Class information for:
Level 1: WAARDENBURG SYNDROME//PAX3//KLEIN WAARDENBURG SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
21001 437 32.7 69%


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
6 4 GASTROENTEROLOGY & HEPATOLOGY//ONCOLOGY//SURGERY 1371034
337 3       IRRITABLE BOWEL SYNDROME//CONSTIPATION//ENTERIC NERVOUS SYSTEM 37464
2417 2             HIRSCHSPRUNGS DISEASE//HIRSCHSPRUNG DISEASE//AGANGLIONOSIS 4148
21001 1                   WAARDENBURG SYNDROME//PAX3//KLEIN WAARDENBURG SYNDROME 437

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 WAARDENBURG SYNDROME authKW 4440875 22% 67% 95
2 PAX3 authKW 368955 9% 14% 39
3 KLEIN WAARDENBURG SYNDROME authKW 349370 1% 100% 5
4 PCWH authKW 349370 1% 100% 5
5 SHAH WAARDENBURG SYNDROME authKW 342379 2% 70% 7
6 NABLUS MASK LIKE FACIAL SYNDROME authKW 279496 1% 100% 4
7 DYSTOPIA CANTHORUM authKW 223595 1% 80% 4
8 SOX10 authKW 213686 6% 12% 26
9 BLUE IRIS authKW 209622 1% 100% 3
10 SOX10 GENE authKW 186328 1% 67% 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 3750 39% 0% 169
2 Otorhinolaryngology 1375 12% 0% 53
3 Pediatrics 554 13% 0% 57
4 Ophthalmology 204 6% 0% 28
5 Developmental Biology 153 4% 0% 18
6 Biochemistry & Molecular Biology 125 18% 0% 79
7 Dermatology 112 4% 0% 19
8 Cell Biology 65 8% 0% 36
9 Medical Ethics 49 1% 0% 3
10 Biotechnology & Applied Microbiology 34 5% 0% 23

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 EPSTEIN S MOL OTOL 139748 0% 100% 2
2 NEURAL TUBE 139748 0% 100% 2
3 BIOL PATHOL MELANOCYT CELLS 69874 0% 100% 1
4 BIOMEDICINE SEVILLE IBISCSIC 69874 0% 100% 1
5 BURCIN ENGIN INAN DIAG TRAINING 69874 0% 100% 1
6 CHU CLERMONT FERRANDUFR MED 69874 0% 100% 1
7 CLIN POLICLIN CHILD ADOLESCENT MED 69874 0% 100% 1
8 CLIN POLICLIN DIAGNOST RADIOL 69874 0% 100% 1
9 DEAF SERV 69874 0% 100% 1
10 DERMATOL 107 DERMATOL 69874 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 2565 4% 0% 18
2 HUMAN MOLECULAR GENETICS 2565 4% 0% 19
3 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2356 3% 0% 14
4 JOURNAL OF MEDICAL GENETICS 2349 3% 0% 14
5 INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY 2024 3% 0% 14
6 OPHTHALMIC PAEDIATRICS AND GENETICS 1649 1% 1% 3
7 METABOLIC AND PEDIATRIC OPHTHALMOLOGY 1182 0% 2% 1
8 HUMAN MUTATION 1114 2% 0% 8
9 GENOMICS 1006 3% 0% 11
10 CLINICAL GENETICS 866 2% 0% 8

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 WAARDENBURG SYNDROME 4440875 22% 67% 95 Search WAARDENBURG+SYNDROME Search WAARDENBURG+SYNDROME
2 PAX3 368955 9% 14% 39 Search PAX3 Search PAX3
3 KLEIN WAARDENBURG SYNDROME 349370 1% 100% 5 Search KLEIN+WAARDENBURG+SYNDROME Search KLEIN+WAARDENBURG+SYNDROME
4 PCWH 349370 1% 100% 5 Search PCWH Search PCWH
5 SHAH WAARDENBURG SYNDROME 342379 2% 70% 7 Search SHAH+WAARDENBURG+SYNDROME Search SHAH+WAARDENBURG+SYNDROME
6 NABLUS MASK LIKE FACIAL SYNDROME 279496 1% 100% 4 Search NABLUS+MASK+LIKE+FACIAL+SYNDROME Search NABLUS+MASK+LIKE+FACIAL+SYNDROME
7 DYSTOPIA CANTHORUM 223595 1% 80% 4 Search DYSTOPIA+CANTHORUM Search DYSTOPIA+CANTHORUM
8 SOX10 213686 6% 12% 26 Search SOX10 Search SOX10
9 BLUE IRIS 209622 1% 100% 3 Search BLUE+IRIS Search BLUE+IRIS
10 SOX10 GENE 186328 1% 67% 4 Search SOX10+GENE Search SOX10+GENE

