Class information for:
Level 1: HOLOPROSENCEPHALY//TGIF//CYCLOPIA

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
12166 927 30.9 64%


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
12166 1                   HOLOPROSENCEPHALY//TGIF//CYCLOPIA 927

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 HOLOPROSENCEPHALY authKW 4745480 28% 56% 258
2 TGIF authKW 640509 4% 59% 33
3 CYCLOPIA authKW 578074 4% 47% 37
4 HPE authKW 514253 2% 71% 22
5 APROSENCEPHALY authKW 338792 1% 86% 12
6 ZIC2 authKW 268972 2% 39% 21
7 PREMAXILLARY AGENESIS authKW 230569 1% 100% 7
8 PSEUDOTRISOMY 13 authKW 230569 1% 100% 7
9 7Q TERMINAL DELETION authKW 197631 1% 100% 6
10 ETHMOCEPHALY authKW 197631 1% 100% 6

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 10096 43% 0% 402
2 Pediatrics 1157 13% 0% 120
3 Obstetrics & Gynecology 767 9% 0% 87
4 Developmental Biology 747 6% 0% 56
5 Medical Ethics 706 2% 0% 16
6 Clinical Neurology 497 11% 0% 106
7 Anatomy & Morphology 462 3% 0% 30
8 Neuroimaging 331 2% 0% 23
9 Radiology, Nuclear Medicine & Medical Imaging 277 8% 0% 73
10 Dentistry, Oral Surgery & Medicine 188 4% 0% 38

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 MED GENET BRANCH 187583 7% 9% 61
2 BRANCH GENET DEV PATHOL 65877 0% 100% 2
3 GENET PATHOL LIEES DEV BRANCH 65877 0% 100% 2
4 HOLOPROSENCEPHALY GRP 65877 0% 100% 2
5 SERV GENET CLIN 44836 2% 7% 19
6 GENET DEV UMR6061 43917 0% 67% 2
7 BIOL ANTHROPOMETRY 32938 0% 100% 1
8 CANCERCARE MANITOBA CCMB 32938 0% 100% 1
9 CANDIDA VARGAS 32938 0% 100% 1
10 CARTER BRAIN HOLOPROSENCEPHALY 32938 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 PART C-SEMINARS IN MEDICAL GENETICS 36032 2% 5% 23
2 AMERICAN JOURNAL OF MEDICAL GENETICS 25280 9% 1% 82
3 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 12041 5% 1% 46
4 GENETIC COUNSELING 8930 2% 2% 16
5 JOURNAL OF MEDICAL GENETICS 8179 4% 1% 38
6 CLINICAL DYSMORPHOLOGY 6623 2% 1% 15
7 JOURNAL OF CRANIOFACIAL GENETICS AND DEVELOPMENTAL BIOLOGY 4363 1% 1% 9
8 PRENATAL DIAGNOSIS 3649 3% 0% 25
9 ANNALES DE GENETIQUE 3462 1% 1% 11
10 CLINICAL GENETICS 3101 2% 0% 22

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 4745480 28% 56% 258 Search HOLOPROSENCEPHALY Search HOLOPROSENCEPHALY
2 TGIF 640509 4% 59% 33 Search TGIF Search TGIF
3 CYCLOPIA 578074 4% 47% 37 Search CYCLOPIA Search CYCLOPIA
4 HPE 514253 2% 71% 22 Search HPE Search HPE
5 APROSENCEPHALY 338792 1% 86% 12 Search APROSENCEPHALY Search APROSENCEPHALY
6 ZIC2 268972 2% 39% 21 Search ZIC2 Search ZIC2
7 PREMAXILLARY AGENESIS 230569 1% 100% 7 Search PREMAXILLARY+AGENESIS Search PREMAXILLARY+AGENESIS
8 PSEUDOTRISOMY 13 230569 1% 100% 7 Search PSEUDOTRISOMY+13 Search PSEUDOTRISOMY+13
9 7Q TERMINAL DELETION 197631 1% 100% 6 Search 7Q+TERMINAL+DELETION Search 7Q+TERMINAL+DELETION
10 ETHMOCEPHALY 197631 1% 100% 6 Search ETHMOCEPHALY Search ETHMOCEPHALY

