Class information for:
Level 1: ACRO CARDIO FACIAL SYNDROME//CHROMOSOME 6Q DELETION//SIM1 GENE

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
27098 237 27.3 78%


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
27098 1                   ACRO CARDIO FACIAL SYNDROME//CHROMOSOME 6Q DELETION//SIM1 GENE 237

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 ACRO CARDIO FACIAL SYNDROME authKW 773047 3% 100% 6
2 CHROMOSOME 6Q DELETION authKW 773047 3% 100% 6
3 SIM1 GENE authKW 515365 2% 100% 4
4 6Q DELETION authKW 433982 3% 42% 8
5 CHROMOSOME 6 DUPLICATION authKW 386523 1% 100% 3
6 CHROMOSOME 6Q DUPLICATION authKW 386523 1% 100% 3
7 SIM1 authKW 343566 3% 33% 8
8 6Q DUPLICATION authKW 257682 1% 100% 2
9 6Q TERMINAL DELETION SYNDROME authKW 257682 1% 100% 2
10 DUPLICATION 6Q authKW 257682 1% 100% 2

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 6103 66% 0% 156
2 Developmental Biology 182 6% 0% 14
3 Medical Ethics 172 2% 0% 4
4 Endocrinology & Metabolism 85 8% 0% 20
5 Anatomy & Morphology 47 2% 0% 5
6 Biochemistry & Molecular Biology 19 12% 0% 29
7 Medicine, Research & Experimental 15 4% 0% 10
8 Nutrition & Dietetics 12 3% 0% 6
9 Cell Biology 10 5% 0% 13
10 Pediatrics 7 3% 0% 7

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 BDR CECOS 128841 0% 100% 1
2 BRISTOL MYERS SQUIBB CHILDRENS HOSP NEONATOL 128841 0% 100% 1
3 BRISTOL MYERS SQUIBB CHILDRENS HOSP PATHOL 128841 0% 100% 1
4 BRISTOL MYERS SQUIBB CHILDRENS HOSP PEDIAT 128841 0% 100% 1
5 BRISTOL MYERS SQUIBB CHILDRENS HOSP PEDIAT GE 128841 0% 100% 1
6 CLIN GENT IDENCY PROGRAM 128841 0% 100% 1
7 CNRSIGDR GENET MOLUMR 6290 128841 0% 100% 1
8 DEP NEUROSCI REHABIL OPHTHALMOL GENET MATERNAL 128841 0% 100% 1
9 DIAGNOST PRENATALE 128841 0% 100% 1
10 DIPARTIMENTALE SCI GINECOL OSTETR RIPROD STUDI 128841 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 14162 13% 0% 31
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 12870 10% 0% 24
3 ANNALES DE GENETIQUE 11243 4% 1% 10
4 EUROPEAN JOURNAL OF MEDICAL GENETICS 9169 4% 1% 9
5 CLINICAL GENETICS 7310 7% 0% 17
6 MOLECULAR CYTOGENETICS 6631 2% 1% 5
7 CLINICAL DYSMORPHOLOGY 2881 2% 0% 5
8 JOURNAL DE GENETIQUE HUMAINE 2767 1% 1% 2
9 JOURNAL OF MEDICAL GENETICS 2216 4% 0% 10
10 GENETIC COUNSELING 2183 2% 0% 4

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 ACRO CARDIO FACIAL SYNDROME 773047 3% 100% 6 Search ACRO+CARDIO+FACIAL+SYNDROME Search ACRO+CARDIO+FACIAL+SYNDROME
2 CHROMOSOME 6Q DELETION 773047 3% 100% 6 Search CHROMOSOME+6Q+DELETION Search CHROMOSOME+6Q+DELETION
3 SIM1 GENE 515365 2% 100% 4 Search SIM1+GENE Search SIM1+GENE
4 6Q DELETION 433982 3% 42% 8 Search 6Q+DELETION Search 6Q+DELETION
5 CHROMOSOME 6 DUPLICATION 386523 1% 100% 3 Search CHROMOSOME+6+DUPLICATION Search CHROMOSOME+6+DUPLICATION
6 CHROMOSOME 6Q DUPLICATION 386523 1% 100% 3 Search CHROMOSOME+6Q+DUPLICATION Search CHROMOSOME+6Q+DUPLICATION
7 SIM1 343566 3% 33% 8 Search SIM1 Search SIM1
8 6Q DUPLICATION 257682 1% 100% 2 Search 6Q+DUPLICATION Search 6Q+DUPLICATION
9 6Q TERMINAL DELETION SYNDROME 257682 1% 100% 2 Search 6Q+TERMINAL+DELETION+SYNDROME Search 6Q+TERMINAL+DELETION+SYNDROME
10 DUPLICATION 6Q 257682 1% 100% 2 Search DUPLICATION+6Q Search DUPLICATION+6Q

