Prof. Dr. Yasemin Alanay

New genotype-phenotype correlations and management recommendations for individuals with RERE variants

Genetics in Medicine, 2026

DOI 10.1016/j.gim.2026.102580 PMID 41988794 1 Zitation (Europe PMC) Quelle: OpenAlex

Periodic Genetic Reanalysis Identifies a Novel De Novo NOTCH1 Variant: A Case Report

Journal of Child Neurology, 2026

DOI 10.1177/08830738261422860 PMID 41834381 Quelle: OpenAlex

Pilot study: the impact of simulation-based pediatric basic life support training on the performance of caregivers of children with Rett syndrome

BMC Medical Education, 2026

DOI 10.1186/s12909-026-09158-y PMID 41963928 Frei zugänglicher VolltextQuelle: OpenAlex

Undiagnosed Diseases Program-Istanbul (UDP-IST): Diagnostic Impact of Systematic Genomic Reanalysis with Deep Phenotyping in 121 Patients

Research Square, 2026

DOI 10.21203/rs.3.rs-8842818/v1 Frei zugänglicher VolltextQuelle: OpenAlex

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Genome Medicine, 2026

DOI 10.1186/s13073-026-01667-1 PMID 42116163 Frei zugänglicher VolltextQuelle: OpenAlex

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Open Access CRIS of the University of Bern, 2026

DOI 10.48620/97667 Quelle: OpenAlex

Additional file 1 of Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders

Figshare, 2026

DOI 10.6084/m9.figshare.32904645 Quelle: OpenAlex

Perineal dysmorphism and patellar luxation in SLC35A2-CDG: a new piece in the glycosylation puzzle

The Turkish Journal of Pediatrics, 2026

DOI 10.24953/turkjpediatr.2026.8349 Quelle: OpenAlex

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder

Molecular Psychiatry, 2026

DOI 10.1038/s41380-026-03877-w PMID 41415500 Quelle: OpenAlex

Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype–phenotype spectrum

European Journal of Pediatrics, 2026

DOI 10.1007/s00431-026-06974-8 PMID 42068419 Frei zugänglicher VolltextQuelle: OpenAlex

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Genome Medicine, 2026

DOI 10.1186/s13073-026-01745-4 PMID 42638108 Frei zugänglicher VolltextQuelle: OpenAlex

Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2 -related disorders

Brain, 2026

DOI 10.1093/brain/awag249 PMID 42496149 Quelle: OpenAlex

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients

Clinical Genetics, 2026

DOI 10.1111/cge.70225 PMID 42618064 Quelle: OpenAlex

Additional file 2 of The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Figshare, 2026

DOI 10.6084/m9.figshare.33326035 Quelle: OpenAlex

Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience

Frontiers in Pediatrics, 2025

DOI 10.3389/fped.2025.1471965 PMID 40083435 2 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia

International Journal of Molecular Sciences, 2025

DOI 10.3390/ijms26188838 PMID 41009407 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Abstract Wed103: A Novel Variant in GNB2 as a Cause of Sick Sinus Syndrome

Circulation Research, 2025

DOI 10.1161/res.137.suppl_1.wed103 Quelle: OpenAlex

Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 ‐Related Rothmund–Thomson Syndrome

American Journal of Medical Genetics Part A, 2025

DOI 10.1002/ajmg.a.64179 PMID 40693833 1 Zitation (Europe PMC) Quelle: OpenAlex

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

Frontiers in Public Health, 2025

DOI 10.3389/fpubh.2025.1510818 PMID 40078755 4 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females

Turkish Archives of Pediatrics, 2025

DOI 10.5152/turkarchpediatr.2025.24336 PMID 40094327 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2025

DOI 10.26650/iuitfd.1597597 Quelle: OpenAlex

Expanding the Phenotypic Spectrum of ERLIN1 ‐Related SPG62 : Report of Two Siblings With Behavioral Features and Hyperacusis

Clinical Genetics, 2025

DOI 10.1111/cge.70006 PMID 41251124 Quelle: OpenAlex

Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey

Frontiers in Pediatrics, 2024

DOI 10.3389/fped.2024.1412880 PMID 39026936 8 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Frontiers in Genetics, 2024

DOI 10.3389/fgene.2024.1347474 PMID 38560291 7 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Nature Genetics, 2024

