C
Carolyn Shalhoub
Researcher at Boston Children's Hospital
Publications - 7
Citations - 307
Carolyn Shalhoub is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Massive parallel sequencing & Newborn screening. The author has an hindex of 4, co-authored 6 publications receiving 224 citations.
Papers
More filters
Journal ArticleDOI
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Stefanie Eggers,Simon Sadedin,Jocelyn van den Bergen,Gorjana Robevska,Thomas Ohnesorg,Jacqueline K. Hewitt,Jacqueline K. Hewitt,Luke S. Lambeth,Aurore Bouty,Ingrid M. Knarston,Tiong Yang Tan,Fergus J. Cameron,George A. Werther,John M. Hutson,Michele A O'Connell,Sonia Grover,Sonia Grover,Yves Heloury,Margaret Zacharin,Philip Bergman,Philip Bergman,Chris Kimber,Justin C. Brown,Justin C. Brown,Nathalie Webb,Matthew F. Hunter,Shubha Srinivasan,Angela Titmuss,Charles F. Verge,Charles F. Verge,David Mowat,Grahame H.H. Smith,Grahame H.H. Smith,Janine Smith,Lisa Ewans,Lisa Ewans,Carolyn Shalhoub,Patricia Crock,Christopher T. Cowell,Gary M. Leong,Makato Ono,Antony R Lafferty,Tony Huynh,Uma Visser,Catherine S. Choong,Catherine S. Choong,Fiona Haslam McKenzie,Fiona Haslam McKenzie,Nicholas Pachter,Nicholas Pachter,Elizabeth Thompson,Elizabeth Thompson,Jennifer J Couper,Anne Baxendale,Jozef Gecz,Benjamin J Wheeler,Craig Jefferies,Karen E MacKenzie,Paul L. Hofman,Philippa Carter,Richard I. King,Csilla Krausz,Conny M. A. van Ravenswaaij-Arts,Leendert H. J. Looijenga,Sten L. S. Drop,Stefan Riedl,Stefan Riedl,Martine Cools,A. J. Dawson,Achmad Zulfa Juniarto,Vaman Khadilkar,Anuradha Khadilkar,Vijayalakshmi Bhatia,Vũ Chí Dũng,Irum Atta,Jamal Raza,Nguyen Thi Diem Chi,Tran Kiem Hao,Vincent R. Harley,Peter Koopman,Garry L. Warne,Garry L. Warne,Sultana M.H. Faradz,Alicia Oshlack,Katie L. Ayers,Andrew H. Sinclair +85 more
TL;DR: A massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously and expands the understanding of the underlying genetic etiology of DSD.
Journal ArticleDOI
Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era
Michael J. Coffey,Viola Whitaker,Natalie Gentin,Natalie Gentin,Rosie Junek,Carolyn Shalhoub,Scott Nightingale,Scott Nightingale,Jodi Hilton,Jodi Hilton,Veronica Wiley,Veronica Wiley,Bridget Wilcken,Bridget Wilcken,Kevin J. Gaskin,Kevin J. Gaskin,Chee Y. Ooi,Chee Y. Ooi +17 more
TL;DR: In this article, the authors evaluated children with CF who had a late diagnosis of CF despite newborn screening and compared their clinical outcomes with children diagnosed after a positive NBS (NBS-CF).
Journal ArticleDOI
De novo interstitial duplication 4(q28.1q35) associated with choanal atresia.
S. Lin,Edwin P. Kirk,Edwin P. Kirk,Fiona Haslam McKenzie,Fiona Haslam McKenzie,C. Francis,Carolyn Shalhoub,Anne M. Turner,Anne M. Turner +8 more
TL;DR: A case of direct interstitial duplication of chromosome 4 from 4q28.1 to 4q35 associated with bilateral choanal atresia associated with trisomy 4q involving this region is reported.
Journal ArticleDOI
Professional regulation for Australasian genetic counselors.
Cass Hoskins,Clara Gaff,Alison McEwen,Ivan Macciocca,Amy Pearn,Carolyn Shalhoub,Hayley Salvemini,Jennifer Berkman,Kate E. Riley,Rachel Williams,Michael Milward,Mary-Anne Young,Mary-Anne Young +12 more
TL;DR: The intention is to provide a framework to support genetic counseling colleagues internationally as well as other health professions in Australasia to explore and achieve regulation through their respective jurisdiction.
Additional file 2: Figure S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Stefanie Eggers,Simon Sadedin,Jocelyn van den Bergen,Gorjana Robevska,Thomas Ohnesorg,Jacqueline K. Hewitt,Luke S. Lambeth,Aurore Bouty,Ingrid M. Knarston,Tiong Yang Tan,Fergus J. Cameron,George A. Werther,John M. Hutson,Michele OâConnell,Sonia Grover,Yves Heloury,Margaret Zacharin,Philip Bergman,Chris Kimber,Justin C. Brown,Nathalie Webb,Matthew F. Hunter,Shubha Srinivasan,Angela Titmuss,Charles F. Verge,David Mowat,Grahame H.H. Smith,Janine Smith,Lisa Ewans,Carolyn Shalhoub,Patricia Crock,Christopher T. Cowell,Gary M. Leong,Makato Ono,Antony R Lafferty,Tony Huynh,Uma Visser,Catherine S. Choong,Fiona Haslam McKenzie,Nicholas Pachter,Elizabeth Thompson,Jennifer J Couper,Anne Baxendale,Jozef Gecz,Benjamin J Wheeler,Craig Jefferies,Karen E MacKenzie,Paul L. Hofman,Philippa Carter,Richard I. King,Csilla Krausz,Conny M. A. van Ravenswaaij-Arts,Leendert H. J. Looijenga,Sten L. S. Drop,Stefan Riedl,Martine Cools,A. J. Dawson,Achmad Zulfa Juniarto,Vaman Khadilkar,Anuradha Khadilkar,Vijayalakshmi Bhatia,Vĺš DĹŠng,Irum Atta,Jamal Raza,Nguyen Thi Diem Chi,Tran Kiem Hao,Vincent R. Harley,Peter Koopman,Garry L. Warne,Sultana M.H. Faradz,Alicia Oshlack,Katie L. Ayers,Andrew H. Sinclair +72 more
TL;DR: In the cohort from Asia, 35% of the patients were found to have a diagnostic variant (pathogenic or likely pathogenic), while this was 44% for Europe and 45% for AUS/NZL, and all curated variants are shown.