Class information for:
Level 1: KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//NIIKAWA KUROKI SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
26264 259 22.2 82%


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
0 4 BIOCHEMISTRY & MOLECULAR BIOLOGY//CELL BIOLOGY//ONCOLOGY 4064930
196 3       GENETICS & HEREDITY//FRAGILE X SYNDROME//AMERICAN JOURNAL OF MEDICAL GENETICS 53756
4078 2             KABUKI SYNDROME//SCHIMKE IMMUNO OSSEOUS DYSPLASIA//KABUKI MAKE UP SYNDROME 600
26264 1                   KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//NIIKAWA KUROKI SYNDROME 259

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 KABUKI SYNDROME authKW 13645461 48% 93% 125
2 KABUKI MAKE UP SYNDROME authKW 3065320 10% 100% 26
3 NIIKAWA KUROKI SYNDROME authKW 2593733 8% 100% 22
4 KMT2D authKW 1371883 6% 73% 16
5 MLL2 authKW 1274543 8% 54% 20
6 KDM6A authKW 1048654 5% 68% 13
7 LONG PALPEBRAL FISSURES authKW 707382 2% 100% 6
8 ACCESSORY LEFT PULMONARY ARTERY authKW 235794 1% 100% 2
9 AREA FUNZ GENET CLIN PEDIAT address 235794 1% 100% 2
10 LOWER LIP PITS authKW 209590 2% 44% 4

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 4449 54% 0% 140
2 Pediatrics 1286 25% 0% 64
3 Medical Ethics 491 3% 0% 7
4 Dentistry, Oral Surgery & Medicine 70 5% 0% 12
5 Otorhinolaryngology 42 3% 0% 8
6 Clinical Neurology 40 7% 0% 18
7 Medicine, Research & Experimental 22 5% 0% 12
8 Endocrinology & Metabolism 15 4% 0% 11
9 Ophthalmology 15 3% 0% 7
10 Surgery 8 5% 0% 14

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 AREA FUNZ GENET CLIN PEDIAT 235794 1% 100% 2
2 ALL WALES CLIN GENET SERV 117897 0% 100% 1
3 AORNA CARDARELLI 117897 0% 100% 1
4 AOS GERARDO MONZA 117897 0% 100% 1
5 CENT SO REG GENT SERV 117897 0% 100% 1
6 CLAD EST 117897 0% 100% 1
7 CLAD NORD 117897 0% 100% 1
8 CLAD SUD LANGUEDOC ROUSSILLON 117897 0% 100% 1
9 CLAD SUD OUEST 117897 0% 100% 1
10 CLAD SUD PACA 117897 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 PART A 37859 17% 1% 43
2 AMERICAN JOURNAL OF MEDICAL GENETICS 12954 12% 0% 31
3 GENETIC COUNSELING 6125 3% 1% 7
4 CLINICAL GENETICS 4530 5% 0% 14
5 CLINICAL DYSMORPHOLOGY 3798 2% 1% 6
6 BMC MEDICAL GENETICS 2925 2% 0% 6
7 CLEFT PALATE-CRANIOFACIAL JOURNAL 1221 2% 0% 5
8 ACTA PAEDIATRICA JAPONICA 1095 1% 0% 2
9 EUROPEAN JOURNAL OF MEDICAL GENETICS 928 1% 0% 3
10 BRAIN & DEVELOPMENT 805 2% 0% 5

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 KABUKI SYNDROME 13645461 48% 93% 125 Search KABUKI+SYNDROME Search KABUKI+SYNDROME
2 KABUKI MAKE UP SYNDROME 3065320 10% 100% 26 Search KABUKI+MAKE+UP+SYNDROME Search KABUKI+MAKE+UP+SYNDROME
3 NIIKAWA KUROKI SYNDROME 2593733 8% 100% 22 Search NIIKAWA+KUROKI+SYNDROME Search NIIKAWA+KUROKI+SYNDROME
4 KMT2D 1371883 6% 73% 16 Search KMT2D Search KMT2D
5 MLL2 1274543 8% 54% 20 Search MLL2 Search MLL2
6 KDM6A 1048654 5% 68% 13 Search KDM6A Search KDM6A
7 LONG PALPEBRAL FISSURES 707382 2% 100% 6 Search LONG+PALPEBRAL+FISSURES Search LONG+PALPEBRAL+FISSURES
8 ACCESSORY LEFT PULMONARY ARTERY 235794 1% 100% 2 Search ACCESSORY+LEFT+PULMONARY+ARTERY Search ACCESSORY+LEFT+PULMONARY+ARTERY
9 LOWER LIP PITS 209590 2% 44% 4 Search LOWER+LIP+PITS Search LOWER+LIP+PITS
10 KABUKI 188630 2% 40% 4 Search KABUKI Search KABUKI

