Class information for:
Level 1: SMITH MAGENIS SYNDROME//RAI1//POTOCKI LUPSKI SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
24588 307 32.1 81%


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
395 2             GENETICS & HEREDITY//ANNALES DE GENETIQUE//HOLOPROSENCEPHALY 16816
24588 1                   SMITH MAGENIS SYNDROME//RAI1//POTOCKI LUPSKI SYNDROME 307

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 SMITH MAGENIS SYNDROME authKW 6335677 26% 79% 81
2 RAI1 authKW 1808419 7% 91% 20
3 POTOCKI LUPSKI SYNDROME authKW 1293022 4% 100% 13
4 17P112 authKW 925770 4% 85% 11
5 CHROMOSOME 17P112 authKW 541519 2% 78% 7
6 DELETION 17P112 authKW 497316 2% 100% 5
7 17P112 DELETION authKW 443058 2% 64% 7
8 PTLS authKW 397853 1% 100% 4
9 DUPLICATION 17P112 authKW 318281 1% 80% 4
10 SMITH MAGENIS SYNDROME SMS authKW 318281 1% 80% 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 6967 62% 0% 190
2 Education, Special 368 4% 0% 11
3 Rehabilitation 269 7% 0% 20
4 Pediatrics 237 10% 0% 32
5 Medical Ethics 207 2% 0% 5
6 Biotechnology & Applied Microbiology 63 7% 0% 23
7 Psychology, Developmental 39 2% 0% 7
8 Biochemistry & Molecular Biology 29 13% 0% 39
9 Clinical Neurology 25 6% 0% 17
10 Medicine, Research & Experimental 20 4% 0% 13

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 ANOMALIES DEV 99463 0% 100% 1
2 BIOCHEM MOL BIOL ANTHROPOL 99463 0% 100% 1
3 CLIN CYTOGENET UCLH 99463 0% 100% 1
4 CLIN NEUROSCI POPULAT GENET EMMS 99463 0% 100% 1
5 CLIN PATHOL CYTOL HUMAN GENET 99463 0% 100% 1
6 CYST FIRBOSIS 99463 0% 100% 1
7 CYTOGENET FETAL PATHOL OBSTET GYNECOL 99463 0% 100% 1
8 CYTOGENET POSTNATALE 99463 0% 100% 1
9 EMMS NAZARETH HOSP 99463 0% 100% 1
10 GEN HUMANA 99463 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 12567 9% 0% 27
2 AMERICAN JOURNAL OF MEDICAL GENETICS 8902 9% 0% 28
3 AMERICAN JOURNAL OF HUMAN GENETICS 3155 5% 0% 16
4 ANNALES DE GENETIQUE 3118 2% 1% 6
5 GENETIC COUNSELING 2633 2% 1% 5
6 JOURNAL OF MEDICAL GENETICS 2067 4% 0% 11
7 PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS 1847 1% 1% 2
8 JOURNAL OF PHYSICAL THERAPY SCIENCE 1790 2% 0% 7
9 CLINICAL GENETICS 1571 3% 0% 9
10 GENOMICS 1441 4% 0% 11

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 SMITH MAGENIS SYNDROME 6335677 26% 79% 81 Search SMITH+MAGENIS+SYNDROME Search SMITH+MAGENIS+SYNDROME
2 RAI1 1808419 7% 91% 20 Search RAI1 Search RAI1
3 POTOCKI LUPSKI SYNDROME 1293022 4% 100% 13 Search POTOCKI+LUPSKI+SYNDROME Search POTOCKI+LUPSKI+SYNDROME
4 17P112 925770 4% 85% 11 Search 17P112 Search 17P112
5 CHROMOSOME 17P112 541519 2% 78% 7 Search CHROMOSOME+17P112 Search CHROMOSOME+17P112
6 DELETION 17P112 497316 2% 100% 5 Search DELETION+17P112 Search DELETION+17P112
7 17P112 DELETION 443058 2% 64% 7 Search 17P112+DELETION Search 17P112+DELETION
8 PTLS 397853 1% 100% 4 Search PTLS Search PTLS
9 DUPLICATION 17P112 318281 1% 80% 4 Search DUPLICATION+17P112 Search DUPLICATION+17P112
10 SMITH MAGENIS SYNDROME SMS 318281 1% 80% 4 Search SMITH+MAGENIS+SYNDROME+SMS Search SMITH+MAGENIS+SYNDROME+SMS

