List of works - Felicitas Lacbawan

A Case in Point: When Extended Genotyping of α-1 Antitrypsin (SERPINA1) is Indicated

scientific article published on 11 November 2014

A female infant with duplication of chromosome 2q33 to 2q37.3 ⬇️

scientific article published on October 1, 2003

A novel SIX3 mutation segregates with holoprosencephaly in a large family

scientific article

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.

scientific article published on 19 January 2007

Additional EFNB1 mutations in craniofrontonasal syndrome

scientific article

Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic

scientific article published on 29 October 2015

Association between conformational mutations in neuroserpin and onset and severity of dementia

scientific article (publication date: 29 June 2002)

Cleveland Clinic's Center for personalized healthcare: setting the stage for value-based care

scientific article

Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome

scientific article

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

scientific article

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

scientific article published on 22 January 2020

Effectiveness of Practices to Support Appropriate Laboratory Test Utilization: A Laboratory Medicine Best Practices Systematic Review and Meta-Analysis

scientific article

Familial dementia caused by polymerization of mutant neuroserpin

scientific article (publication date: 23 September 1999)

Familial encephalopathy with neuroserpin inclusion bodies

scientific article published on December 1999

Functional analysis of mutations in TGIF associated with holoprosencephaly

scientific article

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog ⬇️

scientific article published on July 1, 2012

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2

scientific article published on 17 March 2011

Identification of eight SARS-CoV-2 ORF7a deletion variants in 2,726 clinical specimens

scientific article

Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature ⬇️

scientific article published on 01 July 2003

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature

scientific article published in December 2007

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

scientific article published on 30 September 2005

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

scientific article published on 2 December 2009

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

scientific article

NOD2-associated autoinflammatory disease: a large cohort study

scientific article published on 11 June 2015

Pulmonary dysfunction in adults with nephropathic cystinosis

scientific article

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

scientific article published on 5 June 2008

Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome

scientific article published in July 2002

Severe hypodontia and oral xanthomas in Alagille syndrome

scientific article published on 01 July 2000

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype

scientific article published on January 2010

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

scientific article published on April 2009

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

scientific article published on October 2009

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach

scientific article published on 11 April 2017

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

scientific article published on 31 January 2009

Unique phenotype in a patient with CHARGE syndrome

scientific article published on 13 October 2011

List of works by Felicitas Lacbawan

A Case in Point: When Extended Genotyping of α-1 Antitrypsin (SERPINA1) is Indicated

A female infant with duplication of chromosome 2q33 to 2q37.3 ⬇️

A novel SIX3 mutation segregates with holoprosencephaly in a large family

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.

Additional EFNB1 mutations in craniofrontonasal syndrome

Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic

Association between conformational mutations in neuroserpin and onset and severity of dementia

Cleveland Clinic's Center for personalized healthcare: setting the stage for value-based care

Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Effectiveness of Practices to Support Appropriate Laboratory Test Utilization: A Laboratory Medicine Best Practices Systematic Review and Meta-Analysis

Familial dementia caused by polymerization of mutant neuroserpin

Familial encephalopathy with neuroserpin inclusion bodies

Functional analysis of mutations in TGIF associated with holoprosencephaly

Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog ⬇️

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2

Identification of eight SARS-CoV-2 ORF7a deletion variants in 2,726 clinical specimens

Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature ⬇️

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

NOD2-associated autoinflammatory disease: a large cohort study

Pulmonary dysfunction in adults with nephropathic cystinosis

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome

Severe hypodontia and oral xanthomas in Alagille syndrome

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

Unique phenotype in a patient with CHARGE syndrome