DOI 10.1038/s41588-024-01941-1 PMID 39433890 6 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

A New Era in Missense Variant Analysis: Statistical Insights and the Introduction of VAMPP-Score for Pathogenicity Assessment

bioRxiv (Cold Spring Harbor Laboratory), 2024

DOI 10.1101/2024.07.11.602867 Frei zugänglicher VolltextQuelle: OpenAlex

ITGB4-Related pyloric atresia without epidermolysis in two siblings

European Journal of Medical Genetics, 2024

DOI 10.1016/j.ejmg.2024.104971 PMID 39322060 Quelle: OpenAlex

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

Human Genetics and Genomics Advances, 2024

DOI 10.1016/j.xhgg.2024.100380 PMID 39501558 4 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study*

Genetics in Medicine Open, 2024

DOI 10.1016/j.gimo.2024.101036 Quelle: OpenAlex

P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life*

Genetics in Medicine Open, 2024

DOI 10.1016/j.gimo.2024.101038 Quelle: OpenAlex

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

Genes, 2023

DOI 10.3390/genes14061179 PMID 37372360 12 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Frontiers in Public Health, 2023

DOI 10.3389/fpubh.2022.1049349 PMID 36684907 8 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant

European Journal of Human Genetics, 2023

DOI 10.1038/s41431-023-01472-z PMID 37789084 4 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

A new line method; A direct test in spinal muscular atrophy screening for DBS

Molecular Genetics & Genomic Medicine, 2023

DOI 10.1002/mgg3.2270 PMID 37614112 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International

Frontiers in Public Health, 2023

DOI 10.3389/fpubh.2023.1079601 PMID 36935719 13 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators

Frontiers in Public Health, 2023

DOI 10.3389/fpubh.2023.1248260 PMID 37822540 13 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Real-world evidence in achondroplasia: considerations for a standardized data set

Orphanet Journal of Rare Diseases, 2023

DOI 10.1186/s13023-023-02755-w PMID 37365619 7 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review

American Journal of Medical Genetics Part A, 2023

DOI 10.1002/ajmg.a.63207 PMID 37053206 8 Zitationen (Europe PMC) Quelle: OpenAlex

DNAJC21‐related thrombocytopenia in a young adult female

American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2023

DOI 10.1002/ajmg.c.32043 PMID 37186482 3 Zitationen (Europe PMC) Quelle: OpenAlex

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients

European Journal of Medical Genetics, 2023

DOI 10.1016/j.ejmg.2023.104708 PMID 36720430 Quelle: OpenAlex

P193: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: Update from phase 3 extension study*

Genetics in Medicine Open, 2023

DOI 10.1016/j.gimo.2023.100222 Quelle: OpenAlex

A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES Syndrome

Clinical Cosmetic and Investigational Dermatology, 2022

DOI 10.2147/ccid.s351637 PMID 35444443 6 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Clinical Utility of Molecular Autopsy in Fetal and Pediatric Patients with Suspected Genetic Disorders

Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi, 2022

DOI 10.37989/gumussagbil.1078850 Quelle: OpenAlex

Defining mitochondrial protein functions through deep multiomic profiling

Nature, 2022

DOI 10.1038/s41586-022-04765-3 PMID 35614220 118 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study

Genetics in Medicine, 2022

DOI 10.1016/j.gim.2022.08.015 PMID 36107167 25 Zitationen (Europe PMC) Quelle: OpenAlex

Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Scandinavian Journal of Immunology, 2021

DOI 10.1111/sji.13130 PMID 34951041 6 Zitationen (Europe PMC) Quelle: OpenAlex

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

Genetics in Medicine, 2021

DOI 10.1038/s41436-021-01287-7 PMID 34341520 77 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Spondyloepimetaphyseal dysplasia EXTL3‐deficient type: Long‐term follow‐up and review of the literature

American Journal of Medical Genetics Part A, 2021

DOI 10.1002/ajmg.a.62378 PMID 34089299 8 Zitationen (Europe PMC) Quelle: OpenAlex

Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

BMC Medical Genomics, 2021

DOI 10.1186/s12920-021-01045-3 PMID 34332575 5 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

The Cleft Palate-Craniofacial Journal, 2021

DOI 10.1177/10556656211038115 PMID 34410171 5 Zitationen (Europe PMC) Quelle: OpenAlex