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1. Full Text Osteopetrosis
by Stark, Zornitza and Savarirayan, Ravi
Orphanet journal of rare diseases, ISSN 1750-1172, 2009, Volume 4, Issue 1, pp. 5 - 5
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Bone Marrow Diseases - epidemiology | Osteoclasts - pathology | Osteopetrosis - pathology | Prevalence | Fractures, Spontaneous - epidemiology | Fractures, Spontaneous - genetics | Humans | Fractures, Spontaneous - therapy | Child, Preschool | Osteopetrosis - therapy | Bone Marrow Diseases - pathology | Genes, Recessive | Bone Marrow Diseases - genetics | Fractures, Spontaneous - pathology | Genes, Dominant | Bone Marrow Diseases - therapy | Osteopetrosis - epidemiology | Adult | Infant, Newborn | Osteopetrosis - genetics | Osteoporosis | Development and progression | Care and treatment | Prognosis | Diagnosis | Risk factors | Index Medicus
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2. Full Text Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
by Stark, Zornitza and Schofield, Deborah and Alam, Khurshid and Wilson, William and Mupfeki, Nessie and Macciocca, Ivan and Shrestha, Rupendra and White, Susan M and Gaff, Clara
Genetics in medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 867 - 874
Prospective | Genetic testing | Cost-effectiveness | Whole-exome sequencing | Mendelian disorders | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Insurance, Health, Reimbursement | Prospective Studies | Humans | Genetic Diseases, Inborn - genetics | Child, Preschool | Infant | Male | Diagnostic Tests, Routine - economics | Cost-Benefit Analysis | Female | Whole Genome Sequencing - economics | Early Diagnosis | Genetic Diseases, Inborn - diagnosis | Infant, Newborn | Cohort Studies | Cost analysis | Cost control | Index Medicus
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3. Full Text The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment
by Goranitis, Ilias and Best, Stephanie and Stark, Zornitza and Boughtwood, Tiffany and Christodoulou, John
Genetics in medicine, ISSN 1098-3600, 01/2021, Volume 23, Issue 1, pp. 155 - 162
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Preferences | Pediatrics | Neurological disorders | Index Medicus
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4. Full Text The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments
by Goranitis, Ilias and Best, Stephanie and Christodoulou, John and Stark, Zornitza and Boughtwood, Tiffany
Genetics in medicine, ISSN 1098-3600, 08/2020, Volume 22, Issue 8, pp. 1311 - 1319
genetic conditions | utility | preferences | next-generation sequencing | uptake | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pediatrics | Index Medicus
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5. Full Text Treatment limitation and advance planning: Hospital‐wide audit of paediatric death
by Audigé, Manon and Gillam, Lynn and Stark, Zornitza
Journal of paediatrics and child health, ISSN 1034-4810, 06/2020, Volume 56, Issue 6, pp. 893 - 899
paediatrics | treatment limitation | end‐of‐life care | advanced care planning | palliative care | documentation | Life Sciences & Biomedicine | Pediatrics | Science & Technology | Index Medicus
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6. Full Text ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome
by Miyatake, Satoko and Okamoto, Nobuhiko and Stark, Zornitza and Nabetani, Makoto and Tsurusaki, Yoshinori and Nakashima, Mitsuko and Miyake, Noriko and Mizuguchi, Takeshi and Ohtake, Akira and Saitsu, Hirotomo and Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 08/2017, Volume 62, Issue 8, pp. 741 - 746
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prognosis | Tooth Abnormalities - genetics | Face - abnormalities | Humans | Micrognathism - genetics | Child, Preschool | Repressor Proteins - genetics | Male | Bone Diseases, Developmental - genetics | Neck - abnormalities | Intellectual Disability - genetics | Genetic Variation | Phenotype | Hand Deformities, Congenital - genetics | Facies | Adult | Female | Child | Abnormalities, Multiple - genetics | Phenotypes | Transcription | Intellectual disabilities | Coffin-Siris syndrome | Epilepsy | Incisors | Infants | Differential diagnosis | Seizures | Index Medicus | Original
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7. Full Text A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
by Stark, Zornitza and Tan, Tiong Y and Chong, Belinda and Brett, Gemma R and Yap, Patrick and Walsh, Maie and Yeung, Alison and Peters, Heidi and Mordaunt, Dylan and Cowie, Shannon and Amor, David J and Savarirayan, Ravi and McGillivray, George and Downie, Lilian and Ekert, Paul G and Theda, Christiane and James, Paul A and Yaplito-Lee, Joy and Ryan, Monique M and Leventer, Richard J and Creed, Emma and Macciocca, Ivan and Bell, Katrina M and Oshlack, Alicia and Sadedin, Simon and Georgeson, Peter and Anderson, Charlotte and Thorne, Natalie and Gaff, Clara and White, Susan M and Melbourne Genomics Health Alliance
Genetics in medicine, ISSN 1098-3600, 11/2016, Volume 18, Issue 11, pp. 1090 - 1096
first tier | singleton WES | clinical utility | monogenic | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome - genetics | Humans | Genetic Diseases, Inborn - genetics | High-Throughput Nucleotide Sequencing - methods | Genetic Diseases, Inborn - diagnosis | Pathology, Molecular | Infant, Newborn | Index Medicus
