List of works - Thomas A Maher

A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations

scientific article

A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?

scientific article published in January 2018

A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome

scientific article published on 11 March 2008

Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens

article

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication

scientific article published on February 2010

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

scientific article published in The Journal of the American Medical Association

Connexin-26 gene analysis in hearing-impaired newborns

scientific article published in January 2000

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome

scientific article

Fertility in Men With Cystic Fibrosis

scientific article

Fragile X carrier screening and spinocerebellar ataxia in older males

scientific article published on 01 March 2004

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism

scientific article published on 07 July 2011

Gene sequencing in neonates and infants with the long QT syndrome.

scientific article published in January 2005

LADD syndrome is caused by FGF10 mutations

scientific article

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

scientific article published in January 2003

Mutation analysis in Rett syndrome

scientific article published on January 2001

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma

scientific article

Pallister-Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome

scientific article published on 25 September 2007

Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes

scientific article published on 01 March 1991

Prenatal molecular diagnosis of tuberous sclerosis complex

scientific article published in March 2009

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

scientific article

The value of MLPA in Waardenburg syndrome

scientific article published in January 2007

XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease

scientific article published in July 2003

List of works by Thomas A Maher

A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations

A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?

A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome

Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

Connexin-26 gene analysis in hearing-impaired newborns

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome

Fertility in Men With Cystic Fibrosis

Fragile X carrier screening and spinocerebellar ataxia in older males

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism

Gene sequencing in neonates and infants with the long QT syndrome.

LADD syndrome is caused by FGF10 mutations

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

Mutation analysis in Rett syndrome

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma

Pallister-Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome

Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes

Prenatal molecular diagnosis of tuberous sclerosis complex

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

The value of MLPA in Waardenburg syndrome

XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease