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What does Australia’s investment in genomics mean for public health?

Australian and New Zealand journal of public health, 2019-06, Vol.43 (3), p.204-206

2019

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Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

American journal of human genetics, 2004-08, Vol.75 (2), p.318-324

2004

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Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Brain & development (Tokyo. 1979), 2002-08, Vol.24 (5), p.266

2002

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Börjeson-Forssman-Lehmann Syndrome Due to a Novel Plant Homeodomain Zinc Finger Mutation in the PHF6 Gene

Journal of child neurology, 2009-05, Vol.24 (5), p.610-614

2009

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Protecting trust in medical genetics in the new era of forensics

Genetics in medicine, 2019-07, Vol.21 (7), p.1483-1485

2019

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Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat

Cell, 1997-02, Vol.88 (3), p.367-374

1997

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Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

Nature communications, 2017-09, Vol.8 (1), p.611-7, Article 611

2017

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C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis

Neurobiology of aging, 2015-09, Vol.36 (9), p.2660.e1-2660.e8

2015

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XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

BMC medical genetics, 2005-04, Vol.6 (1), p.16-16, Article 16

2005

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A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1612-1616

2016

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Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Brain & development (Tokyo. 1979), 2002-08, Vol.24 (5), p.266-268

2002

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Common chromosomal fragile site FRA16D sequence : identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells

Human molecular genetics, 2000-07, Vol.9 (11), p.1651-1663

2000

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Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese

Genome medicine, 2017-11, Vol.9 (1), p.97-97, Article 97

2017

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Prävention von postoperativen Wundinfektionen durch die präoperative Haarentfernung bei erwachsenen Patienten im Akutkrankenhaus

Intensiv : Fachzeitschrift für Intensivpflege und Anästhesie, 2009-05, Vol.17 (3), p.141-148

2009

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Boerjeson-Forssman-Lehmann Syndrome Due to a Novel Plant Homeodomain Zinc Finger Mutation in the PHF6 Gene

Journal of child neurology, 2009-05, Vol.24 (5), p.610-614

2009

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Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

Molecular genetics & genomic medicine, 2017-07, Vol.5 (4), p.418-428

2017

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Chromosomal fragile site FRA16D and DNA instability in cancer

Cancer research (Chicago, Ill.), 2000-03, Vol.60 (6), p.1683-1689

2000

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Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

Genomics (San Diego, Calif.), 2004-07, Vol.84 (1), p.69-81

2004

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FRA10B Structure Reveals Common Elements in Repeat Expansion and Chromosomal Fragile Site Genesis

Molecular cell, 1998-05, Vol.1 (6), p.773-781

1998

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Molecular genetics of X-linked mental retardation: a complex picture emerging

Expert review of molecular diagnostics, 2001-07, Vol.1 (2), p.220-225

2001

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Genetic Heterogeneity in Familial Acute Myelogenous Leukemia: Evidence for a Second Locus at Chromosome 16q21-23.2

American journal of human genetics, 1997-10, Vol.61 (4), p.873-881

1997

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A High-Resolution Genetic Map of the Familial Mediterranean Fever Candidate Region Allows Identification of Haplotype-Sharing among Ethnic Groups

Genomics (San Diego, Calif.), 1997-09, Vol.44 (3), p.280-291

1997

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Scientific opinion on the tolerable upper intake level for iron

EFSA journal, 2024-06, Vol.22 (6), p.e8819-n/a

2024

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What does Australia’s investment in genomics mean for public health?

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Börjeson-Forssman-Lehmann Syndrome Due to a Novel Plant Homeodomain Zinc Finger Mutation in the PHF6 Gene

Protecting trust in medical genetics in the new era of forensics

Human Chromosomal Fragile Site FRA16B Is an Amplified AT-Rich Minisatellite Repeat

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Common chromosomal fragile site FRA16D sequence : identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese

Prävention von postoperativen Wundinfektionen durch die präoperative Haarentfernung bei erwachsenen Patienten im Akutkrankenhaus

Boerjeson-Forssman-Lehmann Syndrome Due to a Novel Plant Homeodomain Zinc Finger Mutation in the PHF6 Gene

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

Chromosomal fragile site FRA16D and DNA instability in cancer

Construction of a 1-Mb Restriction-Mapped Cosmid Contig Containing the Candidate Region for the Familial Mediterranean Fever Locus (MEFV) on Chromosome 16p13.3

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

FRA10B Structure Reveals Common Elements in Repeat Expansion and Chromosomal Fragile Site Genesis

Molecular genetics of X-linked mental retardation: a complex picture emerging

Genetic Heterogeneity in Familial Acute Myelogenous Leukemia: Evidence for a Second Locus at Chromosome 16q21-23.2

A High-Resolution Genetic Map of the Familial Mediterranean Fever Candidate Region Allows Identification of Haplotype-Sharing among Ethnic Groups

Scientific opinion on the tolerable upper intake level for iron

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