Concepedia

Louise Christie

LC

Statistics

Publications

11

Citations

890

H-Index

11

Active since

2007

Affiliations

Hunter Genetics(Current)

The University of Adelaide

South Australia Pathology

Children's Hospital at Westmead

Women's and Children's Hospital

Louise Christie is an author at Hunter Genetics specializing in human genetics, genetics, and life sciences.

ORCID

Publications per year

2007–2018

11

Publications

11

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 309 citations · Full text

, , +17

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Reinhard Ullmann, Gillian Turner, Maria Kirchhoff et al. · Human Mutation · 2007 · 288 citations

, , +17

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Michael Field, Ingrid E. Scheffer, Deepak Gill et al. · European Journal of Human Genetics · 2012 · 64 citations · Full text

, , +12

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Mark Corbett, Tracy Dudding‐Byth, Patricia Crock et al. · Journal of Medical Genetics · 2015 · 60 citations

, , +17

A recurrent missense variant in <i>SLC9A7</i> causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

Wujood Khayat, Anna Hackett, Marie Shaw et al. · Human Molecular Genetics · 2018 · 37 citations · Full text

, , +16

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