J. McDonald

发表

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

P. Bayrak-Toydemir, D. Stevenson, K. Whitehead, 2015, Front. Genet..

Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation

D. Crockett, P. Bayrak-Toydemir, J. McDonald, 2010 .

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

D. Bonneau, J. McDonald, M. Letarte, 2003, Journal of medical genetics.

International Guidelines for the Diagnosis and Telangiectasia Management of Hereditary Hemorrhagic

A. Guttmacher, D. Ross, J. Piccirillo, 2022 .

Genotype–Phenotype Correlations in Children with HHT

G. Latino, M. Lawton, F. Ratjen, 2020, Journal of clinical medicine.

Hereditary hemorrhagic telangiectasia.

P. Bayrak-Toydemir, J. McDonald, 2014, Haematologica.

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis

P. Bayrak-Toydemir, J. McDonald, W. Wooderchak, 2011, Clinical genetics.

Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis

R. Pyeritz, P. Bayrak-Toydemir, J. McDonald, 2011, Genetics in Medicine.

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

E. Lyon, A. Phansalkar, P. Bayrak-Toydemir, 2007, The Journal of molecular diagnostics : JMD.

Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred.

S. Hallam, K. Ward, D. Marchuk, 2000, American journal of medical genetics.

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review

N. Lindor, I. Winship, J. Weitzel, 2014, Genetics in Medicine.

Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia

S. Coughlin, A. Hata, P. Bayrak-Toydemir, 2018, Science Signaling.

Predictors of mortality in patients with hereditary hemorrhagic telangiectasia

A. J. White, Andrew J. White, L. Pawlikowska, 2021, Orphanet Journal of Rare Diseases.

Pulmonary Arteriovenous Malformations: What the Interventional Radiologist Should Know.

K. Whitehead, J. McDonald, C. Kaufman, 2022, Seminars in interventional radiology.

The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses.

K. Ward, R. Mao, J. McDonald, 2005, Genetic testing.

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

P. Bayrak-Toydemir, C. Vaughn, J. McDonald, 2011, Journal of Medical Genetics.

Tissue‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families

P. Bayrak-Toydemir, J. McDonald, Whitney L Wooderchak-Donahue, 2018, American journal of medical genetics. Part A.

Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia

Min S. Park, P. Taussky, Ilyas M. Eli, 2018, Journal of Clinical Neuroscience.

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

A. Berenstein, P. Bayrak-Toydemir, A. Lin, 2018, European Journal of Human Genetics.

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

P. Bayrak-Toydemir, D. Stevenson, J. McDonald, 2012, European journal of medical genetics.

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

E. Lyon, A. Phansalkar, P. Bayrak-Toydemir, 2008, Experimental and molecular pathology.

Pathogenic variants that alter protein code often disrupt splicing

Kamil J. Cygan, W. Fairbrother, P. Bayrak-Toydemir, 2017, Nature Genetics.

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

Brendan D. O'Fallon, P. Bayrak-Toydemir, N. Morrell, 2013, American journal of human genetics.

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Brendan D. O'Fallon, G. Marth, A. Farrell, 2019, Genetics in Medicine.

Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.

P. Bayrak-Toydemir, J. McDonald, M. Fox, 2009, The Journal of molecular diagnostics : JMD.

Hereditary hemorrhagic telangiectasia: An overview of diagnosis and management in the molecular era for clinicians

P. Bayrak-Toydemir, R. Mao, J. McDonald, 2004, Genetics in Medicine.

Genetic testing for a BRCA1 mutation: Prophylactic surgery and screening behavior in women 2 years post testing

R. Croyle, E. Lyon, J. Botkin, 2003, American journal of medical genetics. Part A.

Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia

Gabor T. Marth, G. Marth, A. Farrell, 2018, Journal of Medical Genetics.

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

P. Bayrak-Toydemir, R. Mao, F. Calderon, 2006, American journal of medical genetics. Part A.

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

A. Guttmacher, D. Ross, J. Piccirillo, 2009, Journal of Medical Genetics.

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

K. Heimdal, M. Mei-Zahav, J. Piccirillo, 2020, Annals of Internal Medicine.

Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations *

P. Bayrak-Toydemir, R. Mao, H. Coon, 2006, American journal of medical genetics. Part A.

Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome).

P. Barnes, L. Hudgins, R. Mao, 2002, Pediatrics.

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

P. Bayrak-Toydemir, D. Stevenson, F. Blanco, 2011, Orphanet journal of rare diseases.

Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

P. Bayrak-Toydemir, J. McDonald, M. Letarte, 2020, Journal of clinical medicine.

A theory for polymicrogyria and brain arteriovenous malformations in HHT

T. Krings, F. Ratjen, J. McDonald, 2019, Neurology.

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

J. Bentham, P. Bayrak-Toydemir, N. Morrell, 2021, Molecular genetics & genomic medicine.

Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review

N. Lindor, I. Winship, Marissa S. Ellingson, 2014, Genetics in Medicine.

Clinical presentation and treatment paradigms in patients with hereditary hemorrhagic telangiectasia and spinal vascular malformations

Min S. Park, P. Taussky, Ilyas M. Eli, 2018, Journal of Clinical Neuroscience.

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

P. Bayrak-Toydemir, K. Whitehead, J. McDonald, 2020, Genetics in Medicine.

Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT

G. Latino, L. Pawlikowska, M. Lawton, 2023, Journal of clinical medicine.

Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia

M. Lawton, T. Krings, S. Hetts, 2021, Orphanet Journal of Rare Diseases.

Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia

Robert I. White, C. McCulloch, L. Pawlikowska, 2015, Stroke.

The effects of nasal closure on quality of life in patients with hereditary hemorrhagic telangiectasia

K. Whitehead, J. McDonald, Bryan R. McRae, 2018, Laryngoscope investigative otolaryngology.

Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia

A. Presson, D. Stevenson, K. Whitehead, 2018, The Laryngoscope.

An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2

K. Whitehead, J. McDonald, Kevin F. Wilson, 2016, The Laryngoscope.

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

A. Berenstein, P. Bayrak-Toydemir, A. Lin, 2018, European Journal of Human Genetics.

Exploring Genetic Counseling Communication Patterns: The Role of Teaching and Counseling Approaches

R. Croyle, D. Roter, V. Venne, 2006, Journal of Genetic Counseling.

Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

P. Bayrak-Toydemir, M. Chesnutt, J. McDonald, 2019, Journal of Human Genetics.

Quantification metrics for telangiectasia using optical coherence tomography

A. J. White, L. Pawlikowska, M. Lawton, 2022, Scientific Reports.

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.

R. Bollo, D. Stevenson, M. Walker, 2012, Journal of neurosurgery. Pediatrics.

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

P. Bayrak-Toydemir, J. McDonald, J. Runo, 2011, Journal of Medical Genetics.

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.

R. Bollo, D. Stevenson, M. Walker, 2012, Journal of neurosurgery. Pediatrics.

Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia

C. McCulloch, L. Pawlikowska, M. Lawton, 2015, Stroke.

Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: a qualitative analysis

L. A. Higa, J. McDonald, E. Rothwell, 2015, Journal of Community Genetics.

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Brendan D. O'Fallon, Gabor T. Marth, M. Hannibal, 2019, Genetics in Medicine.

BRCA1 Testing: Genetic Counseling Protocol Development and Counseling Issues

Jeffrey R. Botkin, Robert T. Croyle, J. E. Nash, 1997, Journal of Genetic Counseling.