Class information for:
Level 1: X LINKED MENTAL RETARDATION//XLMR//PQBP1

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
8667 1230 32.8 83%


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
8667 1                   X LINKED MENTAL RETARDATION//XLMR//PQBP1 1230

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 X LINKED MENTAL RETARDATION authKW 1404949 10% 48% 118
2 XLMR authKW 641953 3% 63% 41
3 PQBP1 authKW 496477 2% 100% 20
4 ARX authKW 409195 3% 39% 42
5 FG SYNDROME authKW 353126 2% 68% 21
6 BORJESON FORSSMAN LEHMANN SYNDROME authKW 347534 1% 100% 14
7 MRX authKW 333726 2% 61% 22
8 ARX GENE authKW 322710 1% 100% 13
9 ATR X SYNDROME authKW 293961 1% 79% 15
10 X LINKED INTELLECTUAL DISABILITY authKW 273663 2% 53% 21

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 34243 68% 0% 841
2 Biochemistry & Molecular Biology 217 15% 0% 189
3 Clinical Neurology 159 7% 0% 80
4 Pediatrics 155 5% 0% 60
5 Medical Ethics 123 1% 0% 8
6 Neurosciences 90 8% 0% 94
7 Developmental Biology 75 2% 0% 24
8 Cell Biology 61 6% 0% 71
9 Hematology 33 2% 0% 30
10 Medicine, Research & Experimental 33 3% 0% 39

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 JC SELF HUMAN GENET 121555 2% 21% 23
2 GOLD SERV HUNTER GENET 99295 0% 100% 4
3 JC SELF 66468 1% 18% 15
4 U316 49843 1% 13% 15
5 SERV GENET 49599 4% 4% 53
6 HUNTER GENET 47732 0% 38% 5
7 U129 45876 1% 13% 14
8 NEURONS NETWORKS GRP 44681 0% 60% 3
9 GREENWOOD GENET 39713 0% 40% 4
10 MED PREVENT SOCIAL PEDIAT 33097 0% 67% 2

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 87989 14% 2% 176
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 45639 8% 2% 103
3 JOURNAL OF MEDICAL GENETICS 22192 6% 1% 72
4 EUROPEAN JOURNAL OF MEDICAL GENETICS 15877 2% 2% 27
5 EUROPEAN JOURNAL OF HUMAN GENETICS 12525 3% 1% 43
6 AMERICAN JOURNAL OF HUMAN GENETICS 10335 5% 1% 58
7 CLINICAL GENETICS 9392 4% 1% 44
8 HUMAN MOLECULAR GENETICS 6303 4% 1% 50
9 HUMAN GENETICS 1909 2% 0% 25
10 CLINICAL DYSMORPHOLOGY 1787 1% 1% 9

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 X LINKED MENTAL RETARDATION 1404949 10% 48% 118 Search X+LINKED+MENTAL+RETARDATION Search X+LINKED+MENTAL+RETARDATION
2 XLMR 641953 3% 63% 41 Search XLMR Search XLMR
3 PQBP1 496477 2% 100% 20 Search PQBP1 Search PQBP1
4 ARX 409195 3% 39% 42 Search ARX Search ARX
5 FG SYNDROME 353126 2% 68% 21 Search FG+SYNDROME Search FG+SYNDROME
6 BORJESON FORSSMAN LEHMANN SYNDROME 347534 1% 100% 14 Search BORJESON+FORSSMAN+LEHMANN+SYNDROME Search BORJESON+FORSSMAN+LEHMANN+SYNDROME
7 MRX 333726 2% 61% 22 Search MRX Search MRX
8 ARX GENE 322710 1% 100% 13 Search ARX+GENE Search ARX+GENE
9 ATR X SYNDROME 293961 1% 79% 15 Search ATR+X+SYNDROME Search ATR+X+SYNDROME
10 X LINKED INTELLECTUAL DISABILITY 273663 2% 53% 21 Search X+LINKED+INTELLECTUAL+DISABILITY Search X+LINKED+INTELLECTUAL+DISABILITY

