Class information for:
Level 1: KBG SYNDROME//AARSKOG SCOTT SYNDROME//FGD1

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
30657 165 24.0 68%


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
1566 2             FRAGILE X SYNDROME//RETT SYNDROME//FRAGILE X 7353
30657 1                   KBG SYNDROME//AARSKOG SCOTT SYNDROME//FGD1 165

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 KBG SYNDROME authKW 3364789 12% 91% 20
2 AARSKOG SCOTT SYNDROME authKW 3155820 11% 95% 18
3 FGD1 authKW 1903508 7% 86% 12
4 FACIOGENITAL DYSPLASIA authKW 1480509 5% 100% 8
5 AARSKOG SYNDROME authKW 1399537 7% 69% 11
6 ANKRD11 authKW 1317210 7% 65% 11
7 FGD1 GENE authKW 1295445 4% 100% 7
8 MACRODONTIA authKW 881765 5% 53% 9
9 UOC MOL MED address 740254 2% 100% 4
10 FRABIN authKW 422999 2% 57% 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 2757 53% 0% 88
2 Medical Ethics 395 3% 0% 5
3 Pediatrics 141 11% 0% 18
4 Biochemistry & Molecular Biology 53 19% 0% 31
5 Cell Biology 52 11% 0% 18
6 Developmental Biology 29 3% 0% 5
7 Medicine, Research & Experimental 29 6% 0% 10
8 Biotechnology & Applied Microbiology 19 6% 0% 10
9 Ophthalmology 13 3% 0% 5
10 Dentistry, Oral Surgery & Medicine 9 2% 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 UOC MOL MED 740254 2% 100% 4
2 AFDELING GENET 185064 1% 100% 1
3 CANC DIS EPIGENET MURDOCH CHILDRENS INS 185064 1% 100% 1
4 CHU GRENOBLEINSERM 1209CNRSUMR 5309 185064 1% 100% 1
5 FAK COCUK HASTANESI INCIRALTI MED 185064 1% 100% 1
6 GRC UPMC DEFICIENCES INTELLECTUELLES AUTISME 185064 1% 100% 1
7 HISTOL EMBRYOL CYTOGENET BDR 185064 1% 100% 1
8 MEMBRANE SORTING BIOGENESIS UNIT 185064 1% 100% 1
9 MOL CELL BIOL CANC CAMPAIGN 185064 1% 100% 1
10 MOL CELLULAR BIOLCHO KU 185064 1% 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 11591 12% 0% 19
2 GENETIC COUNSELING 4907 3% 1% 5
3 CLINICAL DYSMORPHOLOGY 2650 2% 0% 4
4 AMERICAN JOURNAL OF MEDICAL GENETICS 2550 7% 0% 11
5 GENES TO CELLS 2412 3% 0% 5
6 PADIATRIE UND PADOLOGIE 2077 1% 1% 1
7 CLINICAL GENETICS 1775 4% 0% 7
8 JOURNAL OF MEDICAL GENETICS 1560 4% 0% 7
9 AUSTRALIAN JOURNAL OF OPHTHALMOLOGY 892 1% 0% 1
10 JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM 824 2% 0% 4

