Class information for:
Level 1: MYHRE SYNDROME//GELEOPHYSIC DYSPLASIA//MICROSPHEROPHAKIA

Basic class information
Class id #P Avg. number of
references		 Database coverage
of references
33110 129 15.3 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
14 4 ORTHOPEDICS//DENTISTRY, ORAL SURGERY & MEDICINE//SPORT SCIENCES 808941
474 3       CLEFT PALATE-CRANIOFACIAL JOURNAL//CLEFT PALATE//CRANIOSYNOSTOSIS 23888
2658 2             ACHONDROPLASIA//SKELETAL DYSPLASIA//HYPOCHONDROPLASIA 3456
33110 1                   MYHRE SYNDROME//GELEOPHYSIC DYSPLASIA//MICROSPHEROPHAKIA 129

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 MYHRE SYNDROME authKW 4036524 14% 95% 18
2 GELEOPHYSIC DYSPLASIA authKW 2803136 12% 79% 15
3 MICROSPHEROPHAKIA authKW 2500243 10% 81% 13
4 WEILL MARCHESANI SYNDROME authKW 2048438 12% 58% 15
5 ACROMICRIC DYSPLASIA authKW 1217363 5% 86% 6
6 MOORE FEDERMAN SYNDROME authKW 946839 3% 100% 4
7 ADAMTSL2 authKW 532596 2% 75% 3
8 WEILL MARCHESANI authKW 532596 2% 75% 3
9 SPHEROPHAKIA authKW 473416 3% 50% 4
10 MUSCULAR BUILD authKW 315612 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 1917 50% 0% 65
2 Ophthalmology 1527 29% 0% 38
3 Pediatrics 147 12% 0% 16
4 Medical Ethics 79 2% 0% 2
5 Surgery 10 7% 0% 9
6 Otorhinolaryngology 4 2% 0% 2
7 Dermatology 2 2% 0% 2
8 Tropical Medicine 2 1% 0% 1
9 Orthopedics 1 2% 0% 2
10 Endocrinology & Metabolism 1 2% 0% 3

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 02 UR 08 17 236710 1% 100% 1
2 ANA WILLIAM GOLDBERG GLAUCOMA 236710 1% 100% 1
3 BIOFIS CCFO 236710 1% 100% 1
4 CHILDRENS ORTHOPED HOSP MED PEDIAT 236710 1% 100% 1
5 DEU GENET DIAG 236710 1% 100% 1
6 DUNCAN GUTHRIE MOL GENET 236710 1% 100% 1
7 GENET IMAGINEUNITE INSERM U781 236710 1% 100% 1
8 GENET MED EMBRYOL UNIT 236710 1% 100% 1
9 GENETUNITE INSERM U1163 IMAGINE 236710 1% 100% 1
10 HP 47 83 236710 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 CLINICAL DYSMORPHOLOGY 13583 6% 1% 8
2 AMERICAN JOURNAL OF MEDICAL GENETICS 8774 14% 0% 18
3 INDIAN JOURNAL OF OPHTHALMOLOGY 6415 5% 0% 6
4 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 5909 9% 0% 12
5 CLINICAL GENETICS 2274 5% 0% 7
6 JOURNAL OF CATARACT AND REFRACTIVE SURGERY 1988 6% 0% 8
7 OPTOMETRY-JOURNAL OF THE AMERICAN OPTOMETRIC ASSOCIATION 1153 1% 0% 1
8 AUSTRALIAN AND NEW ZEALAND JOURNAL OF OPHTHALMOLOGY 1023 2% 0% 2
9 JOURNAL OF MEDICAL GENETICS 1017 4% 0% 5
10 GENETIC COUNSELING 1002 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 MYHRE SYNDROME 4036524 14% 95% 18 Search MYHRE+SYNDROME Search MYHRE+SYNDROME
2 GELEOPHYSIC DYSPLASIA 2803136 12% 79% 15 Search GELEOPHYSIC+DYSPLASIA Search GELEOPHYSIC+DYSPLASIA
3 MICROSPHEROPHAKIA 2500243 10% 81% 13 Search MICROSPHEROPHAKIA Search MICROSPHEROPHAKIA
4 WEILL MARCHESANI SYNDROME 2048438 12% 58% 15 Search WEILL+MARCHESANI+SYNDROME Search WEILL+MARCHESANI+SYNDROME
5 ACROMICRIC DYSPLASIA 1217363 5% 86% 6 Search ACROMICRIC+DYSPLASIA Search ACROMICRIC+DYSPLASIA
6 MOORE FEDERMAN SYNDROME 946839 3% 100% 4 Search MOORE+FEDERMAN+SYNDROME Search MOORE+FEDERMAN+SYNDROME
7 ADAMTSL2 532596 2% 75% 3 Search ADAMTSL2 Search ADAMTSL2
8 WEILL MARCHESANI 532596 2% 75% 3 Search WEILL+MARCHESANI Search WEILL+MARCHESANI
9 SPHEROPHAKIA 473416 3% 50% 4 Search SPHEROPHAKIA Search SPHEROPHAKIA
10 MUSCULAR BUILD 315612 2% 67% 2 Search MUSCULAR+BUILD Search MUSCULAR+BUILD

