Class information for:
Level 1: SMITH LEMLI OPITZ SYNDROME//7 DEHYDROCHOLESTEROL//CHONDRODYSPLASIA PUNCTATA

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
10482 1059 32.8 74%


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
71 3       GENETICS & HEREDITY//CHROMATIN//CELL BIOLOGY 83302
2436 2             LAMIN//LAMINOPATHY//NUCLEAR ENVELOPE 4106
10482 1                   SMITH LEMLI OPITZ SYNDROME//7 DEHYDROCHOLESTEROL//CHONDRODYSPLASIA PUNCTATA 1059

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 SMITH LEMLI OPITZ SYNDROME authKW 4632031 18% 85% 188
2 7 DEHYDROCHOLESTEROL authKW 1588665 8% 61% 90
3 CHONDRODYSPLASIA PUNCTATA authKW 1495147 6% 79% 66
4 DHCR7 authKW 730187 3% 77% 33
5 BINDER SYNDROME authKW 593121 2% 86% 24
6 SLOS authKW 525937 2% 79% 23
7 CHILD SYNDROME authKW 489037 2% 81% 21
8 SMITH LEMLI OPITZ authKW 462921 2% 94% 17
9 7 DEHYDROCHOLESTEROL REDUCTASE authKW 452540 2% 83% 19
10 SELADIN 1 authKW 427139 2% 74% 20

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 6858 34% 0% 358
2 Pediatrics 967 11% 0% 119
3 Dermatology 852 7% 0% 77
4 Endocrinology & Metabolism 483 9% 0% 99
5 Biochemistry & Molecular Biology 310 18% 0% 193
6 Medicine, Research & Experimental 271 7% 0% 75
7 Obstetrics & Gynecology 206 5% 0% 53
8 Radiology, Nuclear Medicine & Medical Imaging 88 5% 0% 51
9 Medical Ethics 79 1% 0% 6
10 Developmental Biology 60 2% 0% 20

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 UNIT MOL DYSMORPHOL 184525 1% 80% 8
2 TRANSFER HIGH EDUC CHRON INFLAMMATORY D 161446 1% 40% 14
3 HERITABLE DISORDERS BRANCH 103169 3% 13% 28
4 SECT MOL DYSMORPHOL 67267 1% 33% 7
5 CHILD DEV REHABIL 55730 2% 9% 21
6 FUNCT GENOM BIOCHIPS 44341 1% 15% 10
7 KENNEDY KRIEGER 41670 3% 5% 31
8 SERV EMBRYOL 38442 0% 67% 2
9 DOERNBECHER MEM HOSP CHILDREN 38426 1% 13% 10
10 EXPT PHYLAXIOL 36033 0% 25% 5

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 32924 9% 1% 100
2 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 10529 4% 1% 46
3 JOURNAL OF LIPID RESEARCH 9460 5% 1% 53
4 AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 3805 1% 2% 8
5 PRENATAL DIAGNOSIS 3723 3% 0% 27
6 CLINICAL DYSMORPHOLOGY 3110 1% 1% 11
7 JOURNAL OF INHERITED METABOLIC DISEASE 3049 2% 0% 22
8 MOLECULAR GENETICS AND METABOLISM 2965 2% 1% 18
9 JOURNAL OF MEDICAL GENETICS 1769 2% 0% 19
10 CLINICAL GENETICS 1610 2% 0% 17

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 SMITH LEMLI OPITZ SYNDROME 4632031 18% 85% 188 Search SMITH+LEMLI+OPITZ+SYNDROME Search SMITH+LEMLI+OPITZ+SYNDROME
2 7 DEHYDROCHOLESTEROL 1588665 8% 61% 90 Search 7+DEHYDROCHOLESTEROL Search 7+DEHYDROCHOLESTEROL
3 CHONDRODYSPLASIA PUNCTATA 1495147 6% 79% 66 Search CHONDRODYSPLASIA+PUNCTATA Search CHONDRODYSPLASIA+PUNCTATA
4 DHCR7 730187 3% 77% 33 Search DHCR7 Search DHCR7
5 BINDER SYNDROME 593121 2% 86% 24 Search BINDER+SYNDROME Search BINDER+SYNDROME
6 SLOS 525937 2% 79% 23 Search SLOS Search SLOS
7 CHILD SYNDROME 489037 2% 81% 21 Search CHILD+SYNDROME Search CHILD+SYNDROME
8 SMITH LEMLI OPITZ 462921 2% 94% 17 Search SMITH+LEMLI+OPITZ Search SMITH+LEMLI+OPITZ
9 7 DEHYDROCHOLESTEROL REDUCTASE 452540 2% 83% 19 Search 7+DEHYDROCHOLESTEROL+REDUCTASE Search 7+DEHYDROCHOLESTEROL+REDUCTASE
10 SELADIN 1 427139 2% 74% 20 Search SELADIN+1 Search SELADIN+1

