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Publication Score Details

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Category Summary
Total Raw Score
118.34
Category Weight
%35
Weighted Score Contribution
41.42

Evaluation Details

Activity
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8‐related intellectual developmental disorders
Criterion: Q3 Article
Summary Info
Authors
YILMAZ MUSTAFA,KAMAŞAK TÜLAY,TERALI KEREM,ÇEBİ ALPER HAN,TÜRKYILMAZ AYBERK
Journal
American Journal of Medical Genetics Part A
Language
İngilizce
Scope
Uluslararası
Peer Review
Hakemli
DOI
10.1002/ajmg.a.63535
Scoring Breakdown
Base Score: 24.00
Base Score Breakdown
  • Diğer Makaleler 2.00
  • Q3 Makalesi 20.00
  • Özgün Makale 2.00
Total (Base) 24.00
Final Score: 29.04
Applied Multipliers
1. in author order (x1.00) Hakemli (x1.10) Uluslararası (x1.10)
Calculation
24.00 × 1.00 × 1.10 × 1.10 = 29.04
Calculated: 05.10.2026 02:04

Activity
Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome
Criterion: Q3 Article
Summary Info
Authors
YILMAZ MUSTAFA,BEBEK OGUN,COLAK YAVUZHAN,TÜRKYILMAZ AYBERK
Journal
Familial Cancer
Language
İngilizce
Scope
Uluslararası
Peer Review
Hakemli
DOI
10.1007/s10689-024-00405-z
Scoring Breakdown
Base Score: 24.00
Base Score Breakdown
  • Diğer Makaleler 2.00
  • Q3 Makalesi 20.00
  • Özgün Makale 2.00
Total (Base) 24.00
Final Score: 29.04
Applied Multipliers
1. in author order (x1.00) Hakemli (x1.10) Uluslararası (x1.10)
Calculation
24.00 × 1.00 × 1.10 × 1.10 = 29.04
Calculated: 05.10.2026 02:04

Activity
Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the <i>DHCR7</i> Gene in a 73-Year-Old Woman: Report of the Oldest Patient
Criterion: Q4 Article
Summary Info
Authors
YILMAZ MUSTAFA,BEBEK OGÜN,TÜRKYILMAZ AYBERK
Journal
Molecular Syndromology
Language
İngilizce
Scope
Uluslararası
Peer Review
Hakemli
DOI
10.1159/000536343
Scoring Breakdown
Base Score: 19.00
Base Score Breakdown
  • Diğer Makaleler 2.00
  • Q4 Makalesi 15.00
  • Özgün Makale 2.00
Total (Base) 19.00
Final Score: 22.99
Applied Multipliers
1. in author order (x1.00) Hakemli (x1.10) Uluslararası (x1.10)
Calculation
19.00 × 1.00 × 1.10 × 1.10 = 22.99
Calculated: 05.10.2026 02:04

Activity
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals
Criterion: Q3 Article
Summary Info
Authors
DEMİR OĞUZHAN,ADANUR SAĞLAM KÜBRA,YILMAZ MUSTAFA,APUHAN TUNA,ÇEBİ ALPER HAN,TÜRKYILMAZ AYBERK
Journal
American Journal of Medical Genetics Part A
Language
İngilizce
Scope
Uluslararası
Peer Review
Hakemli
DOI
10.1002/ajmg.a.63806
Scoring Breakdown
Base Score: 24.00
Base Score Breakdown
  • Diğer Makaleler 2.00
  • Q3 Makalesi 20.00
  • Özgün Makale 2.00
Total (Base) 24.00
Final Score: 20.33
Applied Multipliers
3. in author order (x0.70) Hakemli (x1.10) Uluslararası (x1.10)
Calculation
24.00 × 0.70 × 1.10 × 1.10 = 20.33
Calculated: 05.10.2026 02:04

Activity
A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3
Criterion: Other Articles
Summary Info
Authors
YILMAZ MUSTAFA
Journal
Clinical Genetics
Language
Türkçe
Scope
Uluslararası
Peer Review
Hakemli
DOI
10.1111/cge.14631
Scoring Breakdown
Base Score: 4.00
Base Score Breakdown
  • Diğer Makaleler 2.00
  • Özgün Makale 2.00
Total (Base) 4.00
Final Score: 4.84
Applied Multipliers
1. in author order (x1.00) Hakemli (x1.10) Uluslararası (x1.10)
Calculation
4.00 × 1.00 × 1.10 × 1.10 = 4.84
Calculated: 05.10.2026 02:04

Activity
Discovery of a Novel CUL3 Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish Patient
Criterion: Other Articles
Summary Info
Authors
YILMAZ MUSTAFA,TÜRKYILMAZ AYBERK
Journal
Molecular Syndromology
Language
Türkçe
Scope
Uluslararası
Peer Review
Hakemli
DOI
10.1159/000540923
Scoring Breakdown
Base Score: 4.00
Base Score Breakdown
  • Diğer Makaleler 2.00
  • Özgün Makale 2.00
Total (Base) 4.00
Final Score: 4.84
Applied Multipliers
1. in author order (x1.00) Hakemli (x1.10) Uluslararası (x1.10)
Calculation
4.00 × 1.00 × 1.10 × 1.10 = 4.84
Calculated: 05.10.2026 02:04

Activity
Actionable secondary findings in genes related to cancer phenotypes in 2020 whole exome sequenced Turkish participants
Criterion: Other Papers
Summary Info
Authors
YILMAZ MUSTAFA
Event
57th European Society of Human Genetics (ESHG) Conference, Berlin, Almanya, 1 - 04 Haziran 2024
Language
İngilizce
Scope
Uluslararası
Scoring Breakdown
Base Score: 3.00
Final Score: 3.63
Applied Multipliers
1. in author order (x1.00) İngilizce (x1.10) Uluslararası (x1.10)
Calculation
3.00 × 1.00 × 1.10 × 1.10 = 3.63
Calculated: 05.10.2026 02:04

Activity
Cerebrotendinous xanthomatosis: a treatable hereditary cholesterol metabolism disorder
Criterion: Other Papers
Summary Info
Authors
YILMAZ MUSTAFA
Event
57th European Society of Human Genetics (ESHG) Conference, Berlin, Almanya, 1 - 04 Haziran 2024
Language
İngilizce
Scope
Uluslararası
Scoring Breakdown
Base Score: 3.00
Final Score: 3.63
Applied Multipliers
1. in author order (x1.00) İngilizce (x1.10) Uluslararası (x1.10)
Calculation
3.00 × 1.00 × 1.10 × 1.10 = 3.63
Calculated: 05.10.2026 02:04