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 KBG SYNDROME 3364789 12% 91% 20 Search KBG+SYNDROME Search KBG+SYNDROME
2 AARSKOG SCOTT SYNDROME 3155820 11% 95% 18 Search AARSKOG+SCOTT+SYNDROME Search AARSKOG+SCOTT+SYNDROME
3 FGD1 1903508 7% 86% 12 Search FGD1 Search FGD1
4 FACIOGENITAL DYSPLASIA 1480509 5% 100% 8 Search FACIOGENITAL+DYSPLASIA Search FACIOGENITAL+DYSPLASIA
5 AARSKOG SYNDROME 1399537 7% 69% 11 Search AARSKOG+SYNDROME Search AARSKOG+SYNDROME
6 ANKRD11 1317210 7% 65% 11 Search ANKRD11 Search ANKRD11
7 FGD1 GENE 1295445 4% 100% 7 Search FGD1+GENE Search FGD1+GENE
8 MACRODONTIA 881765 5% 53% 9 Search MACRODONTIA Search MACRODONTIA
9 FRABIN 422999 2% 57% 4 Search FRABIN Search FRABIN
10 FACIODIGITOGENITAL SYNDROME 370127 1% 100% 2 Search FACIODIGITOGENITAL+SYNDROME Search FACIODIGITOGENITAL+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 DILUNA, ML , AMANKULOR, NM , JOHNSON, MH , GUNEL, M , (2007) CEREBROVASCULAR DISEASE ASSOCIATED WITH AARSKOG-SCOTT SYNDROME.NEURORADIOLOGY. VOL. 49. ISSUE 5. P. 457-461 28 97% 5
2 PILOZZI-EDMONDS, L , MAHER, TA , BASRAN, RK , MILUNSKY, A , AL-THIHLI, K , BRAVERMAN, NE , ALFARES, A , (2011) FRATERNAL TWINS WITH AARSKOG-SCOTT SYNDROME DUE TO MATERNAL GERMLINE MOSAICISM.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 155A. ISSUE 8. P. 1987-1990 18 90% 3
3 CRIPPA, M , RUSCONI, D , CASTRONOVO, C , BESTETTI, I , RUSSO, S , CEREDA, A , SELICORNI, A , LARIZZA, L , FINELLI, P , (2015) FAMILIAL INTRAGENIC DUPLICATION OF ANKRD11 UNDERLYING THREE PATIENTS OF KBG SYNDROME.MOLECULAR CYTOGENETICS. VOL. 8. ISSUE . P. - 15 88% 1
4 GOLDENBERG, A , RICCARDI, F , TESSIER, A , PFUNDT, R , BUSA, T , CACCIAGLI, P , CAPRI, Y , COUTTON, C , DELAHAYE-DURIEZ, A , FREBOURG, T , ET AL (2016) CLINICAL AND MOLECULAR FINDINGS IN 39 PATIENTS WITH KBG SYNDROME CAUSED BY DELETION OR MUTATION OF ANKRD11.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 170. ISSUE 11. P. 2847 -2859 21 60% 0
5 VOLTER, C , MARTINEZ, R , HAGEN, R , KRESS, W , (2014) AARSKOG-SCOTT SYNDROME: A NOVEL MUTATION IN THE FGD1 GENE ASSOCIATED WITH SEVERE CRANIOFACIAL DYSPLASIA.EUROPEAN JOURNAL OF PEDIATRICS. VOL. 173. ISSUE 10. P. 1373 -1376 14 93% 0
6 XU, MZ , QI, M , ZHOU, HL , YONG, J , DIU, HQ , CONG, PK , HONG, XT , LI, CJ , JIANG, Y , CHEN, XA , ET AL (2010) FAMILIAL SYNDROME RESEMBLING AARSKOG SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 152A. ISSUE 8. P. 2017-2022 15 94% 1
7 ALTINCIK, A , KANAME, T , DEMIR, K , BOBER, E , (2013) A NOVEL MUTATION IN A MOTHER AND A SON WITH AARSKOG-SCOTT SYNDROME.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. VOL. 26. ISSUE 3-4. P. 385-388 13 87% 4
8 ORRICO, A , GALLI, L , FAIVRE, L , CLAYTON-SMITH, J , AZZARELLO-BURRI, SM , HERTZ, JM , JACQUEMONT, S , TAURISANO, R , CARRERA, IA , TARANTINO, E , ET AL (2010) AARSKOG-SCOTT SYNDROME: CLINICAL UPDATE AND REPORT OF NINE NOVEL MUTATIONS OF THE FGD1 GENE.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 152A. ISSUE 2. P. 313-318 14 82% 20
9 AL-SEMARI, A , WAKIL, SM , AL-MUHAIZEA, MA , DABABO, M , AL-AMR, R , ALKURAYA, F , MEYER, BF , (2013) NOVEL FGD1 MUTATION UNDERLYING AARSKOG-SCOTT SYNDROME WITH MYOPATHY AND DISTAL ARTHROPATHY.CLINICAL DYSMORPHOLOGY. VOL. 22. ISSUE 1. P. 13-17 11 100% 2
10 VERHOEVEN, WMA , EGGER, JIM , HOOGEBOOM, AJM , (2012) X-LINKED AARSKOG SYNDROME: REPORT ON A NOVEL FGD1 GENE MUTATION. EXECUTIVE DYSFUNCTION AS PART OF THE BEHAVIOURAL PHENOTYPE.GENETIC COUNSELING. VOL. 23. ISSUE 2. P. 157-167 17 63% 3

Classes with closest relation at Level 1


Rank Class id link
1 8667 X LINKED MENTAL RETARDATION//XLMR//PQBP1
2 1558 RHO GTPASES//TIAM1//RHOB
3 13975 PODOSOME//INVADOPODIA//CORTACTIN
4 33304 COMPUTER ASSISTED DIAGNOSIS COMPUTER AIDED//CONGENITAL MALFORMATION SYNDROMES//DYSMORPHOLOGY DATABASE
5 22654 VAV//VAV1//VAV PROTO ONCOGENE
6 26149 DUBOWITZ SYNDROME//DOOR SYNDROME//COFFIN SIRIS SYNDROME
7 33589 TRISOMY 16Q//TRISOMY 16P//DUPLICATION CHROMOSOME 16P
8 15793 FRONTONASAL DYSPLASIA//MACROSTOMIA//PROBOSCIS LATERALIS
9 26264 KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//NIIKAWA KUROKI SYNDROME
10 36463 LYMPHOHAEMOPOIETIC MALIGNANCIES//QUIRRA SYNDROME//ADULT GENETIC DISEASE

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