Class information for:
Level 1: ACROCALLOSAL SYNDROME//VICI SYNDROME//GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
27158 236 21.6 66%


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
27158 1                   ACROCALLOSAL SYNDROME//VICI SYNDROME//GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 236

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 ACROCALLOSAL SYNDROME authKW 1495704 7% 68% 17
2 VICI SYNDROME authKW 1423258 5% 100% 11
3 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME authKW 828074 3% 80% 8
4 PARTIAL TRISOMY 7P authKW 792494 3% 88% 7
5 EPG5 authKW 665418 3% 86% 6
6 7P DUPLICATION authKW 517548 2% 100% 4
7 DUPLICATION 7P authKW 517548 2% 100% 4
8 GREIG SYNDROME authKW 462094 2% 71% 5
9 7P DUPLICATION SYNDROME authKW 388161 1% 100% 3
10 7P TRISOMY SYNDROME authKW 388161 1% 100% 3

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 7487 73% 0% 172
2 Medical Ethics 395 3% 0% 6
3 Pediatrics 206 11% 0% 26
4 Biotechnology & Applied Microbiology 66 8% 0% 20
5 Clinical Neurology 15 5% 0% 12
6 Developmental Biology 10 2% 0% 4
7 Medical Laboratory Technology 9 1% 0% 3
8 Medicine, Research & Experimental 8 3% 0% 8
9 Pathology 3 2% 0% 4
10 Obstetrics & Gynecology 2 2% 0% 4

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 AFDELING KLIN GENET 129387 0% 100% 1
2 AKAD TEE 129387 0% 100% 1
3 BCDP DYNCORP PROGRAM OURCES INC 129387 0% 100% 1
4 CHILD NEUROL METAB MED 129387 0% 100% 1
5 CHILDREN HOSP DENVER 129387 0% 100% 1
6 CLAD NDF 129387 0% 100% 1
7 CYTOMETRY B CELL DEV 129387 0% 100% 1
8 HA CH MAN 129387 0% 100% 1
9 HAEMATOL ONCOLSTEM CELL PROGRAM 129387 0% 100% 1
10 HUMAN MOL GENET PEDIAT OBSTET GYNECOL EPID 129387 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 30009 19% 1% 45
2 ANNALES DE GENETIQUE 13663 5% 1% 11
3 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 11868 10% 0% 23
4 JOURNAL OF MEDICAL GENETICS 5717 7% 0% 16
5 CLINICAL GENETICS 4974 6% 0% 14
6 GENETIC COUNSELING 4938 3% 1% 6
7 EUROPEAN JOURNAL OF MEDICAL GENETICS 2837 2% 0% 5
8 CONGENITAL ANOMALIES 2171 1% 1% 2
9 CLINICAL DYSMORPHOLOGY 1850 2% 0% 4
10 MAMMALIAN GENOME 1797 3% 0% 7

