D. Marchuk

W. Young, Guo-Yuan Yang, D. Marchuk, 2004, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Pathogenesis of hemangioma.

D. Marchuk, 2001, The Journal of clinical investigation.

Abnormal Pattern of Tie-2 and Vascular Endothelial Growth Factor Receptor Expression in Human Cerebral Arteriovenous Malformations

W. Young, D. Marchuk, L. Feng, 2000, Neurosurgery.

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.

D. Corcoran, R. Shenkar, I. Awad, 2014, Human molecular genetics.

PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism

M. Lawton, R. Shenkar, I. Awad, 2021, Nature.

A Brain-Targeted Orally Available ROCK2 Inhibitor Benefits Mild and Aggressive Cavernous Angioma Disease

R. Shenkar, I. Awad, Ying Cao, 2019, Translational Stroke Research.

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Biallelic Loss of ENG or ACVRL1

D. Marchuk, N. Vozoris, C. Gallione, 2019, bioRxiv.

Comprehensive transcriptome analysis of cerebral cavernous malformation across multiple species and genotypes.

R. Shenkar, I. Awad, Ying Cao, 2019, JCI insight.

Giant Infiltrative Cavernous Malformation: Clinical Presentation, Intervention, and Genetic Analysis: Case Report

G. E. Vates, M. Lawton, W. Young, 2004, Neurosurgery.

A locus for cerebral cavernous malformations maps to chromosome 7q in two families.

L. Morrison, B. Hart, B. Kosofsky, 1995, Genomics.

pYAC-RC, a yeast artificial chromosome vector for cloning DNA cut with infrequently cutting restriction endonucleases.

F. Collins, D. Marchuk, 1988, Nucleic acids research.

Arteriovenous Malformation

P. Kwok, L. Pawlikowska, M. Lawton, 2020, Vascular Anomalies.

A compound nucleotide repeat in the neurofibromatosis (NF1) gene.

F. Collins, L. B. Andersen, D. Marchuk, 1993, Human molecular genetics.

A highly polymorphic cDNA probe in the NF1 gene.

F. Collins, M. Wallace, L. B. Andersen, 1991, Nucleic acids research.

A polymorphic cDNA probe on chromosome 17q11.2 located within the NF1 gene [D17S376].

F. Collins, R. Cawthon, R. White, 1991, Nucleic acids research.

cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene.

P. O'Connell, M. Culver, R. Cawthon, 1991, Genomics.

Randomized, double-blind, placebo-controlled, crossover trial of oral doxycycline for epistaxis in hereditary hemorrhagic telangiectasia

D. Marchuk, P. Marambaud, N. Vozoris, 2022, Orphanet Journal of Rare Diseases.

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Matthew D. Shirley, Joseph D. Baugher, B. Cohen, 2013, The New England journal of medicine.

A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis

D. Marchuk, F. Galeffi, P. North, 2022, Angiogenesis.

Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.

M. Lawton, M. Moses, J. Pevsner, 2021, Pediatric neurology.

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

C. McCulloch, M. Lawton, M. Moses, 2019, Pediatric neurology.

Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset.

C. McCulloch, M. Lawton, M. Moses, 2019, Pediatric neurology.

A needle in a haystack: Sturge-Weber syndrome gene discovery.

J. Pevsner, D. Marchuk, A. Comi, 2013, Pediatric Neurology.

RAPID REPORT ZPLD1 GENE IS DISRUPTED IN A PATIENT WITH BALANCED TRANSLOCATION THAT EXHIBITS CEREBRAL CAVERNOUS MALFORMATIONS

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 2008 .

Response : Type 1 Neurofibromatosis Gene: Correction

L. B. Andersen, D. Marchuk, F. Collins, 1990, Science.

Cardiac Troponin I–Interacting Kinase Affects Cardiomyocyte S-Phase Activity but Not Cardiomyocyte Proliferation

S. Ware, D. Marchuk, E. Simpson, 2022, Circulation.

A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

D. W. Johnson, M. Porteous, D. Marchuk, 1995, Genome research.

Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

D. W. Johnson, M. Pericak-Vance, A. Guttmacher, 1994, Nature Genetics.

A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33–34

F. Collins, M. Boehnke, M. Iannuzzi, 1994, Nature Genetics.

Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations

L. Pawlikowska, D. Marchuk, Yingmiao Liu, 2021, Orphanet Journal of Rare Diseases.

Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products.

F. Collins, M. Drumm, A. Saulino, 1991, Nucleic acids research.

Novel Murine Models of Cerebral Cavernous Malformations

R. Shenkar, I. Awad, Ying Cao, 2020, Angiogenesis.

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)

A. Rustgi, G. Repetto, S. Tejpar, 2004, The Lancet.

Hereditary hemorrhagic telangiectasia.

A. Guttmacher, R. White, D. Marchuk, 1995, The New England journal of medicine.

Genetic heterogeneity in hereditary haemorrhagic telangiectasia.

