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Josifova, Dragana
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1

De novo monoallelic Reelin missense variants act in a domin..:

Riva, Martina ; Ferreira, Sofia ; Hayashi, Kotaro...
Journal of Clinical Investigation.  , 2024
Link: https://doi.org/10.1172/..
 
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2

Unusual OCT findings in a patient with CABP4-associated con..:

Tan, Jit Kai ; Arno, Gavin ; Josifova, Dragana..
Documenta Ophthalmologica.  148 (2024)  2 - p. 115-120 , 2024
Link: https://doi.org/10.1007/..
 
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3

Combining a prioritization strategy and functional studies ..:

Dueñas Rey, Alfredo ; del Pozo Valero, Marta ; Bouckaert, Manon...
Genome Medicine.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

Biallelic CRELD1 variants cause a multisystem syndrome, inc..:

Jeffries, Lauren ; Mis, Emily K. ; McWalter, Kirsty...
Genetics in Medicine.  26 (2024)  2 - p. 101023 , 2024
Link: https://doi.org/10.1016/..
 
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5

Use of genome sequencing to hunt for cryptic second-hit var..:

Moore, A Rachel ; Yu, Jing ; Pei, Yang...
Journal of Medical Genetics.  60 (2023)  12 - p. 1235-1244 , 2023
Link: https://doi.org/10.1136/..
 
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6

Genome sequencing and comprehensive rare-variant analysis o..:

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1343-1355 , 2023
Link: https://doi.org/10.1016/..
 
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7

Novel phosphopantothenoylcysteine synthetase (PPCS) mutatio..:

Lok, Aishin ; Fernandez‐Garcia, Miguel A. ; Taylor, Robert W....
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2783-2789 , 2022
Link: https://doi.org/10.1002/..
 
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8

Use of whole genome sequencing to determine genetic basis o..:

Schon, Katherine R ; Horvath, Rita ; Wei, Wei...
BMJ.  , 2021
Link: https://doi.org/10.1136/..
 
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9

Recurrent heterozygous PAX6 missense variants cause severe ..:

Williamson, Kathleen A. ; Hall, H. Nikki ; Owen, Liusaidh J....
Genetics in Medicine.  22 (2020)  3 - p. 598-609 , 2020
Link: https://doi.org/10.1038/..
 
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10

PIGT-CDG, a disorder of the glycosylphosphatidylinositol an..:

Bayat, Allan ; Knaus, Alexej ; Juul, Annika Wollenberg...
Genetics in Medicine.  21 (2019)  10 - p. 2216-2223 , 2019
Link: https://doi.org/10.1038/..
 
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11

The CHD8 overgrowth syndrome: A detailed evaluation of an e..:

Ostrowski, Philip J. ; Zachariou, Anna ; Loveday, Chey...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  181 (2019)  4 - p. 557-564 , 2019
Link: https://doi.org/10.1002/..
 
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12

Cantu syndrome–associated SUR2 (ABCC9) mutations in distinc..:

McClenaghan, Conor ; Hanson, Alex ; Sala-Rabanal, Monica...
Journal of Biological Chemistry.  293 (2018)  6 - p. 2041-2052 , 2018
Link: https://doi.org/10.1074/..
 
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13

Genetics of gynaecological disorders:

Josifova, Dragana J.
Best Practice & Research Clinical Obstetrics & Gynaecology.  42 (2017)  - p. 100-113 , 2017
Link: https://doi.org/10.1016/..
 
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14

Inherited 2q23.1 microdeletions involving the MBD5 locus:

Tadros, Shereen ; Wang, Rubin ; Waters, Jonathan J....
Molecular Genetics & Genomic Medicine.  5 (2017)  5 - p. 608-613 , 2017
Link: https://doi.org/10.1002/..
 
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15

Protein structure and phenotypic analysis of pathogenic and..:

Suri, Mohnish ; Evers, Jochem M. G. ; Laskowski, Roman A....
Molecular Genetics & Genomic Medicine.  5 (2017)  5 - p. 495-507 , 2017
Link: https://doi.org/10.1002/..
 
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