Class information for:
Level 1: SUBTELOMERIC REARRANGEMENTS//ARRAY CGH//MBD5

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
6924 1428 33.4 80%


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
395 2             GENETICS & HEREDITY//ANNALES DE GENETIQUE//HOLOPROSENCEPHALY 16816
6924 1                   SUBTELOMERIC REARRANGEMENTS//ARRAY CGH//MBD5 1428

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 SUBTELOMERIC REARRANGEMENTS authKW 513680 2% 78% 31
2 ARRAY CGH authKW 377946 10% 13% 141
3 MBD5 authKW 277961 1% 100% 13
4 CHROMOSOMAL MICROARRAY authKW 250164 2% 42% 28
5 1P36 DELETION SYNDROME authKW 232816 1% 78% 14
6 MONOSOMY 1P36 authKW 232816 1% 78% 14
7 GLOBAL DEVELOPMENTAL DELAY authKW 229949 2% 49% 22
8 IDIOPATHIC MENTAL RETARDATION authKW 219922 1% 86% 12
9 MENTAL RETARDATION authKW 216067 13% 5% 186
10 MOLECULAR KARYOTYPING authKW 158357 1% 37% 20

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 30863 60% 0% 863
2 Pediatrics 2139 14% 0% 201
3 Education, Special 1373 3% 0% 46
4 Obstetrics & Gynecology 1050 9% 0% 127
5 Rehabilitation 365 4% 0% 53
6 Medical Ethics 290 1% 0% 13
7 Clinical Neurology 256 7% 0% 105
8 Medicine, Research & Experimental 63 4% 0% 53
9 Medical Laboratory Technology 59 1% 0% 19
10 Acoustics 39 1% 0% 19

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 SIGNATURE GENOM S 129327 2% 28% 22
2 CGH MICROARRAY 48107 0% 75% 3
3 FULLERTON GENET 45271 0% 35% 6
4 SECT FUNCT STRUCT GEN 42763 0% 100% 2
5 PAW PRINT GENET 41112 0% 38% 5
6 MED GENET 39444 19% 1% 266
7 OXFORD GENET KNOWLEDGE PK 38485 0% 60% 3
8 CYTOGENET 37168 5% 2% 72
9 MOL HUMAN GENET 29017 6% 2% 84
10 PEDIAT NEUROL PSYCHIAT 28508 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 EUROPEAN JOURNAL OF MEDICAL GENETICS 81864 5% 6% 66
2 MOLECULAR CYTOGENETICS 60285 3% 8% 37
3 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 56984 9% 2% 124
4 GENETICS IN MEDICINE 43039 4% 4% 57
5 JOURNAL OF MEDICAL GENETICS 14142 4% 1% 62
6 PRENATAL DIAGNOSIS 13711 4% 1% 60
7 CLINICAL GENETICS 10868 4% 1% 51
8 EUROPEAN JOURNAL OF HUMAN GENETICS 10776 3% 1% 43
9 MEDIZINISCHE GENETIK 7416 1% 4% 9
10 CLINICAL DYSMORPHOLOGY 6183 1% 2% 18

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 SUBTELOMERIC REARRANGEMENTS 513680 2% 78% 31 Search SUBTELOMERIC+REARRANGEMENTS Search SUBTELOMERIC+REARRANGEMENTS
2 ARRAY CGH 377946 10% 13% 141 Search ARRAY+CGH Search ARRAY+CGH
3 MBD5 277961 1% 100% 13 Search MBD5 Search MBD5
4 CHROMOSOMAL MICROARRAY 250164 2% 42% 28 Search CHROMOSOMAL+MICROARRAY Search CHROMOSOMAL+MICROARRAY
5 1P36 DELETION SYNDROME 232816 1% 78% 14 Search 1P36+DELETION+SYNDROME Search 1P36+DELETION+SYNDROME
6 MONOSOMY 1P36 232816 1% 78% 14 Search MONOSOMY+1P36 Search MONOSOMY+1P36
7 GLOBAL DEVELOPMENTAL DELAY 229949 2% 49% 22 Search GLOBAL+DEVELOPMENTAL+DELAY Search GLOBAL+DEVELOPMENTAL+DELAY
8 IDIOPATHIC MENTAL RETARDATION 219922 1% 86% 12 Search IDIOPATHIC+MENTAL+RETARDATION Search IDIOPATHIC+MENTAL+RETARDATION
9 MENTAL RETARDATION 216067 13% 5% 186 Search MENTAL+RETARDATION Search MENTAL+RETARDATION
10 MOLECULAR KARYOTYPING 158357 1% 37% 20 Search MOLECULAR+KARYOTYPING Search MOLECULAR+KARYOTYPING

