Class information for:
Level 2: GENETICS & HEREDITY//ANNALES DE GENETIQUE//HOLOPROSENCEPHALY

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
395 16816 26.4 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
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
5348 1                   CHORIONIC VILLUS SAMPLING//AMNIOCENTESIS//CONFINED PLACENTAL MOSAICISM 1636
6924 1                   SUBTELOMERIC REARRANGEMENTS//ARRAY CGH//MBD5 1428
7004 1                   MEIOTIC SEGREGATION//SPERM ANEUPLOIDY//INTERCHROMOSOMAL EFFECT 1417
9302 1                   DOUBLE ANEUPLOIDY//PRODUCTS OF CONCEPTION//NONDISJUNCTION 1169
10418 1                   SUPERNUMERARY MARKER CHROMOSOME//MARKER CHROMOSOME//SMALL SUPERNUMERARY MARKER CHROMOSOME 1065
12166 1                   HOLOPROSENCEPHALY//TGIF//CYCLOPIA 927
12661 1                   PRINS//INTERPHASE CYTOGENETICS//FAST FISH 890
14190 1                   TRISOMY 9//TETRASOMY 9P//TRISOMY 9P 786
14805 1                   FOXC1//PETERS ANOMALY//AXENFELD RIEGER SYNDROME 749
14963 1                   MONOSOMY 21//RING CHROMOSOME 21//RING CHROMOSOME 20 739
18550 1                   WOLF HIRSCHHORN SYNDROME//4P DELETION//CHROMOSOME 4 547
20269 1                   18Q SYNDROME//CHROMOSOME 18//TETRASOMY 18P 468
20601 1                   COMPLEX CHROMOSOMAL REARRANGEMENT//COMPLEX CHROMOSOME REARRANGEMENT//CHROMOTHRIPSIS 452
21327 1                   SATB1//SATB2//2Q DELETION 424
22371 1                   JUMPING TRANSLOCATION//TELOMERE PNA FISH//UNSTABLE TRANSLOCATION 384
22554 1                   QF PCR//UNCULTURED AMNIOCYTES//RAPID ANEUPLOIDY DETECTION 377
24132 1                   CRI DU CHAT SYNDROME//CRI DU CHAT//CHROMOSOME 5 322
24336 1                   BLEPHAROPHIMOSIS//BPES//BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME 315
24588 1                   SMITH MAGENIS SYNDROME//RAI1//POTOCKI LUPSKI SYNDROME 307
24649 1                   TRISOMY 18//TRISOMY 13//PATAU SYNDROME 305
24663 1                   TRISOMY 1Q//PARTIAL TRISOMY 1Q//3P SYNDROME 305
25553 1                   JACOBSEN SYNDROME//11Q SYNDROME//11Q TERMINAL DELETION DISORDER 278
25706 1                   PALLISTER KILLIAN SYNDROME//TETRASOMY 12P//ISOCHROMOSOME 12P 274
26502 1                   PARACENTRIC INVERSION//PARTIAL TRISOMY 2P//TRISOMY 2P 253
27098 1                   ACRO CARDIO FACIAL SYNDROME//CHROMOSOME 6Q DELETION//SIM1 GENE 237
27158 1                   ACROCALLOSAL SYNDROME//VICI SYNDROME//GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 236
29024 1                   TRISOMY 10Q//MONOSOMY 10Q//DISTAL 10Q TRISOMY 194
33440 1                   TRISOMY 20P//TRISOMY 6P//NEURENSIN 2 124
33589 1                   TRISOMY 16Q//TRISOMY 16P//DUPLICATION CHROMOSOME 16P 122
36128 1                   TORIELLO CAREY SYNDROME//RITSCHER SCHINZEL SYNDROME//3C SYNDROME 86

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 GENETICS & HEREDITY WoSSC 346909 59% 2% 9935
2 ANNALES DE GENETIQUE journal 330594 3% 40% 457
3 HOLOPROSENCEPHALY authKW 329973 2% 63% 290
4 AMERICAN JOURNAL OF MEDICAL GENETICS PART A journal 318510 6% 18% 1007
5 AMERICAN JOURNAL OF MEDICAL GENETICS journal 305518 7% 14% 1215
6 PRENATAL DIAGNOSIS journal 294396 6% 17% 953
7 ARRAY CGH authKW 253832 2% 35% 397
8 WOLF HIRSCHHORN SYNDROME authKW 215334 1% 93% 128
9 MOSAICISM authKW 213799 2% 32% 371
10 CHORIONIC VILLUS SAMPLING authKW 182061 1% 55% 184

