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Author Details

Asl??han Tolun
Istanbul Technical University
1974
91
28
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36917474A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.Brain2023
37780999Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.Yale J Biol Med2023
37780997A Recurrent Mutation in Growth Hormone Receptor (<i>GHR</i>) Gene Underlying Laron-type Dwarfism in a Pakistani Family.Yale J Biol Med2023
37780995Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.Yale J Biol Med2023
34569147A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.Am J Med Genet A2022
35676340KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.Eur J Hum Genet2022
35089071A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.Genet Test Mol Biomarkers2022
34904718Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.EMBO J2022
32778762Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.J Hum Genet2021
33647455CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.Eur J Med Genet2021
33709629The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.Am J Med Genet A2021
32325225Novel EDAR mutation in tooth agenesis and variable associated features.Eur J Med Genet2020
32737394Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.J Hum Genet2020
30474613A Novel <i>ATP6V0A2</i> Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound HealingTurk J Haematol2019
31353455FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.Clin Genet2019
29127258Homozygous mutation in <i>CEP19,</i> a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.J Med Genet2018
30058754STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.Hum Mutat2018
29364501WNT10B mutations associated with isolated dental anomalies.Clin Genet2018
29581481Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.Eur J Hum Genet2018
29717096<i>LACC1</i> Gene Defects in Familial Form of Juvenile Arthritis.J Rheumatol2018
29514872Homozygous <i>CHST11</i> mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.J Med Genet2018
28051070Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.Eur J Hum Genet2017
28315472Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.Eur J Med Genet2017
29148404Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF.Clin Exp Rheumatol2017
28636205Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.Am J Med Genet A2017
26812546Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.Elife2016
27440146Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.Neurology2016
27281533TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Neurology2016
27105143A role of autophagy in spinocerebellar ataxia-Rare exception or general principle?Autophagy2016
24533558A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.Mod Rheumatol2015
26333564RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.Am J Med Genet A2015
26349189DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA.Genet Couns2015
25988751Large-scale recent expansion of European patrilineages shown by population resequencing.Nat Commun2015
25666907Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.Neuromuscul Disord2015
25502551Is the novel SCKL3 at 14q23 the predominant Seckel locus?Eur J Hum Genet2015
25468874The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.Mol Biol Evol2015
23860042A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family.Eur J Hum Genet2014
24945461Novel recessive cone-rod dystrophy caused by POC1B mutation.JAMA Ophthalmol2014
24433453Adult phenotype and further phenotypic variability in SRD5A3-CDG.BMC Med Genet2014
24431330Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.J Med Genet2014
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
23343562TBC1D24 truncating mutation resulting in severe neurodegeneration.J Med Genet2013
23749988Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.J Med Genet2013
23211418DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.Parkinsonism Relat Disord2013
22018912A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.Parkinsonism Relat Disord2012
22526350Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.Neurogenetics2012
21204221The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.Am J Med Genet A2011
21330303A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.Hum Mol Genet2011
20375726Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence.Clin Dysmorphol2010
21087195Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3.J Neurogenet2010
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Collaborators

Co-authored papers 6
Kocaeli University Faculty of Medicine
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Istanbul University-Cerrahpasa
Co-authored papers 2
University of Helsinki
Co-authored papers 2
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School of Pharmacy and Biomolecular Sciences, Ireland FutureNeuro SFI Research Centre
Co-authored papers 2
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Istanbul University
Co-authored papers 2
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Wellcome Sanger Institute
Co-authored papers 2
ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University
Co-authored papers 1
University of Leicester
Co-authored papers 1
Blood Borne Infections Research Center, Academic Center for Education
Co-authored papers 1
Scripps Research Translational Institute
Co-authored papers 1
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 1
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
Co-authored papers 1
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Broad Institute of MIT and Harvard
Co-authored papers 1
University of Manchester
Co-authored papers 1
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Howard Hughes Medical Institute, University of California
Co-authored papers 1
King AbdulAziz University
Co-authored papers 1
Medical School and Pharmacy, University Mohammed V in Rabat
Co-authored papers 1
Center for Brain Development, University of California
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Cairo University
Co-authored papers 1
Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS
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University of Oslo
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