Class information for:
Level 1: SCHIMKE IMMUNO OSSEOUS DYSPLASIA//SMARCAL1//SIOD

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
33700 121 29.7 84%


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
4078 2             KABUKI SYNDROME//SCHIMKE IMMUNO OSSEOUS DYSPLASIA//KABUKI MAKE UP SYNDROME 600
33700 1                   SCHIMKE IMMUNO OSSEOUS DYSPLASIA//SMARCAL1//SIOD 121

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 SCHIMKE IMMUNO OSSEOUS DYSPLASIA authKW 8075526 26% 100% 32
2 SMARCAL1 authKW 4767797 19% 82% 23
3 SIOD authKW 2018882 7% 100% 8
4 ANNEALING HELICASE authKW 1261801 4% 100% 5
5 SPONDYLOEPIPHYSEAL DYSPLASIA authKW 922893 13% 23% 16
6 SCHIMKE authKW 757081 2% 100% 3
7 IMMUNOOSSEOUS DYSPLASIA authKW 504720 2% 100% 2
8 ROIFMAN SYNDROME authKW 504720 2% 100% 2
9 SMARCAL1 GENE authKW 504720 2% 100% 2
10 C CIRCLE authKW 336479 2% 67% 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 1002 38% 0% 46
2 Pediatrics 648 26% 0% 31
3 Urology & Nephrology 123 10% 0% 12
4 Developmental Biology 118 7% 0% 8
5 Cell Biology 104 17% 0% 20
6 Allergy 54 3% 0% 4
7 Biochemistry & Molecular Biology 27 17% 0% 20
8 Transplantation 24 3% 0% 4
9 Immunology 12 7% 0% 8
10 Education, Special 6 1% 0% 1

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 CONSULTA GENET 336479 2% 67% 2
2 CHRCHC 252360 1% 100% 1
3 CONNECT TISSUE DYSPLASIA MGT SERV 252360 1% 100% 1
4 CONSULTA IMUNODEFICIENCIA 252360 1% 100% 1
5 CONSULTA NEFROL 252360 1% 100% 1
6 DONNELLY CELLULAR 252360 1% 100% 1
7 HM TIMONE ENFANT 252360 1% 100% 1
8 IMMUNOL ID 252360 1% 100% 1
9 JMF 252360 1% 100% 1
10 KFH KINDERDIALYSE 252360 1% 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 NUCLEUS 8501 2% 1% 3
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 5293 9% 0% 11
3 PEDIATRIC NEPHROLOGY 2038 6% 0% 7
4 IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA 1680 2% 0% 3
5 AMERICAN JOURNAL OF MEDICAL GENETICS 1407 6% 0% 7
6 JOURNAL OF INVESTIGATIONAL ALLERGOLOGY & CLINICAL IMMUNOLOGY 1400 1% 1% 1
7 GENES & DEVELOPMENT 1215 5% 0% 6
8 CURRENT OPINION IN GENETICS & DEVELOPMENT 1158 2% 0% 3
9 EPIGENETICS 984 1% 0% 1
10 ORPHANET JOURNAL OF RARE DISEASES 905 2% 0% 2

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 SCHIMKE IMMUNO OSSEOUS DYSPLASIA 8075526 26% 100% 32 Search SCHIMKE+IMMUNO+OSSEOUS+DYSPLASIA Search SCHIMKE+IMMUNO+OSSEOUS+DYSPLASIA
2 SMARCAL1 4767797 19% 82% 23 Search SMARCAL1 Search SMARCAL1
3 SIOD 2018882 7% 100% 8 Search SIOD Search SIOD
4 ANNEALING HELICASE 1261801 4% 100% 5 Search ANNEALING+HELICASE Search ANNEALING+HELICASE
5 SPONDYLOEPIPHYSEAL DYSPLASIA 922893 13% 23% 16 Search SPONDYLOEPIPHYSEAL+DYSPLASIA Search SPONDYLOEPIPHYSEAL+DYSPLASIA
6 SCHIMKE 757081 2% 100% 3 Search SCHIMKE Search SCHIMKE
7 IMMUNOOSSEOUS DYSPLASIA 504720 2% 100% 2 Search IMMUNOOSSEOUS+DYSPLASIA Search IMMUNOOSSEOUS+DYSPLASIA
8 ROIFMAN SYNDROME 504720 2% 100% 2 Search ROIFMAN+SYNDROME Search ROIFMAN+SYNDROME
9 SMARCAL1 GENE 504720 2% 100% 2 Search SMARCAL1+GENE Search SMARCAL1+GENE
10 C CIRCLE 336479 2% 67% 2 Search C+CIRCLE Search C+CIRCLE

