Louise Christie

发表

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

Fikret Erdogan, Reinhard Ullmann, Wei Chen, 2007, Human mutation.

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

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

E. Haan, F. McKenzie, G. Turner, 2014, Twin Research and Human Genetics.

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Q. Bui, S. Metcalfe, D. Francis, 2018, Genetics in Medicine.

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

N. Nowak, J. Conroy, G. Turner, 2009, BMJ Case Reports.

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

N. Nowak, J. Conroy, G. Turner, 2007, Journal of Medical Genetics.

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability

M. Shaw, J. Gécz, C. Schwartz, 2021, Human mutation.

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

K. Friend, J. Gécz, M. Stratton, 2015, Journal of Medical Genetics.

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

K. Friend, M. Shaw, J. Gécz, 2018, Human molecular genetics.

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

M. Shaw, E. Haan, J. Gécz, 2015, European journal of medical genetics.

Identical by descent L 1 CAM mutation in two apparently unrelated families with intellectual disability without L 1 syndrome

E. Haan, J. Gécz, M. Bahlo, 2015 .

Outcomes of a cystic fibrosis carrier testing clinic for couples

L. Christie, A. Ingrey, A. Proos, 2009, The Medical journal of Australia.

Maternal attitudes to newborn screening for fragile X syndrome

J. Boyle, M. Field, J. Hansen, 2013, American journal of medical genetics. Part A.

Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

J. Boyle, M. Field, B. Wilcken, 2018, International journal of neonatal screening.

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

K. Friend, I. Scheffer, M. Shaw, 2012, European Journal of Human Genetics.

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Q. Bui, S. Metcalfe, D. Francis, 2018, Genetics in Medicine.