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 346909 59% 2% 9935
2 Obstetrics & Gynecology 41703 16% 1% 2624
3 Medical Ethics 11719 2% 2% 278
4 Reproductive Biology 5173 4% 1% 634
5 Pediatrics 4371 7% 0% 1096
6 Cell Biology 1511 7% 0% 1167
7 Andrology 1370 1% 1% 103
8 Ophthalmology 1325 3% 0% 512
9 Developmental Biology 806 2% 0% 298
10 Biotechnology & Applied Microbiology 648 4% 0% 704

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 CYTOGENET 172571 3% 18% 533
2 MED GENET 115881 9% 4% 1575
3 CLIN COMMUNITY HLTH NURSING 60566 1% 32% 103
4 CLIN GENET 58346 3% 6% 572
5 HUMAN GENET 49629 7% 3% 1106
6 WESSEX REG GENET 22405 0% 17% 71
7 SIGNATURE GENOM S 21751 0% 39% 31
8 GENET 21412 6% 1% 986
9 UNITAT BIOL CELLULAR 20719 0% 33% 35
10 BIOMETRY SECT 20136 0% 56% 20

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 ANNALES DE GENETIQUE 330594 3% 40% 457
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 318510 6% 18% 1007
3 AMERICAN JOURNAL OF MEDICAL GENETICS 305518 7% 14% 1215
4 PRENATAL DIAGNOSIS 294396 6% 17% 953
5 GENETIC COUNSELING 137035 2% 28% 267
6 JOURNAL OF MEDICAL GENETICS 135961 4% 11% 660
7 EUROPEAN JOURNAL OF MEDICAL GENETICS 129268 2% 25% 285
8 CLINICAL GENETICS 120988 3% 12% 584
9 MOLECULAR CYTOGENETICS 116945 1% 36% 177
10 HUMAN GENETICS 84344 4% 8% 611

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 HOLOPROSENCEPHALY 329973 2% 63% 290 Search HOLOPROSENCEPHALY Search HOLOPROSENCEPHALY
2 ARRAY CGH 253832 2% 35% 397 Search ARRAY+CGH Search ARRAY+CGH
3 WOLF HIRSCHHORN SYNDROME 215334 1% 93% 128 Search WOLF+HIRSCHHORN+SYNDROME Search WOLF+HIRSCHHORN+SYNDROME
4 MOSAICISM 213799 2% 32% 371 Search MOSAICISM Search MOSAICISM
5 PRENATAL DIAGNOSIS 195737 5% 13% 846 Search PRENATAL+DIAGNOSIS Search PRENATAL+DIAGNOSIS
6 CHORIONIC VILLUS SAMPLING 182061 1% 55% 184 Search CHORIONIC+VILLUS+SAMPLING Search CHORIONIC+VILLUS+SAMPLING
7 AMNIOCENTESIS 162417 2% 34% 262 Search AMNIOCENTESIS Search AMNIOCENTESIS
8 INTERSTITIAL DELETION 142920 1% 77% 102 Search INTERSTITIAL+DELETION Search INTERSTITIAL+DELETION
9 MENTAL RETARDATION 138247 3% 15% 512 Search MENTAL+RETARDATION Search MENTAL+RETARDATION
10 PALLISTER KILLIAN SYNDROME 116191 0% 97% 66 Search PALLISTER+KILLIAN+SYNDROME Search PALLISTER+KILLIAN+SYNDROME