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 HOPKIN, RJ , SCHORRY, E , BOFINGER, M , MILATOVICH, A , STERN, HJ , JAYNE, C , SAAL, HM , (1997) NEW INSIGHTS INTO THE PHENOTYPES OF 6Q DELETIONS.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 70. ISSUE 4. P. 377-386 30 94% 75
2 EL KHATTABI, L , GUIMIOT, F , PIPIRAS, E , ANDRIEUX, J , BAUMANN, C , BOUQUILLON, S , DELEZOIDE, AL , DELOBEL, B , DEMURGER, F , DESSUANT, H , ET AL (2015) INCOMPLETE PENETRANCE AND PHENOTYPIC VARIABILITY OF 6Q16 DELETIONS INCLUDING SIM1.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 23. ISSUE 8. P. 1010 -1018 26 57% 1
3 CERMINARA, C , BOMBARDIERI, R , PINCI, M , SERI, S , CURATOLO, P , (2006) DELETION OF THE LONG ARM OF CHROMOSOME 6: REPORT ON A NEW CASE WITH INTRACTABLE EPILEPSY.JOURNAL OF CHILD NEUROLOGY. VOL. 21. ISSUE 6. P. 527-531 19 95% 1
4 BOY, R , PIMENTEL, MMG , HEMERLY, P , SILVA, MDS , BARREIRO, AP , DE ALMEIDA, JCC , LLERENA, J , (1998) CHROMOSOME 6Q DELETION: REPORT OF A NEW CASE AND REVIEW OF THE LITERATURE.GENETICS AND MOLECULAR BIOLOGY. VOL. 21. ISSUE 1. P. 145-149 22 100% 0
5 WOO, KS , KIM, JE , KIM, KE , KIM, MJ , YOO, JH , AHN, HS , SHAFFER, LG , HAN, JY , (2010) A DE NOVO PROXIMAL 6Q DELETION CONFIRMED BY ARRAY COMPARATIVE GENOMIC HYBRIDIZATION.KOREAN JOURNAL OF LABORATORY MEDICINE. VOL. 30. ISSUE 1. P. 84 -88 17 85% 4
6 EVERS, LJM , SCHRANDERSTUMPEL, CTRM , ENGELEN, JJM , HOORNTJE, TM , PULLESHEINTZBERGER, CFM , SCHRANDER, JJP , ALBRECHTS, JCM , PETERS, J , FRYNS, JP , (1996) DELETION OF THE LONG ARM OF CHROMOSOME 6: TWO NEW PATIENTS AND LITERATURE REVIEW.CLINICAL GENETICS. VOL. 50. ISSUE 3. P. 138-144 24 89% 22
7 TOSCHI, B , VALETTO, A , BERTINI, V , CONGREGATI, C , CANTINOTTI, M , ASSANTA, N , SIMI, P , (2012) ACRO-CARDIO-FACIAL SYNDROME: A MICRODELETION SYNDROME?.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 158A. ISSUE 8. P. 1994 -1999 15 88% 7
8 GEETS, E , ZEGERS, D , BECKERS, S , VERRIJKEN, A , MASSA, G , VAN HOORENBEECK, K , VERHULST, S , VAN GAAL, L , VAN HUL, W , (2016) COPY NUMBER VARIATION (CNV) ANALYSIS AND MUTATION ANALYSIS OF THE 6Q14.1-6Q16.3 GENES SIM1 AND MRAP2 IN PRADER WILLI LIKE PATIENTS.MOLECULAR GENETICS AND METABOLISM. VOL. 117. ISSUE 3. P. 383 -388 19 58% 1
9 VIGNOLI, A , SCORNAVACCA, GF , PERON, A , LA BRIOLA, F , CANEVINI, MP , (2013) INTERSTITIAL 6Q MICRODELETION SYNDROME AND EPILEPSY: A NEW PATIENT AND REVIEW OF THE LITERATURE.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 161. ISSUE 8. P. 2009-2015 14 88% 3
10 VILLA, A , URIOSTE, M , BOFARULL, JM , MARTINEZFRIAS, ML , (1995) DE-NOVO INTERSTITIAL DELETION Q16.2Q21 ON CHROMOSOME-6.AMERICAN JOURNAL OF MEDICAL GENETICS. VOL. 55. ISSUE 3. P. 379-383 19 100% 45

Classes with closest relation at Level 1


Rank Class id link
1 36950 NPAS4//NPAS3//LE PAS
2 20601 COMPLEX CHROMOSOMAL REARRANGEMENT//COMPLEX CHROMOSOME REARRANGEMENT//CHROMOTHRIPSIS
3 6924 SUBTELOMERIC REARRANGEMENTS//ARRAY CGH//MBD5
4 26502 PARACENTRIC INVERSION//PARTIAL TRISOMY 2P//TRISOMY 2P
5 16491 NEONATAL DIABETES//NEONATAL DIABETES MELLITUS//WOLCOTT RALLISON SYNDROME
6 33589 TRISOMY 16Q//TRISOMY 16P//DUPLICATION CHROMOSOME 16P
7 14805 FOXC1//PETERS ANOMALY//AXENFELD RIEGER SYNDROME
8 10418 SUPERNUMERARY MARKER CHROMOSOME//MARKER CHROMOSOME//SMALL SUPERNUMERARY MARKER CHROMOSOME
9 24663 TRISOMY 1Q//PARTIAL TRISOMY 1Q//3P SYNDROME
10 24132 CRI DU CHAT SYNDROME//CRI DU CHAT//CHROMOSOME 5

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