I. Splawski

发表

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

E. Green, M. Curran, M. Keating, 1995, Cell.

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

G. Landes, A. Moss, P. Schwartz, 1996, Nature Genetics.

Mutations in the hminK gene cause long QT syndrome and suppress lKs function

M. Sanguinetti, M. Tristani-Firouzi, M. Keating, 1997, Nature Genetics.

Molecular basis of the long-QT syndrome associated with deafness.

M. Keating, I. Splawski, K. Timothy, 1997, The New England journal of medicine.

MiRP1 Forms IKr Potassium Channels with HERG and Is Associated with Cardiac Arrhythmia

M. Keating, I. Splawski, K. Timothy, 1999, Cell.

Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia

F. Cappuccio, A. Beggs, R. Kass, 2002, Science.

CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism

S. Priori, P. Schwartz, R. Bloise, 2004, Cell.

Long QT Syndrome-associated Mutations in the Per-Arnt-Sim (PAS) Domain of HERG Potassium Channels Accelerate Channel Deactivation*

M. Sanguinetti, M. Keating, I. Splawski, 1999, The Journal of Biological Chemistry.

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

Arthur J Moss, A. Moss, J. Towbin, 1995, Cell.

Spectrum of ST-T–Wave Patterns and Repolarization Parameters in Congenital Long-QT Syndrome: ECG Findings Identify Genotypes

Wojciech Zareba, Li Zhang, Carlo Napolitano, 2000, Circulation.

Spectrum of Mutations in Long-QT Syndrome Genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

A J Moss, S. Priori, A. Moss, 2000, Circulation.

Compound Mutations: A Common Cause of Severe Long-QT Syndrome

M. Sanguinetti, M. Keating, I. Splawski, 2004, Circulation.

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

Frank B Sachse, Alan H Beggs, Michael C Sanguinetti, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.

M. Sanguinetti, S. Heinemann, M. Keating, 2007, Cardiovascular research.

An intronic mutation causes long QT syndrome.

C. January, G. Vincent, M. Baralle, 2004, Journal of the American College of Cardiology.

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.

J. Stephens, R. Judson, D. Tester, 2004, Heart rhythm.

Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity

A. Moss, P. Schwartz, J. Towbin, 1994, Nature Genetics.

TRPM1 Forms Ion Channels Associated with Melanin Content in Melanocytes

D. Clapham, I. Splawski, E. Oancea, 2009, Science Signaling.

CACNA1H Mutations in Autism Spectrum Disorders*

D. Clapham, M. Keating, I. Splawski, 2006, Journal of Biological Chemistry.

CACNA 1 H Mutations in Autism Spectrum Disorders *

D. Clapham, M. Keating, I. Splawski, 2006 .

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

Carlo Napolitano, Silvia G Priori, Vann Bennett, 2004, Proceedings of the National Academy of Sciences of the United States of America.

Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

M. Keating, I. Splawski, K. Timothy, 1998, Genomics.

Tesidolumab (LFG316) for treatment of C5-variant patients with paroxysmal nocturnal hemoglobinuria

I. Rozenberg, M. Keating, I. Splawski, 2021, Haematologica.

Risk of Cardiac Arrhythmia Variant of SCN 5 A Sodium Channel Implicated in

F. Cappuccio, A. Beggs, R. Kass, 2007 .

Long QT Syndrome-associated Mutations in the S4-S5 Linker of KvLQT1 Potassium Channels Modify Gating and Interaction with minK Subunits*

M. Sanguinetti, M. Keating, I. Splawski, 1999, The Journal of Biological Chemistry.

Phenotypic characterization of Timothy syndrome - a complex cardiac and multisystem disorder

S. Priori, P. Schwartz, R. Bloise, 2005 .

Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia

F. Cappuccio, A. Beggs, R. Kass, 2002, Science.

TRPM1 Forms Ion Channels Associated with Melanin Content in Melanocytes

D. Clapham, I. Splawski, E. Oancea, 2009, Science Signaling.

Inaugural Article: Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

I. Splawski, 2005 .