Claire G. Salter

发表

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

J. Chilton, R. Blakely, O. Abdul-Rahman, 2017, Brain : a journal of neurology.

MNS1 variant associated with situs inversus and male infertility

H. Cross, E. Baple, A. Crosby, 2019, European Journal of Human Genetics.

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Jacob O Day, R. Maroofian, H. Houlden, 2022, Brain : a journal of neurology.

A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

M. Patton, A. Cazenave-Gassiot, M. Wenk, 2017, Brain : a journal of neurology.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

E. Behr, H. Cross, M. Patton, 2017, PLoS genetics.

Biallelic PI4KA variants cause neurological, intestinal and immunological disease

P. De Camilli, H. Cross, Matteo P. Ferla, 2021, Brain : a journal of neurology.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.