List of works - Katherine L Lachlan

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

scientific article published on July 2016

A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions

scientific article published on 08 November 2005

A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility

scientific article published on 24 October 2011

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

scientific journal article

Amniotic bands in paternal half-siblings.

scientific article

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)

scientific article published on 24 December 2008

Changes over time in sex assignment for disorders of sex development.

scientific article published on 4 August 2014

Clinical and genetic aspects of KBG syndrome.

scientific article

Clinical and radiographic delineation of odontochondrodysplasia

scientific article published in 2008

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome

scientific article published on 01 October 2004

Contribution of retrotransposition to developmental disorders

scientific article published on 11 October 2019

Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes.

scientific article

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

scientific article published on 7 June 2011

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

scientific article published on 15 June 2015

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

scientific article published on 01 April 2019

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

scientific article published in August 2016

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

scientific article published on 20 December 2018

Functional disomy resulting from duplications of distal Xq in four unrelated patients.

scientific article published on 24 August 2004

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

article

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

scientific article

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

scientific article published on 24 August 2013

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

scientific article published on 2 February 2010

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings

scientific article published on 01 January 2006

Homozygous mutation in ELMO2 may cause Ramon syndrome.

scientific article published on 2 November 2017

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

scientific article published on 01 December 2017

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

scientific article published on 11 June 2015

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

article

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

scientific article published on 18 September 2012

Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs

scientific article published on 11 April 2019

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

scientific article published on 20 July 2012

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

scientific article published on 20 February 2018

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism

scientific article published on 16 November 2012

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

scientific article published on 14 October 2019

PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

scientific article

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

scientific article published on 13 January 2019

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

scientific article

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 07 August 2019

List of works by Katherine L Lachlan

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions

A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

Amniotic bands in paternal half-siblings.

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)

Changes over time in sex assignment for disorders of sex development.

Clinical and genetic aspects of KBG syndrome.

Clinical and radiographic delineation of odontochondrodysplasia

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome

Contribution of retrotransposition to developmental disorders

Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Functional disomy resulting from duplications of distal Xq in four unrelated patients.

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings

Homozygous mutation in ELMO2 may cause Ramon syndrome.

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis