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List of works by Catherine Keegan

9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism

scientific article

A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures

scientific article published on July 2016

Additive effect of TAp63 deficiency on the adrenocortical dysplasia (acd) phenotype.

scientific article published on 22 October 2011

Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

scientific article published on 4 April 2018

Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation

scientific article published on 26 March 2013

Author Correction: Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation

scientific article published on 22 June 2020

CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype

scientific article published on 11 March 2016

Caudal regression in adrenocortical dysplasia (acd) mice is caused by telomere dysfunction with subsequent p53-dependent apoptosis

scientific article published on 3 August 2009

Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant

scientific article published on 25 January 2013

Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays

scientific article published on 15 July 2020

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

scientific article

Craniofacial dyssynostosis in two boys with apparently normal cognitive development

scientific article published in June 2006

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

scientific article published on 8 December 2015

Development of a decision support tool in pediatric Differences/Disorders of Sex Development

scientific article published on 13 September 2019

Disorders of sex development (DSD): Clinical service delivery in the United States.

scientific article published on 30 May 2017

Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics

scientific article published on 10 October 2018

Erratum: Corrigendum: Telomere protection by mammalian Pot1 requires interaction with Tpp1

scholarly article published in Nature Structural & Molecular Biology

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

scientific article

Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics

scientific article published on 21 June 2019

Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum

scientific article published on 01 December 2019

Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice

scientific article published on 01 March 2019

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing

scientific article published on 16 October 2019

Hematopoietic Defects In ACD/TPP1-Deficient Mice Reveal An Essential Role for the Shelterin Complex In Blood-Forming Stem Cell Homeostasis ⬇️

scholarly article

Hematopoietic stem cells are acutely sensitive to Acd shelterin gene inactivation

scientific article published on 09 December 2013

High-throughput gene expression analysis identifies p53-dependent and -independent pathways contributing to the adrenocortical dysplasia (acd) phenotype

scientific article published on 04 September 2018

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

scientific article

IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene

scientific article

Interstitial lung disease of infancy caused by a new NKX2-1 mutation.

scientific article published on 4 April 2017

Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management

scientific article published on 26 September 2015

MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature

scientific article

Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal

scientific article published on 01 March 2004

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

scientific article

Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation

scientific article published on 01 June 2020

Next-Generation Sequencing Identifies the Danforth's Short Tail Mouse Mutation as a Retrotransposon Insertion Affecting Ptf1a Expression ⬇️

scientific article published on February 21, 2013

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

scientific article published in August 2009

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

scientific article

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

scientific article

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

scientific article published on June 2016

Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency

scientific article published on 13 August 2016

Recent insights into organogenesis of the adrenal cortex

scientific article

Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome

scientific article published on November 2011

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

Telomere protection by TPP1 is mediated by POT1a and POT1b

scientific article

Telomere protection by mammalian Pot1 requires interaction with Tpp1

scientific article

The Lived Experience of MRKH: Sharing Health Information with Peers

scientific article published on 7 October 2015

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

article

The shelterin complex and hematopoiesis.

scientific article published on 2 May 2016

Tpp1/Acd maintains genomic stability through a complex role in telomere protection

scientific article

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency

scientific article

Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator

scientific article

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