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 SCHRANDER-STUMPEL, CTRM , SPRUYT, L , CURFS, LMG , DEFLOOR, T , SCHRANDER, JJP , (2005) KABUKI SYNDROME: CLINICAL DATA IN 20 PATIENTS, LITERATURE REVIEW, AND FURTHER GUIDELINES FOR PREVENTIVE MANAGEMENT.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 132A. ISSUE 3. P. 234-243 67 97% 29
2 ADAM, MP , HUDGINS, L , (2005) KABUKI SYNDROME: A REVIEW.CLINICAL GENETICS. VOL. 67. ISSUE 3. P. 209-219 57 98% 51
3 BOGERSHAUSEN, N , WOLLNIK, B , (2013) UNMASKING KABUKI SYNDROME.CLINICAL GENETICS. VOL. 83. ISSUE 3. P. 201-211 51 74% 28
4 SANTIAGO, J , MUSZLAK, M , GOULOIS, E , RANAIVOARIVONY, V , HEBERT, JC , LACOMBE, D , VERLOES, A , (2010) A CASE OF KABUKI SYNDROME ADMITTED FOR ACUTE DIARRHEA AND GROWTH RETARDATION IN A FRENCH HOSPITAL IN TROPICAL AREA.ARCHIVES DE PEDIATRIE. VOL. 17. ISSUE 5. P. 588-593 42 100% 1
5 BOGERSHAUSEN, N , GATINOIS, V , RIEHMER, V , KAYSERILI, H , BECKER, J , THOENES, M , SIMSEK-KIPER, PO , BARAT-HOUARI, M , ELCIOGLU, NH , WIECZOREK, D , ET AL (2016) MUTATION UPDATE FOR KABUKI SYNDROME GENES KMT2D AND KDM6A AND FURTHER DELINEATION OF X-LINKED KABUKI SYNDROME SUBTYPE 2.HUMAN MUTATION. VOL. 37. ISSUE 9. P. 847 -864 39 67% 3
6 WESSELS, MW , BROOKS, AS , HOOGEBOORN, J , NIERMEIJER, MF , WILLEMS, PJ , (2002) KABUKI SYNDROME: A REVIEW STUDY OF THREE HUNDRED PATIENTS.CLINICAL DYSMORPHOLOGY. VOL. 11. ISSUE 2. P. 95-102 40 98% 51
7 MATSUMOTO, N , NIIKAWA, N , (2003) KABUKI MAKE-UP SYNDROME: A REVIEW.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 117C. ISSUE 1. P. 57-65 36 97% 86
8 LIU, S , HONG, XF , SHEN, C , SHI, Q , WANG, J , XIONG, F , QIU, ZQ , (2015) KABUKI SYNDROME: A CHINESE CASE SERIES AND SYSTEMATIC REVIEW OF THE SPECTRUM OF MUTATIONS.BMC MEDICAL GENETICS. VOL. 16. ISSUE . P. - 25 93% 3
9 VENDRAMINI-PITTOLI, S , HENKLE, LE , DOS SANTOS, DVC , MURRAY, JC , RICHIERI-COSTA, A , KOKITSU-NAKATA, NM , PETRIN, AL , HEARD, JP , (2012) ANALYSIS OF MLL2 GENE IN THE FIRST BRAZILIAN FAMILY WITH KABUKI SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 158A. ISSUE 8. P. 2003 -2008 27 93% 8
10 PALENCIA, R , VELAZQUEZ-FRAGUA, R , PASCUAL-PASCUAL, SI , PASCUAL-CASTROVIEJO, I , (2005) KABUKI MAKE-UP SYNDROME. A REPORT OF 18 SPANISH CASES.REVISTA DE NEUROLOGIA. VOL. 40. ISSUE 8. P. 473-478 31 100% 4

Classes with closest relation at Level 1


Rank Class id link
1 36055 SCHINZEL GIEDION SYNDROME//MEGACALYCOSIS//MIDFACE RETRACTION
2 32581 CEREBRO COSTO MANDIBULAR SYNDROME//MALPUECH SYNDROME//MICHELS SYNDROME
3 14125 USP22//SET1//UBIQUITIN SPECIFIC PROTEASE 22
4 14190 TRISOMY 9//TETRASOMY 9P//TRISOMY 9P
5 25553 JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER
6 34792 POOR DENTITION//ABT ANASTHESIOL OP INTENS MED//ADVANTAGES VERSUS DISADVANTAGES
7 20402 ALAGILLE SYNDROME//ARTERIOHEPATIC DYSPLASIA//PAUCITY OF INTERLOBULAR BILE DUCTS
8 33110 MYHRE SYNDROME//GELEOPHYSIC DYSPLASIA//MICROSPHEROPHAKIA
9 33700 SCHIMKE IMMUNO OSSEOUS DYSPLASIA//SMARCAL1//SIOD
10 21520 SOTOS SYNDROME//NSD1//WEAVER SYNDROME

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