S. DePalma

发表

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Yufeng Shen, Alessandro Giardini, Hongyu Zhao, 2017, Nature Genetics.

De novo mutations in histone modifying genes in congenital heart disease

Murim Choi, Hongyu Zhao, Alexander E. Lopez, 2013, Nature.

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.

S. Gabriel, D. Altshuler, J. Hirschhorn, 2012, American journal of human genetics.

ViroFind: A novel target-enrichment deep-sequencing platform reveals a complex JC virus population in the brain of PML patients

J. Seidman, C. Seidman, D. McKean, 2018, PloS one.

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Matthew S. Lebo, J. Seidman, H. Rehm, 2015, Genetics in Medicine.

Truncations of titin causing dilated cardiomyopathy.

L. Mestroni, J. Seidman, D. Pennell, 2012, The New England journal of medicine.

De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot

Joshua M. Korn, Philip L De Jager, Steven A McCarroll, 2009, Nature Genetics.

Spectrum of somatic mitochondrial mutations in five cancers

Lynda Chin, Alexei Protopopov, Christine E Seidman, 2012, Proceedings of the National Academy of Sciences.

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

S. Solomon, J. Seidman, C. Seidman, 2001, The New England journal of medicine.

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

K. B. Manheimer, W. Chung, J. Seidman, 2020, Genome Medicine.

Cardiomyocyte Proliferative Capacity Is Restricted in Mice With Lmna Mutation

J. Seidman, C. Seidman, H. Wakimoto, 2021, Frontiers in Cardiovascular Medicine.

Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

Ossama K. Abou Hassan, J. Seidman, J. Ware, 2020, Circulation. Genomic and precision medicine.

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

Parth N. Patel, J. Seidman, D. Fatkin, 2017, Proceedings of the National Academy of Sciences.

Using Next-generation RNA Sequencing to Examine Ischemic Changes Induced by Cold Blood Cardioplegia on the Human Left Ventricular Myocardium Transcriptome

J. Seidman, S. Aranki, M. Heydarpour, 2015, Anesthesiology.

NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity

J. Seidman, C. Seidman, S. DePalma, 2015, Scientific Reports.

Genomewide Linkage in a Large Caucasian Family Maps a New Locus for Intracranial Aneurysms to Chromosome 13q

J. Seidman, C. Seidman, S. DePalma, 2009, Stroke.

108 A NOVEL COL1A1 MUTATION IN INFANTILE CORTICAL HYPEROSTOSIS (CAFFEY DISEASE) EXPANDS THE SPECTRUM OF COLLAGEN-RELATED DISORDERS

D. Sillence, S. Mundlos, J. Seidman, 2005, Journal of Investigative Medicine.

Early post-zygotic mutations contribute to congenital heart disease

K. B. Manheimer, W. Chung, J. Seidman, 2019, bioRxiv.

THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

J. Seidman, D. Milewicz, C. Seidman, 2016, Stroke.

BET Bromodomain Proteins Regulate Transcriptional Reprogramming in Genetic Dilated Cardiomyopathy

Saptarsi M. Haldar, Michael A. Burke, J. Seidman, 2020, bioRxiv.

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

W. Chung, J. Seidman, A. Sharp, 2020, PLoS genetics.

An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations

J. Seidman, R. Eavey, C. Seidman, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Neither cardiac mitochondrial DNA variation or copy number contribute to congenital heart disease risk

J. Seidman, Yufeng Shen, D. Bernstein, 2022, The American Journal of Human Genetics.

Sarcomere Protein Mutations Cause Dilated Cardiomyopathy

S. Solomon, J. Seidman, C. Seidman, 2001 .

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

Gloria L. Porras-Hurtado, J. Seidman, R. Eavey, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere

S. Gygi, J. Seidman, J. Paulo, 2022, Circulation.

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Yufeng Shen, Boris Yamrom, Jeremy Leipzig, 2014, Circulation research.

A nonsense mutation in MSX1 causes Witkop syndrome.

J. Seidman, U. Felbor, R. Maas, 2001, American journal of human genetics.

ORE identifies extreme expression effects enriched for rare variants

F. Richter, G. E. Hoffman, K. B. Manheimer, 2019, Bioinform..

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Stephan J Sanders, M. Daly, W. Chung, 2015, Science.

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Kathleen M. Chen, K. B. Manheimer, G. Marth, 2020, Nature Genetics.

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.

Birgit Funke, Christine E Seidman, S. Colan, 2010, Journal of the American College of Cardiology.

Contribution of rare transmitted and de novo variants among 2 , 871 1 congenital heart disease probands

Deepak, Stephan J Sanders, W. Chung, 2017 .

5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.

