Juliet Taylor

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

Danielle C. Lynch, Timothée Revil, Jeremy Schwartzentruber et al. · Nature Communications · 2014 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

Nithya Selvan, Stephan George, Fatema Serajee et al. · Journal of Biological Chemistry · 2018 · 77 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

Elise Boudry‐Labis, Bénédicte Demeer, Cédric Le Caignec et al. · European Journal of Medical Genetics · 2012 · 73 citations

Medicine, Genetics, Molecular Genetics +17

Significant Benefits of <i>AIP</i> Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Pedro Marques, Francisca Caimari, Laura C. Hernández‐Ramírez et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 70 citations · Full text

Medicine, Endocrinology, Oncology +17

<i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Irina Zaharieva, Anna Sárközy, Pinki Munot et al. · Human Mutation · 2018 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14