Karen Jaqueline Low (Karen J Low, Karen Low)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 10

Top Topics

Intellectual Disability

Autism Spectrum Disorder

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Karen Jaqueline Low, Amy Watford, Peter Blair, Ian Nabney, John Powell, Sarah L Wynn, Julia Foreman, Helen Firth, Jenny Ingram
Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)-a study protocol. BMJ open 14 (5) (2024)
Karen Jaqueline Low, Amy Watford, Peter Blair, Ian Nabney, John Powell, Sarah L Wynn, Julia Foreman, Helen Firth, Jenny Ingram
Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)-a study protocol. BMJ open 14 (5) (2024)
Karen Jaqueline Low, Amy Watford, Peter Blair, Ian Nabney, John Powell, Sarah L Wynn, Julia Foreman, Helen Firth, Jenny Ingram
Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)-a study protocol. BMJ open 14 (5) (2024)
Karen Jaqueline Low, Amy Watford, Peter Blair, Ian Nabney, John Powell, Sarah L Wynn, Julia Foreman, Helen Firth, Jenny Ingram
Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)-a study protocol. BMJ open 14 (5) (2024)
Hannah Lee Grimes, M Ansari, Tazeen Ashraf, Anna Mª Cueto-González, A Calder, M Day, P Fernandez Alvarez, A Foster, N Lahiri, G M Repetto, I Scurr, V Varghese, Karen Jaqueline Low
PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants. American journal of medical genetics. Part A (2023)
Katharine Edgerley, Lisa Bryson, Lucy Hanington, Rachel Irving, Shelagh Joss, Anne Lampe, Isabelle Maystadt, Deborah Osio, Ruth Richardson, Miranda Split, Francis H Sansbury, Ingrid Scurr, Helen Stewart, Alisdair McNeill, Karen Jaqueline Low
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum. American journal of medical genetics. Part A (2023)
Jack J C Gibb, Elizabeth Wall, Ella Fields, Anna Seale, Catherine Armstrong, Andrew Bamber, Piers Daubeney, Makaela Jacobs-Pearson, Tamas Marton, Karen Stals, Karen Jaqueline Low, Juan Pablo Kaski, Georgia Spentzou
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects. Journal of medical genetics (2023)
Stephanie Oates, Michael Absoud, Sushma Goyal, Sophie Bayley, Jennifer Baulcomb, Annemarie Sims, Amy Riddett, Katrina Allis, Charlotte Brasch-Andersen, Meena Balasubramanian, Renkui Bai, Bert Callewaert, Ulrike Hüffmeier, Diana Le Duc, Maximilian Radtke, Christian M Korff, Joanna Kennedy, Karen Jaqueline Low, Rikke Steensjerre Moller, Jens Erik Klint Nielsen, Bernt Popp, Lina Quteineh, Gitte Rønde, Bitten Schönewolf-Greulich, Amelle Shillington, Matthew R G Taylor, Emily Todd, Pernille Mathiesen Torring, Zeynep Tümer, Georgia Vasileiou, T Michael Yates, Christiane Zweier, Richard E Rosch, M Albert Basson, Deb K Pal
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder. Clinical genetics 100 (4) (2021)
Deepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, Clare L Allen, David J Amor, Anna Ardissone, Siddharth Banka, Alexia Bourgois, Christine Coubes, Cheryl Cytrynbaum, Laurence Olivier-Faivre, Gerard Marion, Rachel Horton, Dieter Kotzot, Guillermo Lay-Son, Melissa Lees, Karen Jaqueline Low, Ho-Ming Luk, Paul Mark, Allyn McConkie-Rosell, Marie McDonald, John G Pappas, Christophe Phillipe, Deborah Shears, Brian Skotko, Fiona Stewart, Helen Stewart, I Karen Temple, Frederic T Mau-Them, Ricardo A Verdugo, Rosanna Weksberg, Yuri A Zarate, John M Graham, Katrina Tatton-Brown
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. American journal of medical genetics. Part A 179 (10) (2019)
Karen Jaqueline Low, Alison Hills, Maggie Williams, Celia Duff-Farrier, Shane McKee, Sarah F Smithson
A splice-site variant in ANKRD11 associated with classical KBG syndrome. American journal of medical genetics. Part A 173 (10) (2017)