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 ACROCALLOSAL SYNDROME 1495704 7% 68% 17 Search ACROCALLOSAL+SYNDROME Search ACROCALLOSAL+SYNDROME
2 VICI SYNDROME 1423258 5% 100% 11 Search VICI+SYNDROME Search VICI+SYNDROME
3 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 828074 3% 80% 8 Search GREIG+CEPHALOPOLYSYNDACTYLY+SYNDROME Search GREIG+CEPHALOPOLYSYNDACTYLY+SYNDROME
4 PARTIAL TRISOMY 7P 792494 3% 88% 7 Search PARTIAL+TRISOMY+7P Search PARTIAL+TRISOMY+7P
5 EPG5 665418 3% 86% 6 Search EPG5 Search EPG5
6 7P DUPLICATION 517548 2% 100% 4 Search 7P+DUPLICATION Search 7P+DUPLICATION
7 DUPLICATION 7P 517548 2% 100% 4 Search DUPLICATION+7P Search DUPLICATION+7P
8 GREIG SYNDROME 462094 2% 71% 5 Search GREIG+SYNDROME Search GREIG+SYNDROME
9 7P DUPLICATION SYNDROME 388161 1% 100% 3 Search 7P+DUPLICATION+SYNDROME Search 7P+DUPLICATION+SYNDROME
10 7P TRISOMY SYNDROME 388161 1% 100% 3 Search 7P+TRISOMY+SYNDROME Search 7P+TRISOMY+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 SPEKSNIJDER, L , COHEN-OVERBEEK, TE , KNAPEN, MFCM , LUNSHOF, SM , HOOGEBOOM, AJM , VAN DEN OUWENLAND, AM , DE COO, IFM , LEQUIN, MH , BOLZ, HJ , BERGMANN, C , ET AL (2013) A DE NOVO GLI3 MUTATION IN A PATIENT WITH ACROCALLOSAL SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 161A. ISSUE 6. P. 1394-1400 19 73% 8
2 DEBEER, P , PEETERS, H , DRIESS, S , DE SMET, L , FREESE, K , MATTHIJS, G , BORNHOLDT, D , DEVRIENDT, K , GRZESCHIK, KH , FRYNS, JP , ET AL (2003) VARIABLE PHENOTYPE IN GREIG CEPHALOPOLYSYNDACTYLY SYNDROME: CLINICAL AND RADIOLOGICAL FINDINGS IN 4 INDEPENDENT FAMILIES AND 3 SPORADIC CASES WITH IDENTIFIED GLI3 MUTATIONS.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 120A. ISSUE 1. P. 49-58 18 100% 17
3 ALFARDAN, J , BROWN, K , GESSNER, J , LUNT, B , SCHARER, G , (2011) SMALL DUPLICATION OF CHROMOSOME (7)(P22.1P22.2) AND CONSIDERATION OF A DUP 7P SYNDROME CRITICAL REGION.CLINICAL DYSMORPHOLOGY. VOL. 20. ISSUE 4. P. 217 -221 14 100% 2
4 BRUETON, LA , CHOTAI, KA , VANHERWERDEN, L , SCHINZEL, A , WINTER, RM , (1992) THE ACROCALLOSAL SYNDROME AND GREIG SYNDROME ARE NOT ALLELIC DISORDERS.JOURNAL OF MEDICAL GENETICS. VOL. 29. ISSUE 9. P. 635-637 21 100% 13
5 EID, OM , EID, MM , KAMEL, AK , EL-RUBY, M , ABDEL-SALAM, GMH , (2015) A FEMALE PATIENT WITH DUPLICATION OF 7P13-PTER ASSOCIATED WITH DEL 20P13-PTER RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION.GENETIC COUNSELING. VOL. 26. ISSUE 2. P. 153 -161 12 86% 0
6 COURTENS, W , VAMOS, E , CHRISTOPHE, C , SCHINZEL, A , (1997) ACROCALLOSAL SYNDROME IN AN ALGERIAN BOY BORN TO CONSANGUINEOUS PARENTS: REVIEW OF THE LITERATURE AND FURTHER DELINEATION OF THE SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 69. ISSUE 1. P. 17-22 23 72% 18
7 SCHMIDT, B , TEN CATE, FU , WEISS, M , KOEHLER, U , (2012) CARDIAC MALFORMATION OF PARTIAL TRISOMY 7P/MONOSOMY 18P AND PARTIAL TRISOMY 18P/MONOSOMY 7P IN SIBLINGS AS A RESULT OF RECIPROCAL UNBALANCED MALSEGREGATION-AND REVIEW OF THE LITERATURE.EUROPEAN JOURNAL OF PEDIATRICS. VOL. 171. ISSUE 7. P. 1047-1053 21 51% 3
8 MARAFIE, MJ , TEMTAMY, SA , RAJARAM, U , ALAWADI, SA , ELBADRAMANY, MH , FARAG, TI , (1996) GREIG CEPHALOPOLYSYNDACTYLY SYNDROME WITH DYSGENESIS OF THE CORPUS CALLOSUM IN A BEDOUIN FAMILY.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 66. ISSUE 3. P. 261-264 17 100% 3
9 CAI, T , YU, P , TAGLE, DA , XIA, JH , (1999) DUPLICATION OF 7P21.2 -> PTER DUE TO MATERNAL 7P;21Q TRANSLOCATION: IMPLICATIONS FOR CRITICAL SEGMENT ASSIGNMENT IN THE 7P DUPLICATION SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 86. ISSUE 4. P. 305-311 26 57% 22
10 PAPADOPOULOU, E , SIFAKIS, S , SARRI, C , GYFTODIMOU, J , LIEHR, T , MRASEK, K , KALMANTI, M , PETERSEN, MB , (2006) A REPORT OF PURE 7P DUPLICATION SYNDROME AND REVIEW OF THE LITERATURE.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 140A. ISSUE 24. P. 2802-2806 14 82% 18

Classes with closest relation at Level 1


Rank Class id link
1 36417 URETERAL TRIPLICATION//QUADRUPLICATION//TRIPLICATE URETER
2 36055 SCHINZEL GIEDION SYNDROME//MEGACALYCOSIS//MIDFACE RETRACTION
3 15700 HYPOTHALAMIC HAMARTOMA//GELASTIC SEIZURES//GELASTIC EPILEPSY
4 11506 SYNDACTYLY//POLLICIZATION//RADIAL LONGITUDINAL DEFICIENCY
5 29024 TRISOMY 10Q//MONOSOMY 10Q//DISTAL 10Q TRISOMY
6 15793 FRONTONASAL DYSPLASIA//MACROSTOMIA//PROBOSCIS LATERALIS
7 25706 PALLISTER KILLIAN SYNDROME//TETRASOMY 12P//ISOCHROMOSOME 12P
8 24132 CRI DU CHAT SYNDROME//CRI DU CHAT//CHROMOSOME 5
9 37024 RAB23//CARPENTER SYNDROME//ACROCEPHALOPOLYSYNDACTYLY TYPE II
10 36128 TORIELLO CAREY SYNDROME//RITSCHER SCHINZEL SYNDROME//3C SYNDROME

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