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 LUBS, HA , STEVENSON, RE , SCHWARTZ, CE , (2012) FRAGILE X AND X-LINKED INTELLECTUAL DISABILITY: FOUR DECADES OF DISCOVERY.AMERICAN JOURNAL OF HUMAN GENETICS. VOL. 90. ISSUE 4. P. 579-590 54 67% 74
2 DE BROUWER, APM , YNTEMA, HG , KLEEFSTRA, T , LUGTENBERG, D , OUDAKKER, AR , DE VRIES, BBA , VAN BOKHOVEN, H , VAN ESCH, H , FRINTS, SGM , FROYEN, G , ET AL (2007) MUTATION FREQUENCIES OF X-LINKED MENTAL RETARDATION GENES IN FAMILIES FROM THE EUROMRX CONSORTIUM.HUMAN MUTATION. VOL. 28. ISSUE 2. P. - 58 73% 35
3 SHOUBRIDGE, C , FULLSTON, T , GECZ, J , (2010) ARX SPECTRUM DISORDERS: MAKING INROADS INTO THE MOLECULAR PATHOLOGY.HUMAN MUTATION. VOL. 31. ISSUE 8. P. 889-900 53 55% 56
4 LUBS, H , CHIURAZZI, P , ARENA, J , SCHWARTZ, C , TRANEBJAERG, L , NERI, G , (1999) XLMR GENES: UPDATE 1998.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 83. ISSUE 4. P. 237 -247 51 80% 58
5 ABEDINI, SS , KAHRIZI, K , BEHJATI, F , BANIHASHEMI, S , FIROOZABADI, SG , NAJMABADI, H , (2012) MUTATIONAL SCREENING OF ARX GENE IN IRANIAN FAMILIES WITH X-LINKED INTELLECTUAL DISABILITY.ARCHIVES OF IRANIAN MEDICINE. VOL. 15. ISSUE 6. P. 361 -365 32 89% 2
6 FULLSTON, T , FINNIS, M , HACKETT, A , HODGSON, B , BRUETON, L , BAYNAM, G , NORMAN, A , REISH, O , SHOUBRIDGE, C , GECZ, J , (2011) SCREENING AND CELL-BASED ASSESSMENT OF MUTATIONS IN THE ARISTALESS-RELATED HOMEOBOX (ARX) GENE.CLINICAL GENETICS. VOL. 80. ISSUE 6. P. 510-522 34 83% 9
7 POETA, L , FUSCO, F , DRONGITIS, D , SHOUBRIDGE, C , MANGANELLI, G , FILOSA, S , PACIOLLA, M , COURTNEY, M , COLLOMBAT, P , LIOI, MB , ET AL (2013) A REGULATORY PATH ASSOCIATED WITH X-LINKED INTELLECTUAL DISABILITY AND EPILEPSY LINKS KDM5C TO THE POLYALANINE EXPANSIONS IN ARX.AMERICAN JOURNAL OF HUMAN GENETICS. VOL. 92. ISSUE 1. P. 114-125 36 69% 12
8 MOEY, C , TOPPER, S , KARN, M , JOHNSON, AK , DAS, S , VIDAURRE, J , SHOUBRIDGE, C , (2016) REINITIATION OF MRNA TRANSLATION IN A PATIENT WITH X-LINKED INFANTILE SPASMS WITH A PROTEIN-TRUNCATING VARIANT IN ARX.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 24. ISSUE 5. P. 681 -689 34 72% 0
9 FRIOCOURT, G , PARNAVELAS, JG , (2010) MUTATIONS IN ARX RESULT IN SEVERAL DEFECTS INVOLVING GABAERGIC NEURONS.FRONTIERS IN CELLULAR NEUROSCIENCE. VOL. 4. ISSUE . P. - 44 54% 34
10 LUBS, HA , CHIURAZZI, P , ARENA, JF , SCHWARTZ, C , TRANEBJAERG, L , NERI, G , (1996) XLMR GENES: UPDATE 1996.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 64. ISSUE 1. P. 147-157 49 70% 74

Classes with closest relation at Level 1


Rank Class id link
1 30657 KBG SYNDROME//AARSKOG SCOTT SYNDROME//FGD1
2 25093 CHOROIDEREMIA//POU3F4//CHM GENE
3 6924 SUBTELOMERIC REARRANGEMENTS//ARRAY CGH//MBD5
4 2548 RETT SYNDROME//MECP2//CDKL5
5 25899 M27 BETA//REPEATED BETA RADIATION//CLONALITY
6 16660 COFFIN LOWRY SYNDROME//RSK2//PHOSPHOHISTONE H3
7 30643 GLYCEROL KINASE DEFICIENCY//COMPLEX GLYCEROL KINASE DEFICIENCY//KOHLSCHUTTER TONZ SYNDROME
8 18172 RHOMBENCEPHALOSYNAPSIS//PONTOCEREBELLAR HYPOPLASIA//CEREBELLAR AGENESIS
9 33881 TRAPP//SEDLIN//SEDL
10 6957 XIST//X CHROMOSOME INACTIVATION//X INACTIVATION

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