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 GARAVELLI, L , MAINI, I , BACCILIERI, F , IVANOVSKI, I , POLLAZZON, M , ROSATO, S , IUGHETTI, L , UNGER, S , SUPERTI-FURGA, A , TARTAGLIA, M , (2016) NATURAL HISTORY AND LIFE-THREATENING COMPLICATIONS IN MYHRE SYNDROME AND REVIEW OF THE LITERATURE.EUROPEAN JOURNAL OF PEDIATRICS. VOL. 175. ISSUE 10. P. 1307 -1315 20 95% 0
2 STARR, LJ , GRANGE, DK , DELANEY, JW , YETMAN, AT , HAMMEL, JM , SANMANN, JN , PERRY, DA , SCHAEFER, GB , OLNEY, AH , (2015) MYHRE SYNDROME: CLINICAL FEATURES AND RESTRICTIVE CARDIOPULMONARY COMPLICATIONS.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 167. ISSUE 12. P. 2893 -2901 18 86% 4
3 MICHOT, C , LE GOFF, C , MAHAUT, C , AFENJAR, A , BROOKS, AS , CAMPEAU, PM , DESTREE, A , DI ROCCO, M , DONNAI, D , HENNEKAM, R , ET AL (2014) MYHRE AND LAPS SYNDROMES: CLINICAL AND MOLECULAR REVIEW OF 32 PATIENTS.EUROPEAN JOURNAL OF HUMAN GENETICS. VOL. 22. ISSUE 11. P. 1272 -1277 17 71% 6
4 LIN, AE , MICHOT, C , CORMIER-DAIRE, V , L'ECUYER, TJ , MATHERNE, GP , BARNES, BH , HUMBERSON, JB , EDMONDSON, AC , ZACKAI, E , O'CONNOR, MJ , ET AL (2016) GAIN-OF-FUNCTION MUTATIONS IN SMAD4 CAUSE A DISTINCTIVE REPERTOIRE OF CARDIOVASCULAR PHENOTYPES IN PATIENTS WITH MYHRE SYNDROME.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 170. ISSUE 10. P. 2617 -2631 25 48% 0
5 MCGOWAN, R , GULATI, R , MCHENRY, P , COOKE, A , BUTLER, S , KENG, WT , MURDAY, V , WHITEFORD, M , DIKKERS, FG , SIKKEMA-RADDATZ, B , ET AL (2011) CLINICAL FEATURES AND RESPIRATORY COMPLICATIONS IN MYHRE SYNDROME.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 54. ISSUE 6. P. E553-E559 14 93% 6
6 AL AGEELI, E , MIGNOT, C , AFENJAR, A , WHALEN, S , DORISON, N , MAYER, M , ESTEVA, B , DUBERN, B , MOMTCHILOVA, M , LE GARGASSON, JF , ET AL (2012) RETINAL INVOLVEMENT IN TWO UNRELATED PATIENTS WITH MYHRE SYNDROME.EUROPEAN JOURNAL OF MEDICAL GENETICS. VOL. 55. ISSUE 10. P. 541-547 12 100% 4
7 LE GOFF, C , MICHOT, C , CORMIER-DAIRE, V , (2014) MYHRE SYNDROME.CLINICAL GENETICS. VOL. 85. ISSUE 6. P. 503-513 21 51% 6
8 ASAKURA, Y , MUROYA, K , SATO, T , KUROSAWA, K , NISHIMURA, G , ADACHI, M , (2012) FIRST CASE OF A JAPANESE GIRL WITH MYHRE SYNDROME DUE TO A HETEROZYGOUS SMAD4 MUTATION.AMERICAN JOURNAL OF MEDICAL GENETICS PART A. VOL. 158A. ISSUE 8. P. 1982 -1986 15 71% 6
9 BURGLEN, L , HERON, D , MOERMAN, A , DIEUX-COESLIER, A , BOURGUIGNON, JP , BACHY, A , CAREL, JC , CORMIER-DAIRE, V , MANOUVRIER, S , VERLOES, A , (2003) MYHRE SYNDROME: NEW REPORTS, REVIEW, AND DIFFERENTIAL DIAGNOSIS.JOURNAL OF MEDICAL GENETICS. VOL. 40. ISSUE 7. P. 546-551 13 93% 23
10 SENTHIL, S , RAO, HL , HOANG, NTQ , JONNADULA, GB , ADDEPALLI, UK , MANDAL, AK , GARUDADARI, CS , (2014) GLAUCOMA IN MICROSPHEROPHAKIA: PRESENTING FEATURES AND TREATMENT OUTCOMES.JOURNAL OF GLAUCOMA. VOL. 23. ISSUE 4. P. 262-267 10 83% 5

Classes with closest relation at Level 1


Rank Class id link
1 31161 CARPAL COALITION//FAMILIAL CARPAL TUNNEL SYNDROME//MELBOURNE PEDIAT HAND
2 2309 MARFAN SYNDROME//FIBRILLIN//FBN1
3 6495 SCLERAL FIXATION//JOURNAL OF CATARACT AND REFRACTIVE SURGERY//APHAKIA
4 35936 DYGGVE MELCHIOR CLAUSEN SYNDROME//DYMECLIN//AXIAL OSTEOMALACIA
5 34967 CAROTIDYNIA//SUBACUTE ANGLE CLOSURE GLAUCOMA//AND CT
6 20430 PROXIMAL SYMPHALANGISM//SYMPHALANGISM//NOG
7 34680 BIOMED ENGN UNITUNIV CARDIOL 1BIOMED ENGN//CLIN EXPT MEDRHEUMATOL//DIAGNOST ANESTHESIA TECHNOL
8 21832 HOMOCYSTINURIA//CYSTATHIONINE BETA SYNTHASE//CYSTATHIONINE BETA SYNTHASE DEFICIENCY
9 33440 TRISOMY 20P//TRISOMY 6P//NEURENSIN 2
10 34066 MULIBREY NANISM//3 M SYNDROME//TRIM37

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