A. Sreekantan-Nair

发表

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

M. Weedon, M. Patton, A. Cazenave-Gassiot, 2015, Nature Genetics.

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

M. Hurles, H. Cross, R. Maroofian, 2013, Brain : a journal of neurology.

Hypomorphic PCNA mutation underlies a novel human DNA repair disorder

Ogi, H. Cross, M. Patton, 2014 .

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

H. Cross, M. Patton, A. Taylor, 2014, The Journal of clinical investigation.

Copy number variation of LINGO1 in familial dystonic tremor

J. Chilton, T. Iype, E. Louis, 2019, Neurology: Genetics.

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia

M. Simpson, M. Patton, R. Trembath, 2016, Human mutation.

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations

M. Patton, T. Iype, Royana Singh, 2015, BMC Medical Genetics.

SLITRK6 mutations cause myopia and deafness in humans and mice.

Juan I. Young, M. Tekin, A. Pandya, 2013, The Journal of clinical investigation.

SLITRK 6 mutations cause myopia and deafness in humans and mice

Juan I. Young, M. Tekin, A. Pandya, 2013 .

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

S. Mansour, E. Baple, G. Harlalka, 2014, The Journal of clinical investigation.