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 SONG, J , FENG, Y , ACKE, FR , COUCKE, P , VLEMINCKX, K , DHOOGE, IJ , (2016) HEARING LOSS IN WAARDENBURG SYNDROME: A SYSTEMATIC REVIEW.CLINICAL GENETICS. VOL. 89. ISSUE 4. P. 416 -425 74 75% 2
2 PINGAULT, V , ENTE, D , DASTOT-LE MOAL, F , GOOSSENS, M , MARLIN, S , BONDURAND, N , (2010) REVIEW AND UPDATE OF MUTATIONS CAUSING WAARDENBURG SYNDROME.HUMAN MUTATION. VOL. 31. ISSUE 4. P. 391 -406 84 46% 143
3 HAZAN, F , OZTURK, AT , ADIBELLI, H , UNAL, N , TUKUN, A , (2013) A NOVEL MISSENSE MUTATION OF THE PAIRED BOX 3 GENE IN A TURKISH FAMILY WITH WAARDENBURG SYNDROME TYPE 1.MOLECULAR VISION. VOL. 19. ISSUE . P. 196-202 29 83% 5
4 SALVATORE, S , CARNEVALE, C , INFUSSI, R , ARRICO, L , MAFRICI, M , PLATEROTI, AM , VINGOLO, EM , (2012) WAARDENBURG SYNDROME: A REVIEW OF LITERATURE AND CASE REPORTS.CLINICA TERAPEUTICA. VOL. 163. ISSUE 2. P. E85-E94 26 87% 2
5 DUMAYAS, GL , CAPO-APONTE, JE , (2015) CASE REPORT: WAARDENBURG SYNDROME.MILITARY MEDICINE. VOL. 180. ISSUE 3. P. E381 -E387 18 90% 0
6 DESTEFANO, AL , CUPPLES, LA , ARNOS, KS , ASHER, JH , BALDWIN, CT , BLANTON, S , CAREY, ML , DA SILVA, EO , FRIEDMAN, TB , GREENBERG, J , ET AL (1998) CORRELATION BETWEEN WAARDENBURG SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS.HUMAN GENETICS. VOL. 102. ISSUE 5. P. 499-506 28 88% 30
7 READ, AP , NEWTON, VE , (1997) WAARDENBURG SYNDROME.JOURNAL OF MEDICAL GENETICS. VOL. 34. ISSUE 8. P. 656-665 32 60% 236
8 JALILIAN, N , TABATABAIEFAR, MA , FARHADI, M , BAHRAMI, T , EMAMDJOMEH, H , NOORI-DALOII, MR , (2015) MOLECULAR AND CLINICAL CHARACTERIZATION OF WAARDENBURG SYNDROME TYPE I IN AN IRANIAN COHORT WITH TWO NOVEL PAX3 MUTATIONS.GENE. VOL. 574. ISSUE 2. P. 302 -307 19 83% 0
9 WOLLNIK, B , TUKEL, T , UYGUNER, O , GHANBARI, A , KAYSERILI, H , EMIROGLU, M , YUKSEL-APAK, M , (2003) HOMOZYGOUS AND HETEROZYGOUS INHERITANCE OF PAX3 MUTATIONS CAUSES DIFFERENT TYPES OF WAARDENBURG SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 122A. ISSUE 1. P. 42-45 20 100% 24
10 BALDWIN, CT , HOTH, CF , MACINA, RA , MILUNSKY, A , (1995) MUTATIONS IN PAX3 THAT CAUSE WAARDENBURG SYNDROME TYPE-I - 10 NEW MUTATIONS AND REVIEW OF THE LITERATURE.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 58. ISSUE 2. P. 115-122 31 76% 84

Classes with closest relation at Level 1


Rank Class id link
1 11097 ENTERIC NERVOUS SYSTEM//HIRSCHSPRUNGS DISEASE//HIRSCHSPRUNG DISEASE
2 13237 ANIRIDIA//PAX6//PAX6 GENE
3 25537 PAX8//PAX5//PAX2
4 12901 SOX4//SOX GENES//SOX18
5 705 MELANOGENESIS//TYROSINASE//MELANOCYTE
6 11024 SOMITE//DERMOMYOTOME//SCLEROTOME
7 13517 NEURULATION//POSTERIOR NEUROPORE//CURLY TAIL
8 4540 NEURAL CREST//FOXD3//NEURAL CREST CELLS
9 24336 BLEPHAROPHIMOSIS//BPES//BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME
10 10225 USHER SYNDROME//USH2A//MYO7A

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