Class information for:
Level 1: WOLF HIRSCHHORN SYNDROME//4P DELETION//CHROMOSOME 4

Basic class information

Class id #P Avg. number of
references
Database coverage
of references
18550 547 22.8 65%



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
18550 1                   WOLF HIRSCHHORN SYNDROME//4P DELETION//CHROMOSOME 4 547

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 WOLF HIRSCHHORN SYNDROME authKW 6320422 23% 91% 125
2 4P DELETION authKW 1014945 4% 91% 20
3 CHROMOSOME 4 authKW 610607 7% 29% 38
4 4Q SYNDROME authKW 562872 2% 92% 11
5 PITT ROGERS DANKS SYNDROME authKW 558222 2% 100% 10
6 4P SYNDROME authKW 507473 2% 91% 10
7 LETM1 authKW 496515 2% 68% 13
8 4Q DELETION SYNDROME authKW 446577 1% 100% 8
9 4Q DELETION authKW 396956 1% 89% 8
10 WHS authKW 396956 1% 89% 8

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 16159 70% 0% 385
2 Medical Ethics 4046 5% 0% 29
3 Pediatrics 374 10% 0% 54
4 Obstetrics & Gynecology 155 6% 0% 32
5 Medicine, Research & Experimental 151 7% 0% 40
6 Biotechnology & Applied Microbiology 92 7% 0% 38
7 Education, Special 36 1% 0% 5
8 Clinical Neurology 22 4% 0% 24
9 Developmental Biology 11 1% 0% 7
10 Ophthalmology 10 2% 0% 10

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 CLIN DYSMORPHOL UNIT 125598 1% 75% 3
2 UNITA OSPED PATOL NEONATALE 111644 0% 100% 2
3 CLIN PEDIAT GD DE MARCHI 83730 1% 50% 3
4 CYTOGENET MICROARRAY S 74428 0% 67% 2
5 ACT MED SOCIALE PRECOCE 55822 0% 100% 1
6 ARTEMISIA 55822 0% 100% 1
7 CAMBRIDGE REG CYTOGENET 55822 0% 100% 1
8 CHROMATIN METAB EPIGENET 55822 0% 100% 1
9 CLIN NEUROPSYCHIAT GENET 55822 0% 100% 1
10 CONGENITAL MALFORMAT SYNDROMES 55822 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 GENETIC COUNSELING 49834 5% 3% 29
2 AMERICAN JOURNAL OF MEDICAL GENETICS 36889 14% 1% 76
3 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 28227 10% 1% 54
4 ANNALES DE GENETIQUE 25768 4% 2% 23
5 JOURNAL OF MEDICAL GENETICS 12484 7% 1% 36
6 CLINICAL GENETICS 9202 5% 1% 29
7 AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS 7381 1% 2% 8
8 JOURNAL OF THE IRISH COLLEGES OF PHYSICIANS AND SURGEONS 6201 0% 11% 1
9 EUROPEAN JOURNAL OF MEDICAL GENETICS 5924 2% 1% 11
10 MOLECULAR CYTOGENETICS 5626 1% 1% 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 WOLF HIRSCHHORN SYNDROME 6320422 23% 91% 125 Search WOLF+HIRSCHHORN+SYNDROME Search WOLF+HIRSCHHORN+SYNDROME
2 4P DELETION 1014945 4% 91% 20 Search 4P+DELETION Search 4P+DELETION
3 CHROMOSOME 4 610607 7% 29% 38 Search CHROMOSOME+4 Search CHROMOSOME+4
4 4Q SYNDROME 562872 2% 92% 11 Search 4Q+SYNDROME Search 4Q+SYNDROME
5 PITT ROGERS DANKS SYNDROME 558222 2% 100% 10 Search PITT+ROGERS+DANKS+SYNDROME Search PITT+ROGERS+DANKS+SYNDROME
6 4P SYNDROME 507473 2% 91% 10 Search 4P+SYNDROME Search 4P+SYNDROME
7 LETM1 496515 2% 68% 13 Search LETM1 Search LETM1
8 4Q DELETION SYNDROME 446577 1% 100% 8 Search 4Q+DELETION+SYNDROME Search 4Q+DELETION+SYNDROME
9 4Q DELETION 396956 1% 89% 8 Search 4Q+DELETION Search 4Q+DELETION
10 WHS 396956 1% 89% 8 Search WHS Search WHS

