Class information for:
Level 1: SOTOS SYNDROME//NSD1//WEAVER SYNDROME

Basic class information

Class id #P Avg. number of
references
Database coverage
of references
21520 415 23.1 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
196 3       GENETICS & HEREDITY//FRAGILE X SYNDROME//AMERICAN JOURNAL OF MEDICAL GENETICS 53756
3882 2             SOTOS SYNDROME//NSD1//WEAVER SYNDROME 857
21520 1                   SOTOS SYNDROME//NSD1//WEAVER SYNDROME 415

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 SOTOS SYNDROME authKW 6776413 26% 87% 106
2 NSD1 authKW 1877761 8% 73% 35
3 WEAVER SYNDROME authKW 1507229 6% 79% 26
4 CEREBRAL GIGANTISM authKW 1328086 5% 95% 19
5 MARSHALL SMITH SYNDROME authKW 919724 4% 83% 15
6 OVERGROWTH authKW 457995 10% 14% 43
7 NSD1 GENE authKW 450665 2% 88% 7
8 OVERGROWTH SYNDROME authKW 345472 4% 26% 18
9 MULVIHILL SMITH SYNDROME authKW 306575 1% 83% 5
10 MOMO SYNDROME authKW 294313 1% 100% 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 6913 53% 0% 221
2 Pediatrics 1423 21% 0% 86
3 Clinical Neurology 59 7% 0% 28
4 Medical Ethics 52 1% 0% 3
5 Psychology, Developmental 47 2% 0% 9
6 Anthropology 26 1% 0% 6
7 Obstetrics & Gynecology 24 3% 0% 13
8 Orthopedics 18 2% 0% 10
9 Radiology, Nuclear Medicine & Medical Imaging 14 4% 0% 15
10 Anesthesiology 14 1% 0% 6

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 INT CONSORTIUM MED CARE HIBAKUSHA RADIAT LIFE S 98103 0% 67% 2
2 AO G RUMMO 73578 0% 100% 1
3 CANC GENOMICSE PROJECT 73578 0% 100% 1
4 CEREBRA NEURODEVEL DISORDERS 73578 0% 100% 1
5 CHILD NEUROL SERVHOSP CLIN 73578 0% 100% 1
6 CLIN NEUROPSICHIATRICA INFANTILE 73578 0% 100% 1
7 CLIN PEDIATAO 73578 0% 100% 1
8 CRISTALLOG RMN BIOL PHARMUMR 8015 73578 0% 100% 1
9 DT VON HAUNER CHILDRENS HOSP 73578 0% 100% 1
10 EPIDEMIOL CLIN DIFETTI CONGENITI 73578 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 28198 11% 1% 47
2 AMERICAN JOURNAL OF MEDICAL GENETICS 17027 11% 1% 45
3 CLINICAL DYSMORPHOLOGY 12918 3% 1% 14
4 JOURNAL OF MEDICAL GENETICS 7308 6% 0% 24
5 EUROPEAN JOURNAL OF MEDICAL GENETICS 4129 2% 1% 8
6 AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 3799 1% 1% 5
7 JAPANESE JOURNAL OF HUMAN GENETICS 2287 1% 1% 4
8 CLINICAL GENETICS 1734 3% 0% 11
9 EUROPEAN JOURNAL OF HUMAN GENETICS 977 2% 0% 7
10 PADIATRIE UND PADOLOGIE 825 0% 1% 1

