H. Aydin

发表

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.

E. M. DeGennaro, J. Lupski, K. Im, 2022, Developmental cell.

Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort

U. Aydin, G. Celik, H. Aydin, 2016, Ophthalmic genetics.

Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report

H. Cetiner, G. Mutlu, H. Aydin, 2015, Journal of Pediatric Endocrinology & Metabolism (JPEM).

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

J. Lupski, R. Gibbs, E. Boerwinkle, 2016, The Journal of clinical investigation.

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia

J. Lupski, R. Gibbs, D. Muzny, 2014, European Journal of Human Genetics.

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

J. Lupski, R. Gibbs, E. Boerwinkle, 2015, The Journal of clinical investigation.

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

W. Chung, J. Lupski, R. Gibbs, 2015, Neuron.

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

J. Lupski, R. Gibbs, D. Muzny, 2021, American journal of human genetics.

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

Priya S. Shah, Benjamin R. Arenkiel, J. Lupski, 2019, Developmental cell.

Ankle2, A Target of Zika Virus, Controls Asymmetric Cell Division of Neuroblasts and Uncovers a Novel Microcephaly Pathway

Benjamin R. Arenkiel, J. Lupski, N. Krogan, 2019, bioRxiv.

Global transcriptional disturbances underlie

Khalid Al Rubeaan, J. Lupski, R. Gibbs, 2018 .

A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.

N. Koç, G. Ceylaner, O. Demirci, 2016, European journal of medical genetics.

A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve–Melchior–Clausen syndrome

A. Gezdirici, M. Seven, H. Ulucan, 2014, Clinical dysmorphology.

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

D. Mitter, C. Evers, S. Nampoothiri, 2016, Genetics in Medicine.

Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency.

G. Yeşil, C. Sayar, G. Toksoy, 2014, European journal of obstetrics, gynecology, and reproductive biology.

Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI

J. Lupski, R. Gibbs, S. Jhangiani, 2015, American journal of medical genetics. Part A.

Prenatal diagnosis and outcome of lymphangiomas and its relationship with fetal chromosomal abnormalities

P. Kumru, O. Pekin, E. Erdogdu, 2016, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

The deletion 22q13 syndrome: a new case.

B. Geckinli, H. Aydin, A. Karaman, 2015, Genetic counseling.

DNA damage is increased in lymphocytes of patients with metabolic syndrome.

B. Geckinli, A. Cetinkaya, H. Aydin, 2015, Mutation research. Genetic toxicology and environmental mutagenesis.

Osteogenesis imperfecta associated with partial trisomy 20 p : Case report

B. Geckinli, T. Tos, H. Aydin, 2014 .

Unusual presentation of fetus in fetu in triplet pregnancy mimicking abdominal wall defect

P. Kumru, O. Pekin, E. Erdogdu, 2015 .

Tetrasomy 12p presenting with long appendix: a prenatal case.

O. Pekin, E. Erdogdu, R. Arısoy, 2013, Genetic counseling.

A rare case of rhombencephalosynapsis and prenatal diagnosis

O. Pekin, E. Erdogdu, R. Arısoy, 2016, Journal of Obstetrics and Gynaecology Research.