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Guney Bademci

10PUBLICATIONS
65CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Microelectromechanical systems (MEMS)Autonomic nervous systemCell and nuclear division
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Journal

Publications (10)

Sort by Publication Date:
|Jan 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar

|Feb 14, 2024
Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.

Duygu Duman, Memoona Ramzan, Asli Subasioglu

|Feb 13, 2024
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.

Irman Forghani, Steven H Lang, Matthew J Rodier

|Aug 02, 2023
<i>VARS1</i> mutations associated with neurodevelopmental disorder are located on a short amino acid stretch of the anticodon-binding domain.

Semra Hiz, Seval Kiliç, Güney Bademci

|Jun 21, 2022
Mutations in <i>MINAR2</i> encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.

Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar

|May 11, 2022
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

B Vona, D A Schwartzbaum, A A Rodriguez

Pageof 2

Frequent Collaborators

9 joint publications

Mustafa Tekin

4 joint publications

Duygu Duman

1 joint publications

K T Booth

1 joint publications

K Kahrizi

1 joint publications

M Babanejad

1 joint publications

A El-Amraoui

1 joint publications

H Najmabadi

1 joint publications

H Azaiez

1 joint publications

R J Smith

1 joint publications

B Vona

Frequent Collaborators

9 joint publications

Mustafa Tekin

4 joint publications

Duygu Duman

1 joint publications

K T Booth

1 joint publications

K Kahrizi

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