Class information for:
Level 2: VELOCARDIOFACIAL SYNDROME//DIGEORGE SYNDROME//22Q112 DELETION SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
3109 2322 34.4 72%


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
3109 2             VELOCARDIOFACIAL SYNDROME//DIGEORGE SYNDROME//22Q112 DELETION SYNDROME 2322
4538 1                   VELOCARDIOFACIAL SYNDROME//DIGEORGE SYNDROME//22Q112 DELETION SYNDROME 1769
23938 1                   GYRATE ATROPHY//ORNITHINE AMINOTRANSFERASE//GYRATE ATROPHY OF THE CHOROID AND RETINA 329
27659 1                   HYPERPROLINEMIA//HYPERPROLINEMIA TYPE II//SUPERIOR MESENTERIC FLOW 224

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 VELOCARDIOFACIAL SYNDROME authKW 3240231 13% 79% 312
2 DIGEORGE SYNDROME authKW 2258495 11% 64% 267
3 22Q112 DELETION SYNDROME authKW 1190701 5% 80% 113
4 22Q11 DELETION SYNDROME authKW 875331 4% 81% 82
5 22Q11 DELETION authKW 782922 3% 78% 76
6 22Q11 authKW 603800 3% 71% 65
7 22Q112 DELETION authKW 601667 2% 80% 57
8 VCFS authKW 488097 2% 81% 46
9 22Q112 authKW 349228 1% 80% 33
10 HYPERPROLINEMIA authKW 294519 1% 80% 28

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 11530 30% 0% 692
2 Pediatrics 3910 15% 0% 345
3 Psychiatry 1871 11% 0% 259
4 Medical Ethics 976 1% 0% 30
5 Education, Special 703 2% 0% 43
6 Neurosciences 641 12% 0% 280
7 Ophthalmology 601 5% 0% 115
8 Medicine, Research & Experimental 226 5% 0% 113
9 Clinical Neurology 215 6% 0% 134
10 Rehabilitation 190 2% 0% 53

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 CLIN GENET PROGRAM 235650 2% 41% 44
2 BEHAV NEUROGENET 79402 1% 29% 21
3 ADOLESCENCE CLIN PSYCHOL UNIT 78880 1% 50% 12
4 HUMAN GENET MOL BIOL 74268 2% 13% 42
5 DIAG TREATMENT STUDY VELOCARDIO IAL SYNDR 54784 0% 83% 5
6 STANFORD COGNIT SYST NEUROSCI 48400 0% 41% 9
7 DALGLISH FAMILY HEARTS MINDS CLIN DELET SYNDROM 42074 0% 80% 4
8 HUMAN GENET LEUVEN 39446 0% 100% 3
9 SERV MED MOL 39446 0% 100% 3
10 OFF MED PEDAGOG UNIT 36520 0% 56% 5

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 JOURNAL OF NEURODEVELOPMENTAL DISORDERS 20037 1% 8% 20
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 14490 3% 1% 80
3 GENETIC COUNSELING 12518 1% 3% 30
4 AMERICAN JOURNAL OF MEDICAL GENETICS 11524 4% 1% 88
5 JAPANESE JOURNAL OF PHYSIOLOGY 7713 2% 2% 35
6 DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS 6990 0% 6% 9
7 EUROPEAN JOURNAL OF MEDICAL GENETICS 6078 1% 2% 23
8 GENETICS IN MEDICINE 5901 1% 2% 27
9 ANNALES DE GENETIQUE 4558 1% 2% 20
10 JOURNAL OF MEDICAL GENETICS 3942 2% 1% 42

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 VELOCARDIOFACIAL SYNDROME 3240231 13% 79% 312 Search VELOCARDIOFACIAL+SYNDROME Search VELOCARDIOFACIAL+SYNDROME
2 DIGEORGE SYNDROME 2258495 11% 64% 267 Search DIGEORGE+SYNDROME Search DIGEORGE+SYNDROME
3 22Q112 DELETION SYNDROME 1190701 5% 80% 113 Search 22Q112+DELETION+SYNDROME Search 22Q112+DELETION+SYNDROME
4 22Q11 DELETION SYNDROME 875331 4% 81% 82 Search 22Q11+DELETION+SYNDROME Search 22Q11+DELETION+SYNDROME
5 22Q11 DELETION 782922 3% 78% 76 Search 22Q11+DELETION Search 22Q11+DELETION
6 22Q11 603800 3% 71% 65 Search 22Q11 Search 22Q11
7 22Q112 DELETION 601667 2% 80% 57 Search 22Q112+DELETION Search 22Q112+DELETION
8 VCFS 488097 2% 81% 46 Search VCFS Search VCFS
9 22Q112 349228 1% 80% 33 Search 22Q112 Search 22Q112
10 HYPERPROLINEMIA 294519 1% 80% 28 Search HYPERPROLINEMIA Search HYPERPROLINEMIA

