Skip to contents Firth, Helen V. [Author]; Hurst, Jane A. [Author] Oxford desk reference : clinical genetics and genomics - [Second edition] Books Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. New York, NY: Oxford University Press, [2017] Published in: Oxford medical publications ; Oxford desk reference FitzPatrick, David R.; Firth, Helen V. Genomically Aided Diagnosis of Severe Developmental Disorders Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Annual Reviews, 2020 Published in: Annual Review of Genomics and Human Genetics, 21 (2020) 1, Seite 327-349 FIRTH, HELEN V; WRIGHT, CAROLINE F The Deciphering Developmental Disorders (DDD) study Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2011 Published in: Developmental Medicine & Child Neurology, 53 (2011) 8, Seite 702-703 Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen V. Erratum: Paediatric genomics: diagnosing rare disease in children Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2018 Published in: Nature Reviews Genetics, 19 (2018) 5, Seite 325-325 Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen V. Paediatric genomics: diagnosing rare disease in children Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2018 Published in: Nature Reviews Genetics, 19 (2018) 5, Seite 253-268 Wright, Caroline F.; Hurles, Matthew E.; Firth, Helen V. Principle of proportionality in genomic data sharing Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2016 Published in: Nature Reviews Genetics, 17 (2016) 1, Seite 1-2 Hurst, Jane; Firth, Helen V.; Chitty, Lyn S. Syndromic associations with congenital anomalies of the fetal thorax and abdomen Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2008 Published in: Prenatal Diagnosis, 28 (2008) 7, Seite 676-684 Pajkrt, Eva; Weisz, Boaz; Firth, Helen V.; Chitty, Lyn S. Fetal cardiac anomalies and genetic syndromes Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2004 Published in: Prenatal Diagnosis, 24 (2004) 13, Seite 1104-1115 Foreman, Julia; Perrett, Daniel; Mazaika, Erica; Hunt, Sarah E.; Ware, James S.; Firth, Helen V. DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Annual Reviews, 2023 Published in: Annual Review of Genomics and Human Genetics, 24 (2023) 1, Seite 151-176 Ruth Y. Eberhardt; Caroline F. Wright; David R. FitzPatrick; Matthew E. Hurles; Helen V. Firth Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. 2023 Published in: Genetics in Medicine Open, 1 (2023) 1 Wright, Caroline F.; FitzPatrick, David R.; Ware, James S.; Rehm, Heidi L.; Firth, Helen V. Importance of adopting standardized MANE transcripts in clinical reporting Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2023 Published in: Genetics in Medicine, 25 (2023) 2, Seite 100331 Josephs, Katherine S; Berner, Alison; George, Angela; Scott, Richard H; Firth, Helen V; Tatton-Brown, Katrina Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2019 Published in: Clinical Medicine, 19 (2019) 4, Seite 269-272 Fairclough, Helen E.; Gilbert, Matthew; Pichugin, Aleksey V.; Tyas, Andy; Firth, Ian Theoretically optimal forms for very long-span bridges under gravity loading Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. The Royal Society, 2018 Published in: Proceedings of the Royal Society A: Mathematical, Physical and Engineering Sciences, 474 (2018) 2217, Seite 20170726 Corpas, Manuel; Bragin, Eugene; Clayton, Stephen; Bevan, Paul; Firth, Helen V. Interpretation of Genomic Copy Number Variants Using DECIPHER Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2012 Published in: Current Protocols in Human Genetics, 72 (2012) 1 Park, Soo‐Mi; Hall, Christine M.; Gray, Roger; Firth, Helen V. Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2007 Published in: American Journal of Medical Genetics Part A, 143A (2007) 17, Seite 2024-2028 Holden, Simon; Ahuja, Sapna; Ogilvy‐Stuart, Amanda; Firth, Helen V.; Lees, Christoph Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three‐dimensional ultrasound Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2007 Published in: Prenatal Diagnosis, 27 (2007) 6, Seite 566-567 Santarius, Thomas; Dakoji, Srikanth; Afshari, Fardad T.; Raymond, Frances L.; Firth, Helen V.; Fernandes, Helen M.; Garnett, Matthew R. Isolated hypoglossal schwannoma in a 9-year-old child : Case report : Case report Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Journal of Neurosurgery Publishing Group (JNSPG), 2012 Published in: Journal of Neurosurgery: Pediatrics, 10 (2012) 2, Seite 130-133 Goriely, Anne; Lord, Helen; Lim, Jasmine; Johnson, David; Lester, Tracy; Firth, Helen V.; Wilkie, Andrew O.M. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age‐effect” syndromes Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2010 Published in: American Journal of Medical Genetics Part A, 152A (2010) 8, Seite 2067-2073 Horton, Rachel; Wright, Caroline F; Firth, Helen V; Turnbull, Clare; Lachmann, Robin; Houlston, Richard S; Lucassen, Anneke Challenges of using whole genome sequencing in population newborn screening Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. BMJ, 2024 Published in: BMJ (2024), Seite e077060 Aitken, Stuart; Firth, Helen V.; Wright, Caroline F.; Hurles, Matthew E.; FitzPatrick, David R.; Semple, Colin A. IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2023 Published in: Human Genetics and Genomics Advances, 4 (2023) 1, Seite 100162
