Class information for:
Level 2: KABUKI SYNDROME//SCHIMKE IMMUNO OSSEOUS DYSPLASIA//KABUKI MAKE UP SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
4078 600 22.9 67%


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
32878 1                   BLOWDOWN WIND TUNNEL//ARTISAN FOOD//MEAT PIE OF MURCIA 133
33700 1                   SCHIMKE IMMUNO OSSEOUS DYSPLASIA//SMARCAL1//SIOD 121
36055 1                   SCHINZEL GIEDION SYNDROME//MEGACALYCOSIS//MIDFACE RETRACTION 87

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 5890149 21% 93% 125
2 SCHIMKE IMMUNO OSSEOUS DYSPLASIA authKW 1628513 5% 100% 32
3 KABUKI MAKE UP SYNDROME authKW 1323167 4% 100% 26
4 SCHINZEL GIEDION SYNDROME authKW 1221385 4% 100% 24
5 NIIKAWA KUROKI SYNDROME authKW 1119603 4% 100% 22
6 SMARCAL1 authKW 961469 4% 82% 23
7 KMT2D authKW 592178 3% 73% 16
8 MLL2 authKW 550155 3% 54% 20
9 KDM6A authKW 452654 2% 68% 13
10 SIOD authKW 407128 1% 100% 8

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 4221 35% 0% 211
2 Pediatrics 1942 20% 0% 121
3 Medical Ethics 269 1% 0% 8
4 Engineering, Biomedical 176 5% 0% 29
5 Medical Informatics 136 2% 0% 12
6 Acoustics 106 3% 0% 17
7 Urology & Nephrology 67 4% 0% 23
8 Radiology, Nuclear Medicine & Medical Imaging 66 5% 0% 32
9 Nutrition & Dietetics 42 3% 0% 17
10 Mathematical & Computational Biology 41 2% 0% 11

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 101782 0% 100% 2
2 CONSULTA GENET 67853 0% 67% 2
3 ALL WALES CLIN GENET SERV 50891 0% 100% 1
4 AORNA CARDARELLI 50891 0% 100% 1
5 AOS GERARDO MONZA 50891 0% 100% 1
6 CENT SO REG GENT SERV 50891 0% 100% 1
7 CHAIR SURG GYNECOL ONCOL ADULTS CHILDREN 50891 0% 100% 1
8 CHRCHC 50891 0% 100% 1
9 CLAD EST 50891 0% 100% 1
10 CLAD NORD 50891 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 28668 10% 1% 57
2 AMERICAN JOURNAL OF MEDICAL GENETICS 11749 8% 1% 45
3 CLINICAL DYSMORPHOLOGY 6555 2% 1% 12
4 MEDICAL PROGRESS THROUGH TECHNOLOGY 5917 1% 2% 6
5 JOURNAL OF EXTRA-CORPOREAL TECHNOLOGY 5653 0% 11% 1
6 CLINICAL GENETICS 3586 3% 0% 19
7 GENETIC COUNSELING 3445 1% 1% 8
8 ULTRASCHALL IN DER MEDIZIN 3418 2% 1% 11
9 FLUID DYNAMICS 2586 1% 1% 8
10 NUCLEUS 1710 1% 1% 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 KABUKI SYNDROME 5890149 21% 93% 125 Search KABUKI+SYNDROME Search KABUKI+SYNDROME
2 SCHIMKE IMMUNO OSSEOUS DYSPLASIA 1628513 5% 100% 32 Search SCHIMKE+IMMUNO+OSSEOUS+DYSPLASIA Search SCHIMKE+IMMUNO+OSSEOUS+DYSPLASIA
3 KABUKI MAKE UP SYNDROME 1323167 4% 100% 26 Search KABUKI+MAKE+UP+SYNDROME Search KABUKI+MAKE+UP+SYNDROME
4 SCHINZEL GIEDION SYNDROME 1221385 4% 100% 24 Search SCHINZEL+GIEDION+SYNDROME Search SCHINZEL+GIEDION+SYNDROME
5 NIIKAWA KUROKI SYNDROME 1119603 4% 100% 22 Search NIIKAWA+KUROKI+SYNDROME Search NIIKAWA+KUROKI+SYNDROME
6 SMARCAL1 961469 4% 82% 23 Search SMARCAL1 Search SMARCAL1
7 KMT2D 592178 3% 73% 16 Search KMT2D Search KMT2D
8 MLL2 550155 3% 54% 20 Search MLL2 Search MLL2
9 KDM6A 452654 2% 68% 13 Search KDM6A Search KDM6A
10 SIOD 407128 1% 100% 8 Search SIOD Search SIOD

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 CARVALHO, E , HONJO, R , MAGALHAES, M , YAMAMOTO, G , ROCHA, K , NASLAVSKY, M , ZATZ, M , PASSOS-BUENO, MR , KIM, C , BERTOLA, D , (2015) SCHINZEL-GIEDION SYNDROME IN TWO BRAZILIAN PATIENTS: REPORT OF A NOVEL MUTATION IN SETBP1 AND LITERATURE REVIEW OF THE CLINICAL FEATURES.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 167. ISSUE 5. P. 1039 -1046 31 91% 3
8 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
9 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
10 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

Classes with closest relation at Level 2


Rank Class id link
1 3882 SOTOS SYNDROME//NSD1//WEAVER SYNDROME
2 2848 CHARGE SYNDROME//CHOANAL ATRESIA//AICARDI SYNDROME
3 2658 ACHONDROPLASIA//SKELETAL DYSPLASIA//HYPOCHONDROPLASIA
4 343 EZH2//CHROMATIN//POLYCOMB
5 395 GENETICS & HEREDITY//ANNALES DE GENETIQUE//HOLOPROSENCEPHALY
6 3382 LISSENCEPHALY//SECKEL SYNDROME//LIS1
7 898 TURNER SYNDROME//KLINEFELTER SYNDROME//PREMATURE OVARIAN FAILURE
8 160 WERNER SYNDROME//DNA POLYMERASE//DNA REPAIR
9 1704 COMMON VARIABLE IMMUNODEFICIENCY//PRIMARY IMMUNODEFICIENCY//INTRAVENOUS IMMUNOGLOBULIN
10 3109 VELOCARDIOFACIAL SYNDROME//DIGEORGE SYNDROME//22Q112 DELETION SYNDROME

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