Lista de obras -

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

artículo científico publicado en 2014

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

artículo científico publicado el 1 de octubre de 2003

A novel SIX3 mutation segregates with holoprosencephaly in a large family.

artículo científico publicado en 2009

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.

artículo científico publicado en 2007

Additional EFNB1 mutations in craniofrontonasal syndrome.

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado en 2014

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

artículo científico publicado en 2000

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

artículo científico publicado en 2009

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.

artículo científico publicado en 2018

Familial dementia caused by polymerization of mutant neuroserpin

artículo científico publicado en 1999

Familial encephalopathy with neuroserpin inclusion bodies

artículo científico publicado en 1999

Functional analysis of mutations in TGIF associated with holoprosencephaly

artículo científico publicado en 2006

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

artículo científico publicado en 2012

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

artículo científico publicado el 1 de julio de 2003

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

NOD2-associated autoinflammatory disease: a large cohort study

artículo científico publicado en 2015

Pulmonary dysfunction in adults with nephropathic cystinosis

artículo científico publicado en 2001

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

artículo científico publicado en 2008

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

artículo científico publicado en 2002

Severe hypodontia and oral xanthomas in Alagille syndrome

artículo científico publicado en 2000

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Unique phenotype in a patient with CHARGE syndrome

artículo científico publicado en 2011

Lista de obras de

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 in Sonic 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