D. Macaya

发表

Symptom based representation for dynamic systems diagnosis . Application to Electrical Power Distribution

J. Meléndez, D. Macaya, J. Colomer, 2004 .

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

Michael J Ackerman, Joshua C Denny, Dan M Roden, 2016, JAMA.

High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance

Jens Meiler, Carlos G. Vanoye, Reshma R. Desai, 2018, Circulation. Genomic and precision medicine.

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.

A. Moser, G. Raymond, D. Macaya, 2009, Molecular genetics and metabolism.

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

D. Judge, P. Handford, D. Macaya, 2010, Science Translational Medicine.

The incidence of duplicate genetic testing

D. Macaya, L. Boardman, T. Hefferon, 2008, Genetics in Medicine.

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy

Matthew S. Lebo, W. Chung, M. Wheeler, 2020, Human mutation.

Postmortem Genetic Testing Is an Increasingly Utilized Tool in Death Investigation

D. Macaya, Lisa M. Dellefave‐Castillo, H. MacLeod, 2022, Academic forensic pathology.

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

Matthew S. Lebo, J. Ware, D. Macaya, 2021, The Journal of molecular diagnostics : JMD.

Early somatic mosaicism is a rare cause of long-QT syndrome

Euan A Ashley, Thomas O'Hara, Charles Gawad, 2016, Proceedings of the National Academy of Sciences.

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Birgit Funke, Eden Haverfield, Ana Morales, 2018, Genetics in Medicine.

Adaptation and validation of the ACMG / AMP variant classification framework for MYH 7-associated inherited cardiomyopathies

Birgit Funke, Eden Haverfield, Ana Morales, 2018 .

High Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance

Alfred L. George, Carlos G. Vanoye, Reshma R. Desai, 2017, bioRxiv.

A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis‐splicing of a constitutive exon

D. Macaya, G. Cutting, T. Hefferon, 2009, American Journal of Medical Genetics. Part A.

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Leah M. Williams, W. Chung, S. Bale, 2011, Genetic testing and molecular biomarkers.

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).

Joshua L. Deignan, D. Macaya, H. Reddi, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Case based reasoning methodology for supervision

Joaquim Melendez, Joan Colomer, Daniel Macaya, 2001, 2001 European Control Conference (ECC).

The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings

D. MacArthur, L. Bottolo, D. O’Regan, 2023, medRxiv.

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

D. MacArthur, L. Bottolo, D. O’Regan, 2023, American journal of human genetics.

CASE BASED APPROACH FOR SUPERVISION. APPLICATION TO PID CONTROLLERS

Joaquim Melendez, Joan Colomer, Daniel Macaya, 2002 .