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 PORTER, FD , HERMAN, GE , (2011) MALFORMATION SYNDROMES CAUSED BY DISORDERS OF CHOLESTEROL SYNTHESIS.JOURNAL OF LIPID RESEARCH. VOL. 52. ISSUE 1. P. 6 -34 177 60% 118
2 DEBARBER, AE , EROGLU, Y , MERKENS, LS , PAPPU, AS , STEINER, RD , (2011) SMITH-LEMLI-OPITZ SYNDROME.EXPERT REVIEWS IN MOLECULAR MEDICINE. VOL. 13. ISSUE . P. - 100 88% 24
3 BIANCONI, SE , CROSS, JL , WASSIF, CA , PORTER, FD , (2015) PATHOGENESIS, EPIDEMIOLOGY, DIAGNOSIS AND CLINICAL ASPECTS OF SMITH-LEMLI-OPITZ SYNDROME.EXPERT OPINION ON ORPHAN DRUGS. VOL. 3. ISSUE 3. P. 267 -280 87 91% 5
4 NOWACZYK, MJM , IRONS, MB , (2012) SMITH-LEMLI-OPITZ SYNDROME: PHENOTYPE, NATURAL HISTORY, AND EPIDEMIOLOGY.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 160C. ISSUE 4. P. 250-262 95 87% 22
5 HERMAN, GE , KRATZ, L , (2012) DISORDERS OF STEROL SYNTHESIS: BEYOND SMITH-LEMLI-OPITZ SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 160C. ISSUE 4. P. 301-321 73 76% 6
6 KELLEY, RI , HENNEKAM, RCM , (2000) THE SMITH-LEMLI-OPITZ SYNDROME.JOURNAL OF MEDICAL GENETICS. VOL. 37. ISSUE 5. P. 321 -335 72 68% 245
7 WATERHAM, HR , HENNEKAM, RCM , (2012) MUTATIONAL SPECTRUM OF SMITH-LEMLI-OPITZ SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 160C. ISSUE 4. P. 263-284 47 92% 11
8 ROSSI, M , HALL, CM , BOUVIER, R , COLLARDEAU-FRACHON, S , LE BRETON, F , BUCOURT, M , CORDIER, MP , VIANEY-SABAN, C , PARENTI, G , ANDRIA, G , ET AL (2015) RADIOGRAPHIC FEATURES OF THE SKELETON IN DISORDERS OF POST-SQUALENE CHOLESTEROL BIOSYNTHESIS.PEDIATRIC RADIOLOGY. VOL. 45. ISSUE 7. P. 965 -976 50 82% 1
9 BLASSBERG, R , MACRAE, JI , BRISCOE, J , JACOB, J , (2016) REDUCED CHOLESTEROL LEVELS IMPAIR SMOOTHENED ACTIVATION IN SMITH-LEMLI-OPITZ SYNDROME.HUMAN MOLECULAR GENETICS. VOL. 25. ISSUE 4. P. 693 -705 47 55% 8
10 GINAT, S , MASLEN, CL , CONNER, WE , PORTER, FD , STEINER, RD , (2000) SMITH-LEMLI-OPITZ SYNDROME: A MULTIPLE MALFORMATION/MENTAL RETARDATION SYNDROME CAUSED BY DEFECTIVE CHOLESTEROL SYNTHESIS.ENDOCRINOLOGIST. VOL. 10. ISSUE 5. P. 300-313 75 75% 2

Classes with closest relation at Level 1


Rank Class id link
1 33824 MATERNAL HYPERCHOLESTEROLEMIA//GLC OXLDL//MTF 110
2 30206 VERRUCIFORM XANTHOMA//XANTHOMA//XANTHOMATOSIS
3 36588 PELGER HUET ANOMALY//PELGER HUET//PSEUDO PELGER HUET ANOMALY
4 30621 SEROTONIN1A RECEPTOR//BOVINE HIPPOCAMPUS//P MPPF
5 6968 STEROL METHYLTRANSFERASE//STEROL C24 METHYLTRANSFERASE//ERGOSTEROL BIOSYNTHESIS
6 6474 24S HYDROXYCHOLESTEROL//CYP46//CYP46A1
7 12166 HOLOPROSENCEPHALY//TGIF//CYCLOPIA
8 8938 SREBP//SCAP//STEROL REGULATORY ELEMENT BINDING PROTEIN
9 22902 SHOX//LERI WEILL DYSCHONDROSTEOSIS//SHOX GENE
10 15263 INCONTINENTIA PIGMENTI//HYPOMELANOSIS OF ITO//BLOCH SULZBERGER SYNDROME

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