Firth, Helen V. [Author]; Hurst, Jane A. [Author] Oxford desk reference : clinical genetics and genomics - [Second edition] Books Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. New York, NY: Oxford University Press, [2017] Published in: Oxford medical publications ; Oxford desk reference
FitzPatrick, David R.; Firth, Helen V. Genomically Aided Diagnosis of Severe Developmental Disorders Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Annual Reviews, 2020 Published in: Annual Review of Genomics and Human Genetics, 21 (2020) 1, Seite 327-349
FIRTH, HELEN V; WRIGHT, CAROLINE F The Deciphering Developmental Disorders (DDD) study Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2011 Published in: Developmental Medicine & Child Neurology, 53 (2011) 8, Seite 702-703
Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen V. Erratum: Paediatric genomics: diagnosing rare disease in children Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2018 Published in: Nature Reviews Genetics, 19 (2018) 5, Seite 325-325
Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen V. Paediatric genomics: diagnosing rare disease in children Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2018 Published in: Nature Reviews Genetics, 19 (2018) 5, Seite 253-268
Wright, Caroline F.; Hurles, Matthew E.; Firth, Helen V. Principle of proportionality in genomic data sharing Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Springer Science and Business Media LLC, 2016 Published in: Nature Reviews Genetics, 17 (2016) 1, Seite 1-2
Hurst, Jane; Firth, Helen V.; Chitty, Lyn S. Syndromic associations with congenital anomalies of the fetal thorax and abdomen Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2008 Published in: Prenatal Diagnosis, 28 (2008) 7, Seite 676-684
Pajkrt, Eva; Weisz, Boaz; Firth, Helen V.; Chitty, Lyn S. Fetal cardiac anomalies and genetic syndromes Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2004 Published in: Prenatal Diagnosis, 24 (2004) 13, Seite 1104-1115
Foreman, Julia; Perrett, Daniel; Mazaika, Erica; Hunt, Sarah E.; Ware, James S.; Firth, Helen V. DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Annual Reviews, 2023 Published in: Annual Review of Genomics and Human Genetics, 24 (2023) 1, Seite 151-176
Ruth Y. Eberhardt; Caroline F. Wright; David R. FitzPatrick; Matthew E. Hurles; Helen V. Firth Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. 2023 Published in: Genetics in Medicine Open, 1 (2023) 1
Wright, Caroline F.; FitzPatrick, David R.; Ware, James S.; Rehm, Heidi L.; Firth, Helen V. Importance of adopting standardized MANE transcripts in clinical reporting Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2023 Published in: Genetics in Medicine, 25 (2023) 2, Seite 100331
Josephs, Katherine S; Berner, Alison; George, Angela; Scott, Richard H; Firth, Helen V; Tatton-Brown, Katrina Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2019 Published in: Clinical Medicine, 19 (2019) 4, Seite 269-272
Fairclough, Helen E.; Gilbert, Matthew; Pichugin, Aleksey V.; Tyas, Andy; Firth, Ian Theoretically optimal forms for very long-span bridges under gravity loading Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. The Royal Society, 2018 Published in: Proceedings of the Royal Society A: Mathematical, Physical and Engineering Sciences, 474 (2018) 2217, Seite 20170726
Corpas, Manuel; Bragin, Eugene; Clayton, Stephen; Bevan, Paul; Firth, Helen V. Interpretation of Genomic Copy Number Variants Using DECIPHER Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2012 Published in: Current Protocols in Human Genetics, 72 (2012) 1
Park, Soo‐Mi; Hall, Christine M.; Gray, Roger; Firth, Helen V. Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2007 Published in: American Journal of Medical Genetics Part A, 143A (2007) 17, Seite 2024-2028
Holden, Simon; Ahuja, Sapna; Ogilvy‐Stuart, Amanda; Firth, Helen V.; Lees, Christoph Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three‐dimensional ultrasound Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2007 Published in: Prenatal Diagnosis, 27 (2007) 6, Seite 566-567
Santarius, Thomas; Dakoji, Srikanth; Afshari, Fardad T.; Raymond, Frances L.; Firth, Helen V.; Fernandes, Helen M.; Garnett, Matthew R. Isolated hypoglossal schwannoma in a 9-year-old child : Case report : Case report Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Journal of Neurosurgery Publishing Group (JNSPG), 2012 Published in: Journal of Neurosurgery: Pediatrics, 10 (2012) 2, Seite 130-133
Goriely, Anne; Lord, Helen; Lim, Jasmine; Johnson, David; Lester, Tracy; Firth, Helen V.; Wilkie, Andrew O.M. Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age‐effect” syndromes Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Wiley, 2010 Published in: American Journal of Medical Genetics Part A, 152A (2010) 8, Seite 2067-2073
Horton, Rachel; Wright, Caroline F; Firth, Helen V; Turnbull, Clare; Lachmann, Robin; Houlston, Richard S; Lucassen, Anneke Challenges of using whole genome sequencing in population newborn screening Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. BMJ, 2024 Published in: BMJ (2024), Seite e077060
Aitken, Stuart; Firth, Helen V.; Wright, Caroline F.; Hurles, Matthew E.; FitzPatrick, David R.; Semple, Colin A. IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders Articles View online Schließen > Access Close > Bookmarks You can manage bookmarks using lists, please log in to your user account for this. Elsevier BV, 2023 Published in: Human Genetics and Genomics Advances, 4 (2023) 1, Seite 100162
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