Class information for:
Level 1: NOONAN SYNDROME//COSTELLO SYNDROME//CARDIO FACIO CUTANEOUS SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
9743 1124 27.6 75%


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
636 3       TIGHT JUNCTION//NOONAN SYNDROME//CLAUDIN 12838
1574 2             TIGHT JUNCTION//NOONAN SYNDROME//CLAUDIN 7292
9743 1                   NOONAN SYNDROME//COSTELLO SYNDROME//CARDIO FACIO CUTANEOUS SYNDROME 1124

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 NOONAN SYNDROME authKW 7982500 33% 79% 374
2 COSTELLO SYNDROME authKW 3553068 13% 93% 141
3 CARDIO FACIO CUTANEOUS SYNDROME authKW 2176045 7% 97% 83
4 RASOPATHY authKW 1843203 8% 79% 86
5 LEOPARD SYNDROME authKW 1495577 6% 79% 70
6 PTPN11 authKW 1339347 8% 57% 86
7 PTPN11 GENE authKW 660107 2% 90% 27
8 SHOC2 authKW 392531 2% 85% 17
9 CFC SYNDROME authKW 325981 1% 100% 12
10 NOONAN authKW 305600 1% 75% 15

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 11806 43% 0% 479
2 Pediatrics 3857 21% 0% 233
3 Dermatology 665 6% 0% 71
4 Endocrinology & Metabolism 176 6% 0% 68
5 Cardiac & Cardiovascular System 165 6% 0% 68
6 Medical Ethics 103 1% 0% 7
7 Hematology 58 3% 0% 34
8 Clinical Neurology 33 4% 0% 45
9 Andrology 28 0% 0% 4
10 Medicine, General & Internal 23 4% 0% 44

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 DIPARTIMENTO BIOL CELLULARE NEUROSCI 95804 2% 17% 21
2 IST CLIN PEDIAT 94294 2% 17% 21
3 DIPARTIMENTO EMATOL ONCOL MED MOL 87293 1% 21% 15
4 UNIV HOSP PRAGUE 61120 0% 75% 3
5 ENDOCRINOL GENET UNIT LIM 25 54330 0% 100% 2
6 GENOM MEDSTEM CELL PROGRAM 54330 0% 100% 2
7 INSERMUMR S1131 54330 0% 100% 2
8 UNIV HOSP MAGDEBURG 41381 1% 19% 8
9 HORMONIOS GENET MOL LIM 42UNIDADE ENDOCRIN 36219 0% 67% 2
10 MAXILLA IAL SURG 36219 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 PART A 101891 13% 3% 147
2 AMERICAN JOURNAL OF MEDICAL GENETICS 12655 6% 1% 64
3 EUROPEAN JOURNAL OF MEDICAL GENETICS 6877 2% 1% 17
4 JOURNAL OF MEDICAL GENETICS 6732 3% 1% 38
5 AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 4538 1% 2% 9
6 CLINICAL GENETICS 4145 2% 1% 28
7 CLINICAL DYSMORPHOLOGY 4095 1% 1% 13
8 HORMONE RESEARCH 3748 2% 1% 22
9 EUROPEAN JOURNAL OF HUMAN GENETICS 2946 2% 1% 20
10 JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY 2676 2% 1% 19

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 NOONAN SYNDROME 7982500 33% 79% 374 Search NOONAN+SYNDROME Search NOONAN+SYNDROME
2 COSTELLO SYNDROME 3553068 13% 93% 141 Search COSTELLO+SYNDROME Search COSTELLO+SYNDROME
3 CARDIO FACIO CUTANEOUS SYNDROME 2176045 7% 97% 83 Search CARDIO+FACIO+CUTANEOUS+SYNDROME Search CARDIO+FACIO+CUTANEOUS+SYNDROME
4 RASOPATHY 1843203 8% 79% 86 Search RASOPATHY Search RASOPATHY
5 LEOPARD SYNDROME 1495577 6% 79% 70 Search LEOPARD+SYNDROME Search LEOPARD+SYNDROME
6 PTPN11 1339347 8% 57% 86 Search PTPN11 Search PTPN11
7 PTPN11 GENE 660107 2% 90% 27 Search PTPN11+GENE Search PTPN11+GENE
8 SHOC2 392531 2% 85% 17 Search SHOC2 Search SHOC2
9 CFC SYNDROME 325981 1% 100% 12 Search CFC+SYNDROME Search CFC+SYNDROME
10 NOONAN 305600 1% 75% 15 Search NOONAN Search NOONAN