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 SAVASTANO, CP , EL-JAICK, KB , COSTA-LIMA, MA , ABATH, CMB , BIANCA, S , CAVALCANTI, DP , FELIX, TM , SCARANO, G , LLERENA, JC , VARGAS, FR , ET AL (2014) MOLECULAR ANALYSIS OF HOLOPROSENCEPHALY IN SOUTH AMERICA.GENETICS AND MOLECULAR BIOLOGY. VOL. 37. ISSUE 1. P. 250 -262 45 87% 0
2 MERCIER, S , DUBOURG, C , GARCELON, N , CAMPILLO-GIMENEZ, B , GICQUEL, I , BELLEGUIC, M , RATIE, L , PASQUIER, L , LOGET, P , BENDAVID, C , ET AL (2011) NEW FINDINGS FOR PHENOTYPE-GENOTYPE CORRELATIONS IN A LARGE EUROPEAN SERIES OF HOLOPROSENCEPHALY CASES.JOURNAL OF MEDICAL GENETICS. VOL. 48. ISSUE 11. P. 752 -760 40 93% 27
3 PAULUSSEN, ADC , SCHRANDER-STUMPEL, CT , TSERPELIS, DCJ , SPEE, MKM , STEGMANN, APA , MANCINI, GM , BROOKS, AS , COLLEE, M , MAAT-KIEVIT, A , SIMON, MEH , ET AL (2010) THE UNFOLDING CLINICAL SPECTRUM OF HOLOPROSENCEPHALY DUE TO MUTATIONS IN SHH, ZIC2, SIX3 AND TGIF GENES.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 18. ISSUE 9. P. 999-1005 40 93% 12
4 DUBOURG, C , BENDAVID, C , PASQUIER, L , HENRY, C , ODENT, S , DAVID, V , (2007) HOLOPROSENCEPHALY.ORPHANET JOURNAL OF RARE DISEASES. VOL. 2. ISSUE . P. - 50 57% 128
5 ROESSLER, E , VELEZ, JI , ZHOU, N , MUENKE, M , (2012) UTILIZING PROSPECTIVE SEQUENCE ANALYSIS OF SHH, ZIC2, SIX3 AND TGIF IN HOLOPROSENCEPHALY PROBANDS TO DESCRIBE THE PARAMETERS LIMITING THE OBSERVED FREQUENCY OF MUTANT GENE X GENE INTERACTIONS.MOLECULAR GENETICS AND METABOLISM. VOL. 105. ISSUE 4. P. 658-664 35 85% 12
6 RAAM, MS , SOLOMON, BD , MUENKE, M , (2011) HOLOPROSENCEPHALY: A GUIDE TO DIAGNOSIS AND CLINICAL MANAGEMENT.INDIAN PEDIATRICS. VOL. 48. ISSUE 6. P. 457-466 34 92% 6
7 SOLOMON, BD , MERCIER, S , VELEZ, JI , PINEDA-ALVAREZ, DE , WYLLIE, A , ZHOU, N , DUBOURG, C , DAVID, V , ODENT, S , ROESSLER, E , ET AL (2010) ANALYSIS OF GENOTYPE-PHENOTYPE CORRELATIONS IN HUMAN HOLOPROSENCEPHALY.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 154C. ISSUE 1. P. 133-141 32 89% 41
8 MERCIER, S , DUBOURG, C , BELLEGUIC, M , PASQUIER, L , LOGET, P , LUCAS, J , BENDAVID, C , ODENT, S , (2010) GENETIC COUNSELING AND "MOLECULAR" PRENATAL DIAGNOSIS OF HOLOPROSENCEPHALY (HPE).AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 154C. ISSUE 1. P. 191-196 34 87% 17
9 LUKUSA, T , VERMEESCH, JR , FRYNS, JP , (2005) DE NOVO DELETION 7Q36 RESULTING FROM A DISTAL 7Q/8Q TRANSLOCATION: PHENOTYPIC EXPRESSION AND COMPARISON TO THE LITERATURE.GENETIC COUNSELING. VOL. 16. ISSUE 1. P. 1-15 44 79% 6
10 KAUVAR, EF , MUENKE, M , (2010) HOLOPROSENCEPHALY: RECOMMENDATIONS FOR DIAGNOSIS AND MANAGEMENT.CURRENT OPINION IN PEDIATRICS. VOL. 22. ISSUE 6. P. 687 -695 34 85% 13

Classes with closest relation at Level 1


Rank Class id link
1 25023 SYNGNATHIA//OTOCEPHALY//AGNATHIA
2 20269 18Q SYNDROME//CHROMOSOME 18//TETRASOMY 18P
3 26598 SELLA TURCICA//SHUNT TREATMENT//EXPT DENT ORAL STRUCT BIOL
4 14963 MONOSOMY 21//RING CHROMOSOME 21//RING CHROMOSOME 20
5 17969 SEPTO OPTIC DYSPLASIA//SEPTUM PELLUCIDUM//OPTIC NERVE HYPOPLASIA
6 18091 FETAL FACE//HDLIVE//THREE DIMENSIONAL ULTRASOUND
7 35992 HYDRANENCEPHALY//FOWLER SYNDROME//FLVCR2
8 36130 GAS7//GAS1//GROWTH ARREST SPECIFIC 1
9 27158 ACROCALLOSAL SYNDROME//VICI SYNDROME//GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
10 15793 FRONTONASAL DYSPLASIA//MACROSTOMIA//PROBOSCIS LATERALIS

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