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 MCDONALD-MCGINN, DM , SULLIVAN, KE , MARINO, B , PHILIP, N , SWILLEN, A , VORSTMAN, JAS , ZACKAI, EH , EMANUEL, BS , VERMEESCH, JR , MORROW, BE , ET AL (2015) 22Q11.2 DELETION SYNDROME.NATURE REVIEWS DISEASE PRIMERS. VOL. 1. ISSUE . P. - 150 71% 3
2 BISWAS, AB , FURNISS, F , (2016) COGNITIVE PHENOTYPE AND PSYCHIATRIC DISORDER IN 22Q11.2 DELETION SYNDROME: A REVIEW.RESEARCH IN DEVELOPMENTAL DISABILITIES. VOL. 53-54. ISSUE . P. 242 -257 116 81% 1
3 MCDONALD-MCGINN, DM , SULLIVAN, KE , (2011) CHROMOSOME 22Q11.2 DELETION SYNDROME (DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME).MEDICINE. VOL. 90. ISSUE 1. P. 1-18 115 76% 84
4 BASSETT, AS , COSTAIN, G , MARSHALL, CR , (2017) NEUROPSYCHIATRIC ASPECTS OF 22Q11.2 DELETION SYNDROME: CONSIDERATIONS IN THE PRENATAL SETTING.PRENATAL DIAGNOSIS. VOL. 37. ISSUE 1. P. 61 -69 69 79% 1
5 KOBRYNSKI, LJ , SULLIVAN, KE , (2007) VELOCARDIOFACIAL SYNDROME, DIGEORGE SYNDROME: THE CHROMOSOME 22Q11.2 DELETION SYNDROMES.LANCET. VOL. 370. ISSUE 9596. P. 1443-1452 97 83% 215
6 SQUARCIONE, C , TORTI, MC , DI FABIO, F , BIONDI, M , (2013) 22Q11 DELETION SYNDROME: A REVIEW OF THE NEUROPSYCHIATRIC FEATURES AND THEIR NEUROBIOLOGICAL BASIS.NEUROPSYCHIATRIC DISEASE AND TREATMENT. VOL. 9. ISSUE . P. 1873-1883 97 77% 10
7 DUGOFF, L , MENNUTI, MT , MCDONALD-MCGINN, DM , (2017) THE BENEFITS AND LIMITATIONS OF CELL-FREE DNA SCREENING FOR 22Q11.2 DELETION SYNDROME.PRENATAL DIAGNOSIS. VOL. 37. ISSUE 1. P. 53 -60 45 75% 2
8 MONTEIRO, FP , VIEIRA, TP , SGARDIOLI, IC , MOLCK, MC , DAMIANO, AP , SOUZA, J , MONLLEO, IL , FONTES, MIB , FETT-CONTE, AC , FELIX, TM , ET AL (2013) DEFINING NEW GUIDELINES FOR SCREENING THE 22Q11.2 DELETION BASED ON A CLINICAL AND DYSMORPHOLOGIC EVALUATION OF 194 INDIVIDUALS AND REVIEW OF THE LITERATURE.EUROPEAN JOURNAL OF PEDIATRICS. VOL. 172. ISSUE 7. P. 927-945 69 96% 15
9 PHILIP, N , BASSETT, A , (2011) COGNITIVE, BEHAVIOURAL AND PSYCHIATRIC PHENOTYPE IN 22Q11.2 DELETION SYNDROME.BEHAVIOR GENETICS. VOL. 41. ISSUE 3. P. 403-412 74 83% 44
10 LELEU, A , SAUCOURT, G , RIGARD, C , CHESNOY, G , BAUDOUIN, JY , ROSSI, M , EDERY, P , FRANCK, N , DEMILY, C , (2016) FACIAL EMOTION PERCEPTION BY INTENSITY IN CHILDREN AND ADOLESCENTS WITH 22Q11.2 DELETION SYNDROME.EUROPEAN CHILD & ADOLESCENT PSYCHIATRY. VOL. 25. ISSUE 3. P. 297 -310 71 82% 1

Classes with closest relation at Level 2


Rank Class id link
1 2233 HEART DEVELOPMENT//NKX25//CARDIAC DEVELOPMENT
2 3091 WILLIAMS SYNDROME//WILLIAMS BEUREN SYNDROME//SUPRAVALVULAR AORTIC STENOSIS
3 3243 PSEUDOHYPOPARATHYROIDISM//FAHRS DISEASE//MENINGIOANGIOMATOSIS
4 395 GENETICS & HEREDITY//ANNALES DE GENETIQUE//HOLOPROSENCEPHALY
5 1454 CLEFT PALATE-CRANIOFACIAL JOURNAL//CLEFT PALATE//CLEFT LIP
6 2848 CHARGE SYNDROME//CHOANAL ATRESIA//AICARDI SYNDROME
7 142 CONGENITAL HEART DISEASE//PEDIAT CARDIOL//CARDIAC & CARDIOVASCULAR SYSTEM
8 1704 COMMON VARIABLE IMMUNODEFICIENCY//PRIMARY IMMUNODEFICIENCY//INTRAVENOUS IMMUNOGLOBULIN
9 2900 PRADER WILLI SYNDROME//ANGELMAN SYNDROME//UBE3A
10 446 AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS//5 HTTLPR//PSYCHIATRIC GENETICS

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