DELETIONS UNDERLYING RUBINSTEIN-TAYBI SYNDROME: AN UPDATE OF THE CREBBP DELETION REPERTOIRE.HUMAN GENETICS. VOL. 134. ISSUE 6. P. 613 -626 31 89% 3
2 NEGRI, G , MAGINI, P , MILANI, D , COLAPIETRO, P , RUSCONI, D , SCARANO, E , BONATI, MT , PRIOLO, M , CRIPPA, M , MAZZANTI, L , ET AL (2016) FROM WHOLE GENE DELETION TO POINT MUTATIONS OF EP300-POSITIVE RUBINSTEIN-TAYBI PATIENTS: NEW INSIGHTS INTO THE MUTATIONAL SPECTRUM AND PECULIAR CLINICAL HALLMARKS.HUMAN MUTATION. VOL. 37. ISSUE 2. P. 175 -183 29 69% 2
3 WHITE, SM , MORGAN, A , DA COSTA, A , LACOMBE, D , KNIGHT, SJL , HOULSTON, R , WHITEFORD, ML , NEWBURY-ECOB, RA , HURST, JA , (2010) THE PHENOTYPE OF FLOATING-HARBOR SYNDROME IN 10 PATIENTS.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 152A. ISSUE 4. P. 821-829 21 100% 11
4 NEGRI, G , MILANI, D , COLAPIETRO, P , FORZANO, F , DELLA MONICA, M , RUSCONI, D , CONSONNI, L , CAFFI, LG , FINELLI, P , SCARANO, G , ET AL (2015) CLINICAL AND MOLECULAR CHARACTERIZATION OF RUBINSTEIN-TAYBI SYNDROME PATIENTS CARRYING DISTINCT NOVEL MUTATIONS OF THE EP300 GENE.CLINICAL GENETICS. VOL. 87. ISSUE 2. P. 148 -154 15 100% 17
5 SPENA, S , MILANI, D , RUSCONI, D , NEGRI, G , COLAPIETRO, P , ELCIOGLU, N , BEDESCHI, F , PILOTTA, A , SPACCINI, L , FICCADENTI, A , ET AL (2015) INSIGHTS INTO GENOTYPE-PHENOTYPE CORRELATIONS FROM CREBBP POINT MUTATION SCREENING IN A COHORT OF 46 RUBINSTEIN-TAYBI SYNDROME PATIENTS.CLINICAL GENETICS. VOL. 88. ISSUE 5. P. 431 -440 20 74% 7
6 HAMILTON, MJ , NEWBURY-ECOB, R , HOLDER-ESPINASSE, M , YAU, S , LILLIS, S , HURST, JA , CLEMENT, E , REARDON, W , JOSS, S , HOBSON, E , ET AL (2016) RUBINSTEIN-TAYBI SYNDROME TYPE 2: REPORT OF NINE NEW CASES THAT EXTEND THE PHENOTYPIC AND GENOTYPIC SPECTRUM.CLINICAL DYSMORPHOLOGY. VOL. 25. ISSUE 4. P. 135 -145 20 80% 0
7 FERGELOT, P , VAN BELZEN, M , VAN GILS, J , AFENJAR, A , ARMOUR, CM , ARVEILER, B , BEETS, L , BURGLEN, L , BUSA, T , COLLET, M , ET AL (2016) PHENOTYPE AND GENOTYPE IN 52 PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME CAUSED BY EP300 MUTATIONS.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 170. ISSUE 12. P. 3069 -3082 21 70% 0
8 SOLOMON, BD , BODIAN, DL , KHROMYKH, A , MORA, GG , LANPHER, BC , IYER, RK , BAVEJA, R , VOCKLEY, JG , NIEDERHUBER, JE , (2015) EXPANDING THE PHENOTYPIC SPECTRUM IN EP300-RELATED RUBINSTEIN-TAYBI SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 167. ISSUE 5. P. 1111 -1116 16 84% 6
9 LOPEZ, M , SEIDEL, V , SANTIBANEZ, P , CERVERA-ACEDO, C , CASTRO-DE CASTRO, P , DOMINGUEZ-GARRIDO, E , (2016) FIRST CASE REPORT OF INHERITED RUBINSTEIN-TAYBI SYNDROME ASSOCIATED WITH A NOVEL EP300 VARIANT.BMC MEDICAL GENETICS. VOL. 17. ISSUE . P. - 15 94% 0
10 ANGELILLO, N , DI COSTANZO, B , BARILLARI, U , (2010) SPEECH-LANGUAGE EVALUATION AND REHABILITATION TREATMENT IN FLOATING-HARBOR SYNDROME: A CASE STUDY.JOURNAL OF COMMUNICATION DISORDERS. VOL. 43. ISSUE 3. P. 252-260 16 100% 1

Classes with closest relation at Level 1


Rank Class id link
1 33589 TRISOMY 16Q//TRISOMY 16P//DUPLICATION CHROMOSOME 16P
2 8607 HISTONE ACETYLTRANSFERASE//GCN5//MOZ
3 29792 WIEDEMANN RAUTENSTRAUCH SYNDROME//HALLERMANN STREIFF SYNDROME//OCULODENTODIGITAL DYSPLASIA
4 6500 EPIGENETICS//DNA METHYLATION//HISTONE ACETYLATION
5 18053 SECKEL SYNDROME//ASPM//MCPH1
6 23749 NAIL PATELLA SYNDROME//LMX1B//COLLAGENOFIBROTIC GLOMERULOPATHY
7 33700 SCHIMKE IMMUNO OSSEOUS DYSPLASIA//SMARCAL1//SIOD
8 20181 PILOMATRICOMA//PILOMATRIXOMA//PILOMATRIX CARCINOMA
9 28622 SUPRACHOROIDAL HEMORRHAGE//EXPULSIVE HEMORRHAGE//DECOMPRESSION RETINOPATHY
10 29174 VIRCHOW ROBIN SPACES//PERIVASCULAR SPACE//DILATED VIRCHOW ROBIN SPACES

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