List of works - Fulya Taylan

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

scientific article published on 18 November 2020

A novel frameshift deletion in PLS3 causing severe primary osteoporosis

scientific article published on 08 June 2018

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

scientific article

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

scientific article published on 01 April 2022

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes

scientific article published on 21 November 2016

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.

scientific article published on 23 March 2018

CRTAP variants in early-onset osteoporosis and recurrent fractures

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

scientific article published in November 2017

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

scientific article published on 7 November 2013

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

scientific article published on 09 May 2019

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

scientific article published on 25 February 2019

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

scientific article published on 12 March 2018

Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis.

scientific article published on 10 March 2017

Meiotic recombinations within major histocompatibility complex of human embryos

article published in 2012

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

scientific article published on 10 February 2015

Mutations in influenza A virus (H5N1) and possible limited spread, Turkey, 2006.

scientific article published in March 2008

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

scientific article published on 14 November 2017

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

scientific article published on 22 October 2019

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

scientific article published on 4 August 2017

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

scientific article

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

scientific article published on 27 September 2016

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

scientific article published on 01 September 2019

Pulmonary alveolar microlithiasis with homozygous c.316G > C (p.G106R) mutation: a case report

scientific article published in January 2012

Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility

scientific article

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

scientific article

The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.

scientific article published on 31 August 2016

Two novel mutations in XYLT2 cause spondyloocular syndrome.

scientific article published on 8 September 2017

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis

scientific article published on 26 March 2015

List of works by Fulya Taylan

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

A novel frameshift deletion in PLS3 causing severe primary osteoporosis

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.

CRTAP variants in early-onset osteoporosis and recurrent fractures

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis.

Meiotic recombinations within major histocompatibility complex of human embryos

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

Mutations in influenza A virus (H5N1) and possible limited spread, Turkey, 2006.

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

Pulmonary alveolar microlithiasis with homozygous c.316G > C (p.G106R) mutation: a case report

Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.

Two novel mutations in XYLT2 cause spondyloocular syndrome.

Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis