Class information for:
Level 1: VELOCARDIOFACIAL SYNDROME//DIGEORGE SYNDROME//22Q112 DELETION SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
4538 1769 36.3 79%


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

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 4253341 18% 79% 312
2 DIGEORGE SYNDROME authKW 2964682 15% 64% 267
3 22Q112 DELETION SYNDROME authKW 1535449 6% 79% 112
4 22Q11 DELETION SYNDROME authKW 1149016 5% 81% 82
5 22Q11 DELETION authKW 1000847 4% 77% 75
6 22Q112 DELETION authKW 789788 3% 80% 57
7 22Q11 authKW 744563 4% 68% 63
8 VCFS authKW 640708 3% 81% 46
9 22Q112 authKW 458420 2% 80% 33
10 VELO CARDIO FACIAL SYNDROME VCFS authKW 368200 1% 89% 24

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 13120 36% 0% 638
2 Pediatrics 4822 19% 0% 329
3 Psychiatry 2409 14% 0% 250
4 Medical Ethics 1299 2% 0% 30
5 Education, Special 948 2% 0% 43
6 Clinical Neurology 280 7% 0% 124
7 Rehabilitation 277 3% 0% 53
8 Neurosciences 256 10% 0% 169
9 Cardiac & Cardiovascular System 229 6% 0% 102
10 Psychology, Developmental 222 2% 0% 40

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 309343 2% 41% 44
2 BEHAV NEUROGENET 104237 1% 29% 21
3 ADOLESCENCE CLIN PSYCHOL UNIT 103546 1% 50% 12
4 HUMAN GENET MOL BIOL 97511 2% 13% 42
5 DIAG TREATMENT STUDY VELOCARDIO IAL SYNDR 71913 0% 83% 5
6 STANFORD COGNIT SYST NEUROSCI 63536 1% 41% 9
7 DALGLISH FAMILY HEARTS MINDS CLIN DELET SYNDROM 55229 0% 80% 4
8 HUMAN GENET LEUVEN 51779 0% 100% 3
9 SERV MED MOL 51779 0% 100% 3
10 OFF MED PEDAGOG UNIT 47939 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 26314 1% 8% 20
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 19070 5% 1% 80
3 GENETIC COUNSELING 16450 2% 3% 30
4 AMERICAN JOURNAL OF MEDICAL GENETICS 15181 5% 1% 88
5 DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS 9181 1% 6% 9
6 EUROPEAN JOURNAL OF MEDICAL GENETICS 7992 1% 2% 23
7 GENETICS IN MEDICINE 7762 2% 2% 27
8 ANNALES DE GENETIQUE 5996 1% 2% 20
9 JOURNAL OF MEDICAL GENETICS 5201 2% 1% 42
10 JOURNAL OF INTELLECTUAL DISABILITY RESEARCH 3530 1% 1% 20

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 4253341 18% 79% 312 Search VELOCARDIOFACIAL+SYNDROME Search VELOCARDIOFACIAL+SYNDROME
2 DIGEORGE SYNDROME 2964682 15% 64% 267 Search DIGEORGE+SYNDROME Search DIGEORGE+SYNDROME
3 22Q112 DELETION SYNDROME 1535449 6% 79% 112 Search 22Q112+DELETION+SYNDROME Search 22Q112+DELETION+SYNDROME
4 22Q11 DELETION SYNDROME 1149016 5% 81% 82 Search 22Q11+DELETION+SYNDROME Search 22Q11+DELETION+SYNDROME
5 22Q11 DELETION 1000847 4% 77% 75 Search 22Q11+DELETION Search 22Q11+DELETION
6 22Q112 DELETION 789788 3% 80% 57 Search 22Q112+DELETION Search 22Q112+DELETION
7 22Q11 744563 4% 68% 63 Search 22Q11 Search 22Q11
8 VCFS 640708 3% 81% 46 Search VCFS Search VCFS
9 22Q112 458420 2% 80% 33 Search 22Q112 Search 22Q112
10 VELO CARDIO FACIAL SYNDROME VCFS 368200 1% 89% 24 Search VELO+CARDIO+FACIAL+SYNDROME+VCFS Search VELO+CARDIO+FACIAL+SYNDROME+VCFS

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 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
7 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 94 75% 10
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 1


Rank Class id link
1 23941 HDR SYNDROME//HYPOPARATHYROIDISM//KENNY CAFFEY SYNDROME
2 27659 HYPERPROLINEMIA//HYPERPROLINEMIA TYPE II//SUPERIOR MESENTERIC FLOW
3 10637 COMT//CATECHOL O METHYLTRANSFERASE//COMT VAL158MET
4 27258 TRUNCUS ARTERIOSUS//TRUNCUS ARTERIOSUS COMMUNIS//COMMON ARTERIAL TRUNK
5 6924 SUBTELOMERIC REARRANGEMENTS//ARRAY CGH//MBD5
6 28467 ABSENT PULMONARY VALVE//ABSENT PULMONARY VALVE SYNDROME//ABSENT AORTIC VALVE
7 7832 GATA4//NKX25//HOLT ORAM SYNDROME
8 1801 HEART DEVELOPMENT//EPICARDIUM//SECOND HEART FIELD
9 19654 TN10 PRECISE EXCISION//PARTIAL TRISOMY 11Q//EMANUEL SYNDROME
10 24588 SMITH MAGENIS SYNDROME//RAI1//POTOCKI LUPSKI SYNDROME

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