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 72 77% 652
2 MARTIN, RH , (2008) CYTOGENETIC DETERMINANTS OF MALE FERTILITY.HUMAN REPRODUCTION UPDATE. VOL. 14. ISSUE 4. P. 379 -390 136 82% 68
3 PELLESTOR, F , ANAHORY, T , LEFORT, G , PUECHBERTY, J , LIEHR, T , HEDON, B , SARDA, P , (2011) COMPLEX CHROMOSOMAL REARRANGEMENTS: ORIGIN AND MEIOTIC BEHAVIOR.HUMAN REPRODUCTION UPDATE. VOL. 17. ISSUE 4. P. 476 -494 127 67% 45
4 O'DRISCOLL, MC , BLACK, GCM , CLAYTON-SMITH, J , SHERR, EH , DOBYNS, WB , (2010) IDENTIFICATION OF GENOMIC LOCI CONTRIBUTING TO AGENESIS OF THE CORPUS CALLOSUM.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 152A. ISSUE 9. P. 2145-2159 127 73% 23
5 PIOMBONI, P , STENDARDI, A , GAMBERA, L , (2014) CHROMOSOMAL ABERRATIONS AND ANEUPLOIDIES OF SPERMATOZOA.GENETIC DAMAGE IN HUMAN SPERMATOZOA. VOL. 791. ISSUE . P. 27 -52 113 73% 8
6 MADAN, K , (2012) BALANCED COMPLEX CHROMOSOME REARRANGEMENTS: REPRODUCTIVE ASPECTS. A REVIEW.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 158A. ISSUE 4. P. 947 -963 84 99% 25
7 WALLERSTEIN, R , MISRA, S , DUGAR, RB , ALEM, M , MAZZONI, R , GARABEDIAN, MJ , (2015) CURRENT KNOWLEDGE OF PRENATAL DIAGNOSIS OF MOSAIC AUTOSOMAL TRISOMY IN AMNIOCYTES: KARYOTYPE/PHENOTYPE CORRELATIONS.PRENATAL DIAGNOSIS. VOL. 35. ISSUE 9. P. 841 -847 90 92% 2
8 SHAFFER, LG , BUI, TH , (2007) MOLECULAR CYTOGENETIC AND RAPID ANEUPLOIDY DETECTION METHODS IN PRENATAL DIAGNOSIS.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 145C. ISSUE 1. P. 87-98 89 88% 62
9 GUTTENBACH, M , ENGEL, W , SCHMID, M , (1997) ANALYSIS OF STRUCTURAL AND NUMERICAL CHROMOSOME ABNORMALITIES IN SPERM OF NORMAL MEN AND CARRIERS OF CONSTITUTIONAL CHROMOSOME ABERRATIONS. A REVIEW.HUMAN GENETICS. VOL. 100. ISSUE 1. P. 1-21 109 92% 110
10 NEUSSER, M , ROGENHOFER, N , DURL, S , OCHSENKUHN, R , TROTTMANN, M , JURINOVIC, V , STEINLEIN, O , THALER, CJ , MULLER, S , VON SCHONFELDT, V , (2015) INCREASED CHROMOSOME 16 DISOMY RATES IN HUMAN SPERMATOZOA AND RECURRENT SPONTANEOUS ABORTIONS.FERTILITY AND STERILITY. VOL. 104. ISSUE 5. P. 1130 -+ 83 80% 1

Classes with closest relation at Level 2


Rank Class id link
1 2900 PRADER WILLI SYNDROME//ANGELMAN SYNDROME//UBE3A
2 3087 CELL FREE FETAL DNA//NON INVASIVE PRENATAL DIAGNOSIS//FETAL DNA
3 1700 B CHROMOSOMES//FISH CYTOGENETICS//GENET EVOLUCAO
4 3109 VELOCARDIOFACIAL SYNDROME//DIGEORGE SYNDROME//22Q112 DELETION SYNDROME
5 898 TURNER SYNDROME//KLINEFELTER SYNDROME//PREMATURE OVARIAN FAILURE
6 1063 NUCHAL TRANSLUCENCY//PRENATAL DIAGNOSIS//PRENATAL SCREENING
7 2573 MEIOSIS//SYNAPTONEMAL COMPLEX//CYTOMIXIS
8 3382 LISSENCEPHALY//SECKEL SYNDROME//LIS1
9 2439 GENOMIC IMPRINTING//BECKWITH WIEDEMANN SYNDROME//SILVER RUSSELL SYNDROME
10 2848 CHARGE SYNDROME//CHOANAL ATRESIA//AICARDI SYNDROME

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