Class information for:
Level 1: COHEN SYNDROME//CHORIORETINAL DYSPLASIA//COH1

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
26340 257 20.4 64%


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
365 3       MICROTUBULES//MITOSIS//KINETOCHORE 34118
3382 2             LISSENCEPHALY//SECKEL SYNDROME//LIS1 1656
26340 1                   COHEN SYNDROME//CHORIORETINAL DYSPLASIA//COH1 257

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 COHEN SYNDROME authKW 4556268 16% 91% 42
2 CHORIORETINAL DYSPLASIA authKW 1198044 4% 92% 11
3 COH1 authKW 844901 3% 89% 8
4 BRAT1 authKW 712887 2% 100% 6
5 VPS13B authKW 712887 2% 100% 6
6 GIOVANNI MARIA LANCISI authKW 356443 1% 100% 3
7 MCLMR authKW 356443 1% 100% 3
8 TRAPPED NEUTROPHIL SYNDROME authKW 356443 1% 100% 3
9 MICROCEPHALY authKW 287448 17% 6% 44
10 CHORIORETINOPATHY authKW 283045 4% 26% 9

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 4099 52% 0% 134
2 Pediatrics 531 16% 0% 42
3 Ophthalmology 354 11% 0% 27
4 Medical Ethics 158 2% 0% 4
5 Clinical Neurology 123 11% 0% 28
6 Anatomy & Morphology 64 2% 0% 6
7 Neuroimaging 33 2% 0% 4
8 Obstetrics & Gynecology 27 4% 0% 10
9 Radiology, Nuclear Medicine & Medical Imaging 15 4% 0% 11
10 Developmental Biology 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 DISABLED PERSONS 158418 1% 67% 2
2 MENTAL HLTH SOCIAL WELF 158418 1% 67% 2
3 BIOL FDN 118814 0% 100% 1
4 C HOOFT CHILDRENS HOSP 118814 0% 100% 1
5 CLIN CHILD NEUROPSYCHIAT AUDIOPHONIATRY DERMATO 118814 0% 100% 1
6 EPILEPSY GENET PROGRAM EPILEPSY CLIN NEUROP 118814 0% 100% 1
7 GEN HOSP FLORENCIO VARELA 118814 0% 100% 1
8 GENET ANOMALIES DEV GAD EA4271 118814 0% 100% 1
9 GENET THER IE CECITES RETINIENNES 118814 0% 100% 1
10 GRPYOKOHAMA TSURUMI KU 118814 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 13913 12% 0% 32
2 CLINICAL GENETICS 11299 9% 0% 22
3 OPHTHALMIC GENETICS 7153 2% 1% 6
4 CLINICAL DYSMORPHOLOGY 5212 3% 1% 7
5 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 3469 5% 0% 13
6 JOURNAL OF MEDICAL GENETICS 2945 5% 0% 12
7 NEUROPEDIATRICS 2860 3% 0% 7
8 GENETIC COUNSELING 2012 2% 0% 4
9 METABOLIC AND PEDIATRIC OPHTHALMOLOGY 2012 0% 2% 1
10 OPHTHALMIC PAEDIATRICS AND GENETICS 1247 1% 1% 2

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 COHEN SYNDROME 4556268 16% 91% 42 Search COHEN+SYNDROME Search COHEN+SYNDROME
2 CHORIORETINAL DYSPLASIA 1198044 4% 92% 11 Search CHORIORETINAL+DYSPLASIA Search CHORIORETINAL+DYSPLASIA
3 COH1 844901 3% 89% 8 Search COH1 Search COH1
4 BRAT1 712887 2% 100% 6 Search BRAT1 Search BRAT1
5 VPS13B 712887 2% 100% 6 Search VPS13B Search VPS13B
6 GIOVANNI MARIA LANCISI 356443 1% 100% 3 Search GIOVANNI+MARIA+LANCISI Search GIOVANNI+MARIA+LANCISI
7 MCLMR 356443 1% 100% 3 Search MCLMR Search MCLMR
8 TRAPPED NEUTROPHIL SYNDROME 356443 1% 100% 3 Search TRAPPED+NEUTROPHIL+SYNDROME Search TRAPPED+NEUTROPHIL+SYNDROME
9 MICROCEPHALY 287448 17% 6% 44 Search MICROCEPHALY Search MICROCEPHALY
10 CHORIORETINOPATHY 283045 4% 26% 9 Search CHORIORETINOPATHY Search CHORIORETINOPATHY

