Mark Greenslade

Genetic heterogeneity of motor neuropathies

Boglárka Bánsági, Helen Griffin, Roger G. Whittaker et al. · Neurology · 2017 · 100 citations · Full text

Medicine, Genetics, Neurology +16

BRAF Fusion Analysis in Pilocytic Astrocytomas: KIAA1549-BRAF 15-9 Fusions Are More Frequent in the Midline Than Within the Cerebellum

Claire Faulkner, Hayley Ellis, Abigail Shaw et al. · Journal of Neuropathology & Experimental Neurology · 2015 · 74 citations · Full text

Medicine, Molecular Genetics, Oncology +17

Warsaw Breakage Syndrome – A further report, emphasising cutaneous findings

Claire Bailey, Alan Fryer, Mark Greenslade · European Journal of Medical Genetics · 2015 · 57 citations

Medicine, Dermatology, Pathology +8

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Karen Low, Morad Ansari, Rami Abou Jamra et al. · European Journal of Human Genetics · 2017 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotype

Ange‐Line Bruel, Stefania Bigoni, Joanna Kennedy et al. · Journal of Medical Genetics · 2017 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13