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 BATTAGLIA, A , CAREY, JC , SOUTH, ST , (2015) WOLF-HIRSCHHORN SYNDROME: A REVIEW AND UPDATE.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 169. ISSUE 3. P. 216 -223 44 88% 5
2 STREHLE, EM , BANTOCK, HM , (2003) THE PHENOTYPE OF PATIENTS WITH 4Q-SYNDROME.GENETIC COUNSELING. VOL. 14. ISSUE 2. P. 195-205 55 93% 33
3 SIFAKIS, S , MANOLAKOS, E , VETRO, A , KAPPOU, D , PEITSIDIS, P , KONTODIOU, M , GARAS, A , VRACHNIS, N , KONSTANDINIDOU, A , ZUFFARDI, O , ET AL (2012) PRENATAL DIAGNOSIS OF WOLF-HIRSCHHORN SYNDROME CONFIRMED BY COMPARATIVE GENOMIC HYBRIDIZATION ARRAY: REPORT OF TWO CASES AND REVIEW OF THE LITERATURE.MOLECULAR CYTOGENETICS. VOL. 5. ISSUE . P. - 36 84% 5
4 HO, KS , SOUTH, ST , LORTZ, A , HENSEL, CH , SDANO, MR , VANZO, RJ , MARTIN, MM , PEIFFER, A , LAMBERT, CG , CALHOUN, A , ET AL (2016) CHROMOSOMAL MICROARRAY TESTING IDENTIFIES A 4P TERMINAL REGION ASSOCIATED WITH SEIZURES IN WOLF-HIRSCHHORN SYNDROME.JOURNAL OF MEDICAL GENETICS. VOL. 53. ISSUE 4. P. 256 -263 30 73% 2
5 ZOLLINO, M , MURDOLO, M , MARANGI, G , PECILE, V , GALASSO, C , MAZZANTI, L , NERI, G , (2008) ON THE NOSOLOGY AND PATHOGENESIS OF WOLF-HIRSCHHORN SYNDROME: GENOTYPE-PHENOTYPE CORRELATION ANALYSIS OF 80 PATIENTS AND LITERATURE REVIEW.AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. VOL. 148C. ISSUE 4. P. 257-269 27 93% 58
6 BLANCO-LAGO, R , MALAGA, I , GARCIA-PENAS, JJ , GARCIA-RON, A , (2013) WOLF-HIRSCHHORN SYNDROME. A SERIES OF 27 PATIENTS: THEIR EPIDEMIOLOGICAL AND CLINICAL CHARACTERISTICS. THE CURRENT SITUATION OF THE PATIENTS AND THE OPINIONS OF THEIR CAREGIVERS REGARDING THE DIAGNOSTIC PROCESS.REVISTA DE NEUROLOGIA. VOL. 57. ISSUE 2. P. 49-56 22 100% 1
7 FRIEBE-HOFFMANN, U , REISTER, F , GASPAR, H , HUMMLER, H , LINDNER, W , LATO, K , (2016) THE WOLF-HIRSCHHORN SYNDROME.ZEITSCHRIFT FUR GEBURTSHILFE UND NEONATOLOGIE. VOL. 220. ISSUE 5. P. 195 -199 21 95% 0
8 ANDERSEN, EF , CAREY, JC , EARL, DL , CORZO, D , SUTTIE, M , HAMMOND, P , SOUTH, ST , (2014) DELETIONS INVOLVING GENES WHSC1 AND LETM1 MAY BE NECESSARY, BUT ARE NOT SUFFICIENT TO CAUSE WOLF-HIRSCHHORN SYNDROME.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 22. ISSUE 4. P. 464-470 29 64% 8
9 HANNES, F , VERMEESCH, JR , (2008) BENIGN AND PATHOGENIC COPY NUMBER VARIATION ON THE SHORT ARM OF CHROMOSOME 4.CYTOGENETIC AND GENOME RESEARCH. VOL. 123. ISSUE 1-4. P. 88-93 30 73% 2
10 KITSIOU-TZELI, S , SISMANI, C , KOUMBARIS, G , IOANNIDES, M , KANAVAKIS, E , KOLIALEXI, A , MAVROU, A , TOULIATOU, V , PATSALIS, PC , (2008) DISTAL DEL(4) (Q33) SYNDROME: DETAILED CLINICAL PRESENTATION AND MOLECULAR DESCRIPTION WITH ARRAY-CGH.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 51. ISSUE 1. P. 61-67 21 100% 16

Classes with closest relation at Level 1



Rank Class id link
1 14963 MONOSOMY 21//RING CHROMOSOME 21//RING CHROMOSOME 20
2 14190 TRISOMY 9//TETRASOMY 9P//TRISOMY 9P
3 20601 COMPLEX CHROMOSOMAL REARRANGEMENT//COMPLEX CHROMOSOME REARRANGEMENT//CHROMOTHRIPSIS
4 26502 PARACENTRIC INVERSION//PARTIAL TRISOMY 2P//TRISOMY 2P
5 29024 TRISOMY 10Q//MONOSOMY 10Q//DISTAL 10Q TRISOMY
6 6924 SUBTELOMERIC REARRANGEMENTS//ARRAY CGH//MBD5
7 25706 PALLISTER KILLIAN SYNDROME//TETRASOMY 12P//ISOCHROMOSOME 12P
8 33440 TRISOMY 20P//TRISOMY 6P//NEURENSIN 2
9 24132 CRI DU CHAT SYNDROME//CRI DU CHAT//CHROMOSOME 5
10 24663 TRISOMY 1Q//PARTIAL TRISOMY 1Q//3P SYNDROME

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