Zornitza Stark
Zornitza Stark
Victorian Clinical Genetics Services; Australian Genomics
Verified email at vcgs.org.au
Title
Cited by
Cited by
Year
Osteopetrosis
Z Stark, R Savarirayan
Orphanet journal of rare diseases 4 (1), 5, 2009
4322009
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ...
Genetics in Medicine 18 (11), 1090-1096, 2016
233*2016
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
V Laugel, C Dalloz, M Durand, F Sauvanaud, U Kristensen, MC Vincent, ...
Human mutation 31 (2), 113-126, 2010
1782010
Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions
TY Tan, OJ Dillon, Z Stark, D Schofield, K Alam, R Shrestha, B Chong, ...
JAMA pediatrics 171 (9), 855-862, 2017
1622017
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
MM Clark, Z Stark, L Farnaes, TY Tan, SM White, D Dimmock, ...
NPJ genomic medicine 3 (1), 1-10, 2018
1502018
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
Z Stark, D Schofield, K Alam, W Wilson, N Mupfeki, I Macciocca, ...
Genetics in Medicine 19 (8), 867-874, 2017
1292017
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked …
FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ...
Human molecular genetics 23 (11), 2888-2900, 2014
1252014
Integrating genomics into healthcare: a global responsibility
Z Stark, L Dolman, TA Manolio, B Ozenberger, SL Hill, MJ Caulfied, ...
The American Journal of Human Genetics 104 (1), 13-20, 2019
962019
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
BT Wilson, Z Stark, RE Sutton, S Danda, AV Ekbote, SM Elsayed, ...
Genetics in medicine 18 (5), 483-493, 2016
922016
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
F Béna, DL Bruno, M Eriksson, C van Ravenswaaij‐Arts, Z Stark, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013
912013
Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1
MP Guy, M Shaw, CL Weiner, L Hobson, Z Stark, K Rose, VM Kalscheuer, ...
Human mutation 36 (12), 1176-1187, 2015
872015
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy
K Tuz, R Bachmann-Gagescu, DR O’Day, K Hua, CR Isabella, IG Phelps, ...
The American Journal of Human Genetics 94 (1), 62-72, 2014
852014
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
Z Stark, S Lunke, GR Brett, NB Tan, R Stapleton, S Kumble, A Yeung, ...
Genetics in Medicine 20 (12), 1554-1563, 2018
652018
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
DL Bruno, SM White, D Ganesamoorthy, T Burgess, K Butler, S Corrie, ...
Journal of medical genetics 48 (12), 831-839, 2011
632011
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
Z Stark, D Schofield, M Martyn, L Rynehart, R Shrestha, K Alam, S Lunke, ...
Genetics in Medicine 21 (1), 173-180, 2019
602019
Cpipe: a shared variant detection pipeline designed for diagnostic settings
SP Sadedin, H Dashnow, PA James, M Bahlo, DC Bauer, A Lonie, ...
Genome medicine 7 (1), 1-10, 2015
592015
Phenotypic variability of distal 22q11. 2 copy number abnormalities
TY Tan, A Collins, PA James, G McGillivray, Z Stark, CT Gordon, ...
American Journal of Medical Genetics Part A 155 (7), 1623-1633, 2011
562011
De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations
MRF Reijnders, V Zachariadis, B Latour, L Jolly, GM Mancini, R Pfundt, ...
The American Journal of Human Genetics 98 (2), 373-381, 2016
552016
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high‐resolution SNP microarrays
DL Bruno, Z Stark, DJ Amor, T Burgess, K Butler, S Corrie, D Francis, ...
Human mutation 32 (12), 1500-1506, 2011
452011
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ...
The American Journal of Human Genetics 101 (6), 1021-1033, 2017
442017
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