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 HUNTER, KB , LUCKE, T , SPRANGER, J , SMITHSON, SF , ALPAY, H , ANDRE, JL , ASAKURA, Y , BOGDANOVIC, R , BONNEAU, D , CAIRNS, R , ET AL (2010) SCHIMKE IMMUNOOSSEOUS DYSPLASIA: DEFINING SKELETAL FEATURES.EUROPEAN JOURNAL OF PEDIATRICS. VOL. 169. ISSUE 7. P. 801 -811 23 85% 4
2 BARRAZA-GARCIA, J , RIVERA-PEDROZA, CI , BELINCHON, A , FERNANDEZ-CAMBLOR, C , VALENCIANO-FUENTE, B , LAPUNZINA, P , HEATH, KE , (2016) A NOVEL SMARCAL1 MISSENSE MUTATION THAT AFFECTS SPLICING IN A SEVERELY AFFECTED SCHIMKE IMMUNOOSSEOUS DYSPLASIA PATIENT.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 59. ISSUE 8. P. 363 -366 19 86% 0
3 SANYAL, M , MORIMOTO, M , BARADARAN-HERAVI, A , CHOI, K , KAMBHAM, N , JENSEN, K , DUTT, S , DIONIS-PETERSEN, KY , LIU, LX , FELIX, K , ET AL (2015) LACK OF IL7R ALPHA EXPRESSION IN T CELLS IS A HALLMARK OF T-CELL IMMUNODEFICIENCY IN SCHIMKE IMMUNO-OSSEOUS DYSPLASIA (SIOD).CLINICAL IMMUNOLOGY. VOL. 161. ISSUE 2. P. 355 -365 21 64% 0
4 BARADARAN-HERAVI, A , RAAMS, A , LUBIENIECKA, J , CHO, KS , DEHAAI, KA , BASIRATNIA, M , MARI, PO , XUE, YT , RAUTH, M , OLNEY, AH , ET AL (2012) SMARCAL1 DEFICIENCY PREDISPOSES TO NON-HODGKIN LYMPHOMA AND HYPERSENSITIVITY TO GENOTOXIC AGENTS IN VIVO.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 158A. ISSUE 9. P. 2204-2213 21 58% 12
5 WESTBROEK, EM , MUKERJI, N , KALANITHI, P , STEINBERG, GK , (2015) INTERNAL CAROTID ARTERY SURGICAL REVASCULARIZATION IN A PEDIATRIC PATIENT WITH SCHIMKE IMMUNO-OSSEOUS DYSPLASIA.JOURNAL OF NEUROSURGERY-PEDIATRICS. VOL. 15. ISSUE 2. P. 189 -191 12 100% 0
6 ELIZONDO, LI , HUANG, C , NORTHROP, JL , DEGUCHI, K , CLEWING, JM , ARMSTRONG, DL , BOERKOEL, CF , (2006) SCHINIKE IMMUNO-OSSEOUS DYSPLASIA: A CELL AUTONOMOUS DISORDER?.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 140A. ISSUE 4. P. 340-348 19 76% 16
7 CARROLL, C , BADU-NKANSAH, A , HUNLEY, T , BARADARAN-HERAVI, A , CORTEZ, D , FRANGOUL, H , (2013) SCHIMKE IMMUNOOSSEOUS DYSPLASIA ASSOCIATED WITH UNDIFFERENTIATED CARCINOMA AND A NOVEL SMARCAL1 MUTATION IN A CHILD.PEDIATRIC BLOOD & CANCER. VOL. 60. ISSUE 9. P. E88-E90 18 67% 2
8 SANTANGELO, L , GIGANTE, M , NETTI, GS , DIELLA, S , PUTEO, F , CARBONE, V , GRANDALIANO, G , GIORDANO, M , GESUALDO, L , (2014) A NOVEL SMARCAL1 MUTATION ASSOCIATED WITH A MILD PHENOTYPE OF SCHIMKE IMMUNO-OSSEOUS DYSPLASIA (SIOD).BMC NEPHROLOGY. VOL. 15. ISSUE . P. - 13 87% 3
9 CLEWING, JM , ANTALFY, BC , LUCKE, T , NAJAFIAN, B , MARWEDEL, KM , HORI, A , POWEL, RM , DO, AFS , NAJERA, L , SANTACRUZ, K , ET AL (2007) SCHIMKE IMMUNO-OSSEOUS DYSPLASIA: A CLINICOPATHOLOGICAL CORRELATION.JOURNAL OF MEDICAL GENETICS. VOL. 44. ISSUE 2. P. 122-130 20 67% 14
10 LUCKE, T , KANZELMEYER, N , FRANKE, D , HARTMANN, H , EHRICH, JHH , DAS, AM , (2006) SCHINAKE IMMUNOOSSEOUS DYSPLASIA. A PEDIATRIC DISEASE REACHES ADULTHOOD.MEDIZINISCHE KLINIK. VOL. 101. ISSUE 3. P. 208-211 12 100% 2

Classes with closest relation at Level 1


Rank Class id link
1 13708 REPLICATION PROTEIN A//SINGLE STRANDED DNA BINDING PROTEIN//SSB
2 36055 SCHINZEL GIEDION SYNDROME//MEGACALYCOSIS//MIDFACE RETRACTION
3 3273 NUCLEOSOME POSITIONING//ISWI//NUCLEOSOME
4 21802 MAFFUCCI SYNDROME//ENCHONDROMATOSIS//OLLIERS DISEASE
5 5392 TRANSLESION SYNTHESIS//TRANSLESION DNA SYNTHESIS//DNA DAMAGE TOLERANCE
6 36345 ENAMEL PEARLS//REGIONAL ODONTODYSPLASIA//GHOST TEETH
7 18053 SECKEL SYNDROME//ASPM//MCPH1
8 10915 STICKLER SYNDROME//COL2A1//PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
9 2448 CHK1//CHECKPOINT//RAD9
10 12297 SEVERE COMBINED IMMUNODEFICIENCY//OMENN SYNDROME//PRIMARY IMMUNODEFICIENCY

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