J. Seidman, M. Bulyk, P. D. De Jager, 2014, The Journal of clinical investigation.

Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy

Parth N. Patel, J. Seidman, S. Cook, 2021, Circulation. Genomic and precision medicine.

Discordant clinical features of identical hypertrophic cardiomyopathy twins

J. Seidman, A. Pereira, C. Seidman, 2021, Proceedings of the National Academy of Sciences.

Discovery and analyses of pathogenic variants in explanted hearts from primary cardiomyopathy patients

J. Seidman, C. Seidman, J. Gorham, 2020 .

Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy

Parth N. Patel, J. Seidman, D. O’Regan, 2019, Circulation.

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

Jacob T. Munro, Angharad M Roberts, J. Seidman, 2018, Genetics in Medicine.

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

W. Chung, J. Seidman, D. Srivastava, 2020, eLife.

Nationwide Study on Hypertrophic Cardiomyopathy in Iceland: Evidence of a MYBPC3 Founder Mutation

Michael A. Burke, D. Gudbjartsson, K. Stefánsson, 2014, Circulation.

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

Craig C. Benson, W. Chung, J. Seidman, 2021, Circulation research.

Locus for Familial Migrainous Vertigo Disease Maps to Chromosome 5q35

J. Seidman, S. Merchant, C. Seidman, 2009, The Annals of otology, rhinology, and laryngology.

Loss of RNA expression and allele-specific expression associated with congenital heart disease

Yufeng Shen, Andrew J Sharp, Nihir Patel, 2016, Nature Communications.

Whole Genome De Novo Variant Identification with FreeBayes and Neural Network Approaches

Yufeng Shen, Nihir Patel, Felix Richter, 2020, bioRxiv.

Molecular profiling of dilated cardiomyopathy that progresses to heart failure.

Michael A. Burke, J. Seidman, C. Seidman, 2016, JCI insight.

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

Jourdan K. Ewoldt, S. Gygi, J. Seidman, 2021, Circulation research.

Genome-Wide Assessment for Genetic Variants Associated with Ventricular Dysfunction after Primary Coronary Artery Bypass Graft Surgery

Dan M. Roden, Christine E. Seidman, Kuang-Yu Liu, 2011, PloS one.

Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy

J. Seidman, D. Judge, S. Goland, 2021, Circulation.

Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants

S. Gabriel, D. Altshuler, J. Hirschhorn, 2014, Circulation research.

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

Barry J Maron, Christine E Seidman, J. Seidman, 2006, Circulation.

HOXA2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

J. Seidman, R. Eavey, Kerry K. Brown, 2013, Human mutation.

Localized aggressive periodontitis is linked to human chromosome 1q25

Thomas E. Van Dyke, Yefu Li, S. DePalma, 2004, Human Genetics.

Molecular epidemiology of hypertrophic cardiomyopathy.

J. Seidman, B. Maron, C. Seidman, 2002, Cold Spring Harbor symposia on quantitative biology.

De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects

Stephan J Sanders, M. Daly, W. Chung, 2016 .

as a genetic modifier in cardiomyopathy

M. Bulyk, A. Aboukhalil, C. Seidman, 2014 .

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Gabor T. Marth, Kathleen M. Chen, K. B. Manheimer, 2020, Nature Genetics.

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

Jacob T. Munro, J. Seidman, S. Cook, 2018, Genetics in Medicine.

Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease

Parth N. Patel, J. Seidman, Yufeng Shen, 2023, Circulation. Genomic and precision medicine.

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

K. B. Manheimer, W. Chung, J. Seidman, 2020, Genome Medicine.

Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1 Using Rare Variant Linkage Analysis and Long Read Genome Sequencing

P. Zhang, J. Seidman, C. Seidman, 2023, medRxiv.

Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses

J. Hirschhorn, E. Benjamin, R. Vasan, 2006, BMC Genetics.

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Matthew S. Lebo, J. Seidman, H. Rehm, 2015, Genetics in Medicine.

Truncations of titin causing dilated cardiomyopathy.

L. Mestroni, J. Seidman, D. Pennell, 2012, The New England journal of medicine.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Stephan J Sanders, M. Daly, W. Chung, 2015, Science.

Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation

C. Seidman, S. DePalma, B. McDonough, 2023, Circulation. Genomic and precision medicine.

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: CLINICAL AND GENETIC DIAGNOSIS

S. DePalma, F. She, Yuanwei Liu, 2023 .

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

Parth N. Patel, J. Seidman, D. Fatkin, 2017, Proceedings of the National Academy of Sciences.

Quantification of gene transcripts with deep sequencing analysis of gene expression (DSAGE) using 1 to 2 µg total RNA.

H. Wakimoto, J. Gorham, S. DePalma, 2011, Current protocols in molecular biology.