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 POISSON, A , NICOLAS, A , COCHAT, P , SANLAVILLE, D , RIGARD, C , DE LEERSNYDER, H , FRANCO, P , DES PORTES, V , EDERY, P , DEMILY, C , (2015) BEHAVIORAL DISTURBANCE AND TREATMENT STRATEGIES IN SMITH-MAGENIS SYNDROME.ORPHANET JOURNAL OF RARE DISEASES. VOL. 10. ISSUE . P. - 48 76% 3
2 POISSON, A , NICOLAS, A , SANLAVILLE, D , COCHAT, P , DE LEERSNYDER, H , RIGARD, C , FRANCO, P , DES PORTES, V , EDERY, P , DEMILY, C , (2015) SMITH-MAGENIS SYNDROME IS AN ASSOCIATION OF BEHAVIORAL AND SLEEP/WAKE CIRCADIAN RHYTHM DISORDERS.ARCHIVES DE PEDIATRIE. VOL. 22. ISSUE 6. P. 638 -645 43 90% 0
3 EDELMAN, EA , GIRIRAJAN, S , FINUCANE, B , PATEL, PI , LUPSKI, JR , SMITH, ACM , ELSEA, SH , (2007) GENDER, GENOTYPE, AND PHENOTYPE DIFFERENCES IN SMITH-MAGENIS SYNDROME: A META-ANALYSIS OF 105 CASES.CLINICAL GENETICS. VOL. 71. ISSUE 6. P. 540-550 51 80% 57
4 ELSEA, SH , GIRIRAJAN, S , (2008) SMITH-MAGENIS SYNDROME.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 16. ISSUE 4. P. 412 -421 43 86% 78
5 ELSEA, SH , WILLIAMS, SR , (2011) SMITH-MAGENIS SYNDROME: HAPLOINSUFFICIENCY OF RAI1 RESULTS IN ALTERED GENE REGULATION IN NEUROLOGICAL AND METABOLIC PATHWAYS.EXPERT REVIEWS IN MOLECULAR MEDICINE. VOL. 13. ISSUE . P. - 49 72% 12
6 GROPMAN, AL , ELSEA, S , DUNCAN, WC , SMITH, ACM , (2007) NEW DEVELOPMENTS IN SMITH-MAGENIS SYNDROME (DEL 17P11.2).CURRENT OPINION IN NEUROLOGY. VOL. 20. ISSUE 2. P. 125-134 42 76% 24
7 CARMONA-MORA, P , ENCINA, CA , CANALES, CP , CAO, L , MOLINA, J , KAIRATH, P , YOUNG, JI , WALZ, K , (2010) FUNCTIONAL AND CELLULAR CHARACTERIZATION OF HUMAN RETINOIC ACID INDUCED 1 (RAI1) MUTATIONS ASSOCIATED WITH SMITH-MAGENIS SYNDROME.BMC MOLECULAR BIOLOGY. VOL. 11. ISSUE . P. - 35 78% 14
8 POTOCKI, L , BI, WM , TREADWELL-DEERING, D , CARVALHO, CMB , EIFERT, A , FRIEDMAN, EM , GLAZE, D , KRULL, K , LEE, JA , LEWIS, RA , ET AL (2007) CHARACTERIZATION OF POTOCKI-LUPSKI SYNDROME (DUP(17)(P11.2P11.2)) AND DELINEATION OF A DOSAGE-SENSITIVE CRITICAL INTERVAL THAT CAN CONVEY AN AUTISM PHENOTYPE.AMERICAN JOURNAL OF HUMAN GENETICS. VOL. 80. ISSUE 4. P. 633 -649 37 57% 149
9 TUG, E , CINE, N , AYDIN, H , (2011) A TURKISH PATIENT WITH LARGE 17P11.2 DELETION PRESENTING WITH SMITH MAGENIS SYNDROME.GENETIC COUNSELING. VOL. 22. ISSUE 1. P. 11 -19 25 96% 1
10 NIJIM, Y , ADAWI, A , BISHARAT, B , BOWIRRAT, A , (2016) FIRST CASE REPORT OF SMITH-MAGENIS SYNDROME (SMS) AMONG THE ARAB COMMUNITY IN NAZARETH VIEW AND OVERVIEW.MEDICINE. VOL. 95. ISSUE 3. P. - 23 92% 0

Classes with closest relation at Level 1


Rank Class id link
1 34185 FLIGHTLESS I//TTYH1//TTYH2
2 6924 SUBTELOMERIC REARRANGEMENTS//ARRAY CGH//MBD5
3 5569 COPY NUMBER VARIATION//COPY NUMBER VARIANTS//STRUCTURAL VARIATION
4 13532 LISSENCEPHALY//LIS1//MILLER DIEKER SYNDROME
5 24132 CRI DU CHAT SYNDROME//CRI DU CHAT//CHROMOSOME 5
6 1380 CHARCOT MARIE TOOTH DISEASE//PMP22//CHARCOT MARIE TOOTH
7 29024 TRISOMY 10Q//MONOSOMY 10Q//DISTAL 10Q TRISOMY
8 5669 WILLIAMS SYNDROME//WILLIAMS BEUREN SYNDROME//SUPRAVALVULAR AORTIC STENOSIS
9 10418 SUPERNUMERARY MARKER CHROMOSOME//MARKER CHROMOSOME//SMALL SUPERNUMERARY MARKER CHROMOSOME
10 2365 PRADER WILLI SYNDROME//ANGELMAN SYNDROME//UBE3A

Go to start page