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8. Full Text Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
by Stark, Zornitza and Schofield, Deborah and Martyn, Melissa and Rynehart, Luke and Shrestha, Rupendra and Alam, Khurshid and Lunke, Sebastian and Tan, Tiong Y and Gaff, Clara L and White, Susan M
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 173 - 180
cost-effectiveness; QALY; reanalysis; whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cost-Benefit Analysis - economics | Rare Diseases - genetics | Exome - genetics | Whole Exome Sequencing - economics | Genomics | Humans | Rare Diseases - diagnosis | Rare Diseases - economics | Rare Diseases - epidemiology | Infant | Genetic Testing - economics | Child | Medicine | Studies | Pediatrics | Congenital diseases | Laboratories | Intellectual disabilities | Families & family life | Genetics | Genomes | Cost analysis | Clinical outcomes | Index Medicus
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9. Full Text Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
by Dillon, Oliver James and Lunke, Sebastian and Stark, Zornitza and Yeung, Alison and Thorne, Natalie and Gaff, Clara and White, Susan M and Tan, Tiong Yang and Melbourne Genomics Hlth Alliance and Melbourne Genomics Health Alliance
European journal of human genetics : EJHG, ISSN 1018-4813, 05/2018, Volume 26, Issue 5, pp. 644 - 651
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Testing | Humans | Genetic Diseases, Inborn - genetics | Child, Preschool | Male | Genetic Diseases, Inborn - pathology | Sequence Analysis, DNA | Whole Exome Sequencing - methods | Exome - genetics | Phenotype | Adolescent | Female | Mutation | Child | Genetic Diseases, Inborn - diagnosis | Genotype & phenotype | Data processing | Phenotypes | Children | Recruitment | Index Medicus
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10. Full Text Drugs, genes and screens: The ethics of preventing and treating spinal muscular atrophy
by Gyngell, Christopher and Stark, Zornitza and Savulescu, Julian
Bioethics, ISSN 0269-9702, 06/2020, Volume 34, Issue 5, pp. 493 - 501
pre‐conception screening | spinal muscular atrophy | treatment versus prevention | disability screening | ethics | Ethics | Social Sciences | Social Sciences - Other Topics | Life Sciences & Biomedicine | Social Sciences, Biomedical | Medical Ethics | Biomedical Social Sciences | Social Issues | Science & Technology | Genes | Spinal muscular atrophy | In vitro fertilization | Diagnostic testing | Genomic analysis | Fertilization | Cure | Antenatal | Bioethics | Infants | Infant mortality | Medical diagnosis | Embryos | Genetic screening | Carriers | Disease prevention | Screening | Preimplantation genetic diagnosis | Ethical dilemmas | Autonomy | Diagnosis | Gene therapy | Index Medicus | Original
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11. Full Text Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes
by Schofield, Deborah and Rynehart, Luke and Shresthra, Rupendra and White, Susan M and Stark, Zornitza
Genetics in medicine, ISSN 1098-3600, 2019, Volume 21, Issue 11, pp. 2586 - 2593
QALY | cost-effectiveness | exome sequencing | ICER | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cost-Benefit Analysis - economics | Quality-Adjusted Life Years | Whole Exome Sequencing - economics | Humans | Rare Diseases - diagnosis | Rare Diseases - economics | Infant | Male | Cost-Benefit Analysis - methods | Exome - genetics | Computer Simulation | Female | Infant, Newborn | Cost analysis | Index Medicus
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12. Full Text Response to Ferket et al
by Schofield, Deborah and Rynehart, Luke and Shresthra, Rupendra and White, Susan M and Stark, Zornitza
Genetics in medicine, ISSN 1098-3600, 2020, Volume 22, Issue 11, pp. 1910 - 1910
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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13. Full Text Defects in tRNA Anticodon Loop 2′‐O‐Methylation Are Implicated in Nonsyndromic X‐Linked Intellectual Disability due to Mutations in FTSJ1
by Guy, Michael P and Shaw, Marie and Weiner, Catherine L and Hobson, Lynne and Stark, Zornitza and Rose, Katherine and Kalscheuer, Vera M and Gecz, Jozef and Phizicky, Eric M
Human mutation, ISSN 1059-7794, 12/2015, Volume 36, Issue 12, pp. 1176 - 1187
NSXLID | 2′‐O‐methylation | tRNA | FTSJ1 | intellectual disability | TRM7 | Intellectual disability | 2′-O-methylation | TRNA | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Saccharomyces cerevisiae - genetics | Humans | Methyltransferases - genetics | Male | Saccharomyces cerevisiae - metabolism | Mental Retardation, X-Linked - genetics | Codon | Mental Retardation, X-Linked - diagnosis | RNA, Transfer - genetics | Female | Nuclear Proteins - genetics | Nucleic Acid Conformation | RNA, Transfer - chemistry | Anticodon | RNA, Transfer, Phe - metabolism | Amino Acid Sequence | Cell Line | Methyltransferases - chemistry | Gene Expression | RNA, Transfer - metabolism | RNA, Transfer, Phe - genetics | Models, Molecular | Genotype | Nuclear Proteins - chemistry | Pedigree | Alleles | Protein Conformation | Mutation | Methylation | Amino Acid Substitution | Genetic disorders | Ribonucleic acid--RNA | Intellectual disabilities | Index Medicus
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