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 KIVITIE-KALLIO, S , NORIO, R , (2001) COHEN SYNDROME: ESSENTIAL FEATURES, NATURAL HISTORY, AND HETEROGENEITY.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 102. ISSUE 2. P. 125-135 36 97% 61
2 TABAN, M , MEMORACION-PERALTA, DSA , WANG, H , AL-GAZALI, LI , TRABOULSI, EI , (2007) COHEN SYNDROME: REPORT OF NINE CASES AND REVIEW OF THE LITERATURE, WITH EMPHASIS ON OPHTHALMIC FEATURES.JOURNAL OF AAPOS. VOL. 11. ISSUE 5. P. 431-437 29 100% 11
3 CHANDLER, KE , KIDD, A , AL-GAZALI, L , KOLEHMAINEN, J , LEHESJOKI, AE , BLACK, GCM , CLAYTON-SMITH, J , (2003) DIAGNOSTIC CRITERIA, CLINICAL CHARACTERISTICS, AND NATURAL HISTORY OF COHEN SYNDROME.JOURNAL OF MEDICAL GENETICS. VOL. 40. ISSUE 4. P. 233-241 30 86% 60
4 KIVITIE-KALLIO, S , SUMMANEN, P , RAITTA, C , NORIO, R , (2000) OPHTHALMOLOGIC FINDINGS IN COHEN SYNDROME - A LONG-TERM FOLLOW-UP.OPHTHALMOLOGY. VOL. 107. ISSUE 9. P. 1737 -1745 32 91% 17
5 EL CHEHADEH-DJEBBAR, S , BLAIR, E , HOLDER-ESPINASSE, M , MONCLA, A , FRANCES, AM , RIO, M , DEBRAY, FG , RUMP, P , MASUREL-PAULET, A , GIGOT, N , ET AL (2013) CHANGING FACIAL PHENOTYPE IN COHEN SYNDROME: TOWARDS CLUES FOR AN EARLIER DIAGNOSIS.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 21. ISSUE 7. P. 736-742 20 100% 5
6 IMAGAMA, S , TSUJI, T , OHARA, T , KATAYAMA, Y , GOTO, M , ISHIGURO, N , KAWAKAMI, N , (2013) SURGICAL TREATMENT FOR KYPHOSCOLIOSIS IN COHEN SYNDROME.NAGOYA JOURNAL OF MEDICAL SCIENCE. VOL. 75. ISSUE 3-4. P. 279 -286 18 100% 1
7 MASON, SL , JEPSON, R , MALTMAN, M , BATCHELOR, DJ , (2014) PRESENTATION AND MANAGEMENT OF TRAPPED NEUTROPHIL SYNDROME (TNS) IN UK BORDER COLLIES.JOURNAL OF SMALL ANIMAL PRACTICE. VOL. 55. ISSUE 1. P. 57 -60 15 100% 1
8 CHANDLER, KE , MOFFETT, M , CLAYTON-SMITH, J , BAKER, GA , (2003) NEUROPSYCHOLOGICAL ASSESSMENT OF A GROUP OF UK PATIENTS WITH COHEN SYNDROME.NEUROPEDIATRICS. VOL. 34. ISSUE 1. P. 7 -13 21 91% 5
9 KIVITIE-KALLIO, S , LARSEN, A , KAJASTO, K , NORIO, R , (1999) NEUROLOGICAL AND PSYCHOLOGICAL FINDINGS IN PATIENTS WITH COHEN SYNDROME: A STUDY OF 18 PATIENTS AGED 11 MONTHS TO 57 YEARS.NEUROPEDIATRICS. VOL. 30. ISSUE 4. P. 181 -189 27 79% 14
10 KIVITIE-KALLIO, S , ERONEN, M , LIPSANEN-NYMAN, M , MARTTINEN, E , NORIO, R , (1999) COHEN SYNDROME: EVALUATION OF ITS CARDIAC, ENDOCRINE AND RADIOLOGICAL FEATURES.CLINICAL GENETICS. VOL. 56. ISSUE 1. P. 41 -50 22 92% 18

Classes with closest relation at Level 1


Rank Class id link
1 18053 SECKEL SYNDROME//ASPM//MCPH1
2 16424 ZIKA VIRUS//ZIKA//MICROCEPHALY
3 23460 NORRIE DISEASE//FAMILIAL EXUDATIVE VITREORETINOPATHY//NORRIN
4 30096 MARINESCO SJOGREN SYNDROME//SIL1//WARBURG MICRO SYNDROME
5 33974 CONJOINED NERVE ROOTS//NERVE ROOT ANOMALY//NORADRENERGIC HISTOFLUORESCENCE
6 5260 FETAL MRI//FETUS CENTRAL NERVOUS SYSTEM//VENTRICULOMEGALY
7 32925 MYELOKATHEXIS//WHIM SYNDROME//INSERM UMR S996
8 19553 APLASIA CUTIS CONGENITA//ADAMS OLIVER SYNDROME//CUTIS MARMORATA TELANGIECTATICA CONGENITA
9 33169 CONGENITAL RADIOULNAR SYNOSTOSIS//RADIOULNAR SYNOSTOSIS//ONE BONE FOREARM
10 32237 ALSTROM SYNDROME//ALMS1//ALMS1 GENE

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