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Vona, B
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1

Biallelic KITLG variants lead to a distinct spectrum of hyp..:

Vona, B. ; Schwartzbaum, D.A. ; Rodriguez, A.A....
Journal of the European Academy of Dermatology and Venereology.  36 (2022)  9 - p. 1606-1611 , 2022
Link: https://doi.org/10.1111/..
 
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2

DFNB16 is a frequent cause of congenital hearing impairment..:

Vona, B. ; Hofrichter, M.A.H. ; Neuner, C....
Clinical Genetics.  87 (2014)  1 - p. 49-55 , 2014
Link: https://doi.org/10.1111/..
 
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3

Disruption of the ATE1 and SLC12A1 Genes by Balanced Transl..:

Vona, B. ; Neuner, C. ; El Hajj, N....
Molecular Syndromology.  5 (2013)  1 - p. 3-10 , 2013
Link: https://doi.org/10.1159/..
 
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4

Bi-allelic truncating variants in CASP2 underlie a neurodev..:

Uctepe, E ; Vona, B ; Esen, FN...
https://openaccess.sgul.ac.uk/id/eprint/115981/1/s41431-023-01461-2.pdf.  , 2024
Link: https://openaccess.sgul...
 
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5

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, R ; Rad, A ; Lin, S-J...
https://openaccess.sgul.ac.uk/id/eprint/115881/1/awad380.pdf.  , 2023
Link: https://openaccess.sgul...
 
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6

Structural and non-coding variants increase the diagnostic ..:

Pagnamenta, AT ; Camps, C ; Giacopuzzi, E...
https://discovery.ucl.ac.uk/id/eprint/10181812/1/s13073-023-01240-0.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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7

TMEM63C mutations cause mitochondrial morphology defects an..:

Tábara, LC ; Al-Salmi, F ; Maroofian, R...
https://openaccess.sgul.ac.uk/id/eprint/114580/1/awac123.pdf.  , 2022
Link: https://openaccess.sgul...
 
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8

Biallelic KITLG variants lead to a distinct spectrum of hyp..:

Vona, B ; Schwartzbaum, DA ; Rodriguez, AA...
https://openaccess.sgul.ac.uk/id/eprint/114574/1/Acad%20Dermatol%20Venereol%20-%202022%20-%20Vona%20-%20Biallelic%20KITLG%20variants%20lead%20to%20a%20distinct%20spectrum%20of%20hypomelanosis%20and.pdf.  , 2022
Link: https://openaccess.sgul...
 
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9

WARS1 and SARS1: two tRNA synthetases implicated in autosom..:

Bögershausen, N ; Krawczyk, H.E ; Jamra, R.A...
http://edoc.mdc-berlin.de/21764/1/21764oa.pdf.  , 2022
Link: http://edoc.mdc-berlin.d..
 
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10

Biallelic KITLG variants lead to a distinct spectrum of hyp..:

Vona, B ; Schwartzbaum, DA ; Rodriguez, AA...
https://discovery.ucl.ac.uk/id/eprint/10149850/1/Houlden_Biallelic%20KITLG%20variants%20lead%20to%20a%20distinct%20spectrum%20of%20hypomelanosis.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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11

Genome-wide association meta-analysis identifies 48 risk va..:

Trpchevska, N ; Freidin, MB ; Broer, L...
AMERICAN JOURNAL OF HUMAN GENETICS.  , 2022
Link: https://qmro.qmul.ac.uk/..
 
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12

Biallelic variants in WARS1 cause a highly variable neurode..:

Lin, S.J ; Vona, B ; Porter, H.M...
http://edoc.mdc-berlin.de/21788/1/21788oa.pdf.  , 2022
Link: http://edoc.mdc-berlin.d..
 
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13

TMEM63C mutations cause mitochondrial morphology defects an..:

Tábara, L. C ; Al-Salmi, F ; Maroofian, R...
https://academic.oup.com/brain/article-lookup/doi/10.1093/brain/awac123.  , 2022
Link: https://doi.org/10.1093/..
 
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14

Biallelic ADAM22 pathogenic variants cause progressive ence..:

van der Knoop, MM ; Maroofian, R ; Fukata, Y...
https://openaccess.sgul.ac.uk/id/eprint/114573/1/awac116.pdf.  , 2022
Link: https://openaccess.sgul...
 
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15

Unraveling the genetic complexities of combined retinal dys..:

Bahena, P ; Daftarian, N ; Maroofian, R...
https://openaccess.sgul.ac.uk/id/eprint/113394/1/Bahena2021_Article_UnravelingTheGeneticComplexiti.pdf.  , 2022
Link: https://openaccess.sgul...
 
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