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 SOTOS SYNDROME 6776413 26% 87% 106 Search SOTOS+SYNDROME Search SOTOS+SYNDROME
2 NSD1 1877761 8% 73% 35 Search NSD1 Search NSD1
3 WEAVER SYNDROME 1507229 6% 79% 26 Search WEAVER+SYNDROME Search WEAVER+SYNDROME
4 CEREBRAL GIGANTISM 1328086 5% 95% 19 Search CEREBRAL+GIGANTISM Search CEREBRAL+GIGANTISM
5 MARSHALL SMITH SYNDROME 919724 4% 83% 15 Search MARSHALL+SMITH+SYNDROME Search MARSHALL+SMITH+SYNDROME
6 OVERGROWTH 457995 10% 14% 43 Search OVERGROWTH Search OVERGROWTH
7 NSD1 GENE 450665 2% 88% 7 Search NSD1+GENE Search NSD1+GENE
8 OVERGROWTH SYNDROME 345472 4% 26% 18 Search OVERGROWTH+SYNDROME Search OVERGROWTH+SYNDROME
9 MULVIHILL SMITH SYNDROME 306575 1% 83% 5 Search MULVIHILL+SMITH+SYNDROME Search MULVIHILL+SMITH+SYNDROME
10 MOMO SYNDROME 294313 1% 100% 4 Search MOMO+SYNDROME Search MOMO+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 VISSER, R , MATSUMOTO, N , (2003) GENETICS OF SOTOS SYNDROME.CURRENT OPINION IN PEDIATRICS. VOL. 15. ISSUE 6. P. 598-606 77 88% 29
2 SOTOS, JF , (2014) SOTOS SYNDROME 1 AND 2.PEDIATRIC ENDOCRINOLOGY REVIEWS PER. VOL. 12. ISSUE 1. P. 2 -16 47 76% 2
3 LANE, C , MILNE, E , FREETH, M , (2016) COGNITION AND BEHAVIOUR IN SOTOS SYNDROME: A SYSTEMATIC REVIEW.PLOS ONE. VOL. 11. ISSUE 2. P. - 37 86% 0
4 BAUJAT, G , CORMIER-DAIRE, V , (2007) SOTOS SYNDROME.ORPHANET JOURNAL OF RARE DISEASES. VOL. 2. ISSUE . P. - 38 93% 39
5 OPITZ, JM , WEAVER, DW , REYNOLDS, JF , (1998) THE SYNDROMES OF SOTOS AND WEAVER: REPORTS AND REVIEW.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 79. ISSUE 4. P. 294-304 43 93% 70
6 DONNELLY, DE , TURNPENNY, P , MCCONNELL, VPM , (2011) PHENOTYPIC VARIABILITY IN A THREE-GENERATION NORTHERN IRISH FAMILY WITH SOTOS SYNDROME.CLINICAL DYSMORPHOLOGY. VOL. 20. ISSUE 4. P. 175 -181 28 100% 5
7 LEVENTOPOULOS, G , KITSIOU-TZELI, S , KRITIKOS, K , PSONI, S , MAVROU, A , KANAVAKIS, E , FRYSSIRA, H , (2009) A CLINICAL STUDY OF SOTOS SYNDROME PATIENTS WITH REVIEW OF THE LITERATURE.PEDIATRIC NEUROLOGY. VOL. 40. ISSUE 5. P. 357-364 28 93% 24
8 LEVENTOPOULOS, G , KITSIOU-TZELI, S , PSONI, S , MAVROU, A , KANAVAKIS, E , WILLEMS, P , FRYSSIRA, H , (2009) THREE NOVEL MUTATIONS IN GREEK SOTOS PATIENTS WITH RARE CLINICAL MANIFESTATIONS.HORMONE RESEARCH. VOL. 71. ISSUE 1. P. 45 -51 30 88% 5
9 TATTON-BROWN, K , MURRAY, A , HANKS, S , DOUGLAS, J , ARMSTRONG, R , BANKA, S , BIRD, LM , CLERICUZIO, CL , CORMIER-DAIRE, V , CUSHING, T , ET AL (2013) WEAVER SYNDROME AND EZH2 MUTATIONS: CLARIFYING THE CLINICAL PHENOTYPE.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 161. ISSUE 12. P. 2972-2980 27 79% 19
10 SHAW, AC , VAN BALKOM, IDC , BAUER, M , COLE, TRP , DELRUE, MA , VAN HAERINGEN, A , HOLMBERG, E , KNIGHT, SJL , MORTIER, G , NAMPOOTHIRI, S , ET AL (2010) PHENOTYPE AND NATURAL HISTORY IN MARSHALL-SMITH SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 152A. ISSUE 11. P. 2714 -2726 24 92% 11

Classes with closest relation at Level 1



Rank Class id link
1 9519 SILVER RUSSELL SYNDROME//BECKWITH WIEDEMANN SYNDROME//UNIPARENTAL DISOMY
2 17632 GLYPICAN 3//GPC3//SIMPSON GOLABI BEHMEL SYNDROME
3 28779 TALL STATURE//TALL GIRLS//ASHLEY TREATMENT
4 24132 CRI DU CHAT SYNDROME//CRI DU CHAT//CHROMOSOME 5
5 6924 SUBTELOMERIC REARRANGEMENTS//ARRAY CGH//MBD5
6 26264 KABUKI SYNDROME//KABUKI MAKE UP SYNDROME//NIIKAWA KUROKI SYNDROME
7 25706 PALLISTER KILLIAN SYNDROME//TETRASOMY 12P//ISOCHROMOSOME 12P
8 30234 MEGALOCORNEA//NEUHAUSER SYNDROME//ANTERIOR MEGALOPHTHALMOS
9 36950 NPAS4//NPAS3//LE PAS
10 24588 SMITH MAGENIS SYNDROME//RAI1//POTOCKI LUPSKI SYNDROME

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