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 MILLER, DT , ADAM, MP , ARADHYA, S , BIESECKER, LG , BROTHMAN, AR , CARTER, NP , CHURCH, DM , CROLLA, JA , EICHLER, EE , EPSTEIN, CJ , ET AL (2010) CONSENSUS STATEMENT: CHROMOSOMAL MICROARRAY IS A FIRST-TIER CLINICAL DIAGNOSTIC TEST FOR INDIVIDUALS WITH DEVELOPMENTAL DISABILITIES OR CONGENITAL ANOMALIES.AMERICAN JOURNAL OF HUMAN GENETICS. VOL. 86. ISSUE 5. P. 749 -764 61 66% 652
2 HOCHSTENBACH, R , VAN BINSBERGEN, E , ENGELEN, J , NIEUWINT, A , POLSTRA, A , PODDIGHE, P , RUIVENKAMP, C , SIKKEMA-RADDATZ, B , SMEETS, D , POOT, M , (2009) ARRAY ANALYSIS AND KARYOTYPING: WORKFLOW CONSEQUENCES BASED ON A RETROSPECTIVE STUDY OF 36,325 PATIENTS WITH IDIOPATHIC DEVELOPMENTAL DELAY IN THE NETHERLANDS.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 52. ISSUE 4. P. 161 -169 54 78% 70
3 MICHELSON, DJ , ASHWAL, S , GROPMAN, AL , MOESCHLER, JB , SHERR, EH , SHEVELL, MI , (2011) EVIDENCE REPORT: GENETIC AND METABOLIC TESTING ON CHILDREN WITH GLOBAL DEVELOPMENTAL DELAY REPORT OF THE QUALITY STANDARDS SUBCOMMITTEE OF THE AMERICAN ACADEMY OF NEUROLOGY AND THE PRACTICE COMMITTEE OF THE CHILD NEUROLOGY SOCIETY.NEUROLOGY. VOL. 77. ISSUE 17. P. 1629-1635 36 100% 64
4 FIORENTINO, F , NAPOLETANO, S , CAIAZZO, F , SESSA, M , BONO, S , SPIZZICHINO, L , GORDON, A , NUCCITELLI, A , RIZZO, G , BALDI, M , (2013) CHROMOSOMAL MICROARRAY ANALYSIS AS A FIRST-LINE TEST IN PREGNANCIES WITH A PRIORI LOW RISK FOR THE DETECTION OF SUBMICROSCOPIC CHROMOSOMAL ABNORMALITIES.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 21. ISSUE 7. P. 725-730 37 95% 24
5 GOVAERTS, L , SREBNIAK, M , DIDERICH, K , JOOSTEN, M , RIEDIJK, S , KNAPEN, M , GO, A , PAPATSONIS, D , DE GRAAF, K , TOOLENAAR, T , ET AL (2017) PRENATAL DIAGNOSIS OF SUSCEPTIBILITY LOCI FOR NEURODEVELOPMENTAL DISORDERS - GENETIC COUNSELING AND PREGNANCY OUTCOME IN 57 CASES.PRENATAL DIAGNOSIS. VOL. 37. ISSUE 1. P. 73 -80 33 63% 1
6 WEI, Y , XU, F , LI, PN , (2013) TECHNOLOGY-DRIVEN AND EVIDENCE-BASED GENOMIC ANALYSIS FOR INTEGRATED PEDIATRIC AND PRENATAL GENETICS EVALUATION.JOURNAL OF GENETICS AND GENOMICS. VOL. 40. ISSUE 1. P. 1 -14 53 67% 4
7 CAPPUCCIO, G , VITIELLO, F , CASERTANO, A , FONTANA, P , GENESIO, R , BRUZZESE, D , GINOCCHIO, VM , MORMILE, A , NITSCH, L , ANDRIA, G , ET AL (2016) NEW INSIGHTS IN THE INTERPRETATION OF ARRAY-CGH: AUTISM SPECTRUM DISORDER AND POSITIVE FAMILY HISTORY FOR INTELLECTUAL DISABILITY PREDICT THE DETECTION OF PATHOGENIC VARIANTS.ITALIAN JOURNAL OF PEDIATRICS. VOL. 42. ISSUE . P. - 40 82% 0
8 BREMAN, A , PURSLEY, AN , HIXSON, P , BI, WM , WARD, P , BACINO, CA , SHAW, C , LUPSKI, JR , BEAUDET, A , PATEL, A , ET AL (2012) PRENATAL CHROMOSOMAL MICROARRAY ANALYSIS IN A DIAGNOSTIC LABORATORY; EXPERIENCE WITH > 1000 CASES AND REVIEW OF THE LITERATURE.PRENATAL DIAGNOSIS. VOL. 32. ISSUE 4. P. 351 -361 45 68% 32
9 LEE, JY , CHO, YH , HALLFORD, G , (2011) DELINEATION OF SUBTELOMERIC DELETION OF THE LONG ARM OF CHROMOSOME 6.ANNALS OF HUMAN GENETICS. VOL. 75. ISSUE . P. 755 -764 47 72% 5
10 KNIGHT, SJL , REGAN, R , (2006) IDIOPATHIC LEARNING DISABILITY AND GENOME IMBALANCE.CYTOGENETIC AND GENOME RESEARCH. VOL. 115. ISSUE 3-4. P. 215-224 54 69% 11

Classes with closest relation at Level 1


Rank Class id link
1 33589 TRISOMY 16Q//TRISOMY 16P//DUPLICATION CHROMOSOME 16P
2 20601 COMPLEX CHROMOSOMAL REARRANGEMENT//COMPLEX CHROMOSOME REARRANGEMENT//CHROMOTHRIPSIS
3 22554 QF PCR//UNCULTURED AMNIOCYTES//RAPID ANEUPLOIDY DETECTION
4 5569 COPY NUMBER VARIATION//COPY NUMBER VARIANTS//STRUCTURAL VARIATION
5 24663 TRISOMY 1Q//PARTIAL TRISOMY 1Q//3P SYNDROME
6 24588 SMITH MAGENIS SYNDROME//RAI1//POTOCKI LUPSKI SYNDROME
7 33440 TRISOMY 20P//TRISOMY 6P//NEURENSIN 2
8 27098 ACRO CARDIO FACIAL SYNDROME//CHROMOSOME 6Q DELETION//SIM1 GENE
9 29024 TRISOMY 10Q//MONOSOMY 10Q//DISTAL 10Q TRISOMY
10 24132 CRI DU CHAT SYNDROME//CRI DU CHAT//CHROMOSOME 5

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