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 ROMANO, AA , ALLANSON, JE , DAHLGREN, J , GELB, BD , HALL, B , PIERPONT, ME , ROBERTS, AE , ROBINSON, W , TAKEMOTO, CM , NOONAN, JA , (2010) NOONAN SYNDROME: CLINICAL FEATURES, DIAGNOSIS, AND MANAGEMENT GUIDELINES.PEDIATRICS. VOL. 126. ISSUE 4. P. 746 -759 104 95% 124
2 ROBERTS, AE , ALLANSON, JE , TARTAGLIA, M , GELB, BD , (2013) NOONAN SYNDROME.LANCET. VOL. 381. ISSUE 9863. P. 333 -342 85 80% 88
3 LIN, AE , O'BRIEN, B , DEMMER, LA , ALMEDA, KK , BLANCO, CL , GLASOW, PF , BERUL, CI , HAMILTON, R , INNES, AM , LAUZON, JL , ET AL (2009) PRENATAL FEATURES OF COSTELLO SYNDROME: ULTRASONOGRAPHIC FINDINGS AND ATRIAL TACHYCARDIA.PRENATAL DIAGNOSIS. VOL. 29. ISSUE 7. P. 682-690 64 97% 18
4 LIN, AE , ALEXANDER, ME , COLAN, SD , KERR, B , RAUEN, KA , NOONAN, J , BAFFA, J , HOPKINS, E , SOL-CHURCH, K , LIMONGELLI, G , ET AL (2011) CLINICAL, PATHOLOGICAL, AND MOLECULAR ANALYSES OF CARDIOVASCULAR ABNORMALITIES IN COSTELLO SYNDROME: A RAS/MAPK PATHWAY SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 155A. ISSUE 3. P. 486 -507 66 86% 22
5 TAFAZOLI, A , ESHRAGHI, P , KOLETI, ZK , ABBASZADEGAN, M , (2017) NOONAN SYNDROME - A NEW SURVEY.ARCHIVES OF MEDICAL SCIENCE. VOL. 13. ISSUE 1. P. 215 -222 60 87% 0
6 TARTAGLIA, M , GELB, BD , ZENKER, M , (2011) NOONAN SYNDROME AND CLINICALLY RELATED DISORDERS.BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM. VOL. 25. ISSUE 1. P. 161 -179 66 68% 93
7 PIERPONT, MEM , MAGOULAS, PL , ADI, S , KAVAMURA, MI , NERI, G , NOONAN, J , PIERPONT, EI , REINKER, K , ROBERTS, AE , SHANKAR, S , ET AL (2014) CARDIO-FACIO-CUTANEOUS SYNDROME: CLINICAL FEATURES, DIAGNOSIS, AND MANAGEMENT GUIDELINES.PEDIATRICS. VOL. 134. ISSUE 4. P. E1149 -E1162 57 86% 13
8 CIZMAROVA, M , HLINKOVA, K , BERTOK, S , KOTNIK, P , DUBA, HC , BERTALAN, R , POLOCKOVA, K , KOSTALOVA, L , PRIBILINCOVA, Z , HLAVATA, A , ET AL (2016) NEW MUTATIONS ASSOCIATED WITH RASOPATHIES IN A CENTRAL EUROPEAN POPULATION AND GENOTYPE-PHENOTYPE CORRELATIONS.ANNALS OF HUMAN GENETICS. VOL. 80. ISSUE 1. P. 50 -62 49 88% 3
9 SMPOKOU, P , ZAND, DJ , ROSENBAUM, KN , SUMMAR, ML , (2015) MALIGNANCY IN NOONAN SYNDROME AND RELATED DISORDERS.CLINICAL GENETICS. VOL. 88. ISSUE 6. P. 516 -522 49 94% 8
10 AOKI, Y , NIIHORI, T , INOUE, S , MATSUBARA, Y , (2016) RECENT ADVANCES IN RASOPATHIES.JOURNAL OF HUMAN GENETICS. VOL. 61. ISSUE 1. P. 33 -39 43 61% 16

Classes with closest relation at Level 1


Rank Class id link
1 9250 SHP2//SHP 2//SHP 1
2 17423 JUVENILE MYELOMONOCYTIC LEUKEMIA//JMML//JUVENILE MYELOMONOCYTIC LEUKAEMIA
3 12059 MIRROR SYNDROME//PLEUROAMNIOTIC SHUNT//BALLANTYNE SYNDROME
4 1032 NEUROFIBROMATOSIS TYPE 1//NF1//NEUROFIBROMATOSIS
5 12897 BROWN TUMOR//CHERUBISM//CENTRAL GIANT CELL GRANULOMA
6 26478 GAPO SYNDROME//ICHTHYOSIS FOLLICULARIS//IFAP SYNDROME
7 4031 RAS//RAS PROTEINS//ONCOGENIC RAS P21
8 37368 GERSTMANNS SYNDROME//ELEVATED SKULL FRACTURE//FINGER AGNOSIA
9 13692 CARNEY COMPLEX//SECT ENDOCRINOL GENET//PPNAD
10 36872 FAM83D//FAM83B//ANAT DEV REGENERAT BIOL

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