M. Porteous, J. Burn, D. Marchuk, 1994, Journal of medical genetics.

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.

M. Pericak-Vance, A. Guttmacher, D. Marchuk, 1994, Journal of medical genetics.

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.

B. Brownstein, M. Wallace, L. B. Andersen, 1990, Science.

The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins

M. Wigler, M. Boguski, F. Collins, 1990, Cell.

Chromosome breakpoint at 17q11.2 and insertion of DNA from three different chromosomes in a glioblastoma with exceptional glial fibrillary acidic protein expression.

P. Meltzer, J. Trent, D. Marchuk, 1996, Cancer genetics and cytogenetics.

Precocious osteoarthritis in a family with recurrent COL2A1 mutation.

D. Marchuk, Andrea K. Perry, K. Reinker, 2006, The Journal of rheumatology.

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

F. Collins, T. Glover, D. Marchuk, 1993, Nature Genetics.

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.

M. Boguski, F. Collins, D. Gutmann, 1991, Genomics.

Sequencing and analysis of genomic fragments from the NF1 locus.

A. Kerlavage, J. Venter, F. Collins, 1992, DNA sequence : the journal of DNA sequencing and mapping.

Human Retroviral gag- and gag-pol-like Proteins Interact with the Transforming Growth Factor-β Receptor Activin Receptor-like Kinase 1*[boxs]

D. Marchuk, M. Majety, M. Hafner, 2005, Journal of Biological Chemistry.

The human keratin genes and their differential expression.

E. Fuchs, A. Tyner, D. Marchuk, 1987, Current topics in developmental biology.

A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity

M. Wigler, F. Collins, D. Gutmann, 1993, Molecular and cellular biology.

Identification and mapping of type 1 neurofibromatosis (NF1) homologous loci.

J. Trent, L. M. Cummings, D. Marchuk, 1996, Cytogenetics and cell genetics.

A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.

F. Collins, P. Taillon-Miller, B. Brownstein, 1992, Genomics.

The Molecular Basis of Cerebrovascular Malformations

D. Marchuk, 2005 .

Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

D. Marchuk, N. Pece-Barbara, M. Letarte, 1999, Human molecular genetics.

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

M. Pericak-Vance, A. Ashley-Koch, D. Rubinsztein, 2002, American journal of human genetics.

Developmental venous anomalies are a genetic primer for cerebral cavernous malformations

I. Awad, D. Marchuk, R. Girard, 2021, Nature Cardiovascular Research.

Novel hemorrhage models of cerebral cavernous malformations

R. Shenkar, I. Awad, Ying Cao, 2020, bioRxiv.

Cerebral Cavernous Malformations Develop through Clonal Expansion of Mutant Endothelial Cells

D. Marchuk, D. Snellings, M. Detter, 2018, bioRxiv.

A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations

J. Weber, I. Awad, D. Marchuk, 2011, Genetics in Medicine.

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.

G. Steinberg, D. Marchuk, J. Zabramski, 2009, Human molecular genetics.

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

F. Gianfrancesco, T. Esposito, C. Liquori, 2008, Neurogenetics.

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations

F. Gianfrancesco, T. Esposito, C. Liquori, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations

H. Matsunami, D. Marchuk, J. Zawistowski, 2006, Mammalian Genome.

Genetics of cerebral cavernous malformations

D. Marchuk, J. Zawistowski, N. W. Plummer, 2005, Current neurology and neuroscience reports.

Vascular morphogenesis: tales of two syndromes.

D. Marchuk, J. Zawistowski, S. Srinivasan, 2003, Human molecular genetics.

KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis.

Erica A Golemis, Ilya G Serebriiskii, E. Golemis, 2002, Human molecular genetics.

Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene.

E. Green, E. Golemis, D. Marchuk, 2001, Genomics.

Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.

J. Weber, J. Weissenbach, L. Morrison, 1995, Genome research.

Type I and type II keratins have evolved from lower eukaryotes to form the epidermal intermediate filaments in mammalian skin.

E. Fuchs, D. Marchuk, 1983, Proceedings of the National Academy of Sciences of the United States of America.

Somatic mutations in the neurofibromatosis 1 gene in gliomas and primitive neuroectodermal tumours.

R. Neumann, D. Marchuk, P. Nurnberg, 1995, Anticancer research.

A Locus Mapping to Mouse Chromosome 7 Determines Infarct Volume in a Mouse Model of Ischemic Stroke

D. Marchuk, S. Keum, 2009, Circulation. Cardiovascular genetics.

Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development.

D. Marchuk, Andrew J. H. Smith, D. Parums, 2000, Developmental biology.

QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival

D. Marchuk, H. Rockman, Matthew J. Wolf, 2005, Mammalian Genome.

Genetic Modifier Loci Affecting Survival and Cardiac Function in Murine Dilated Cardiomyopathy

D. Marchuk, H. Rockman, Kerri M. Carlson, 2002, Circulation.

Deletions in CCM2 are a common cause of cerebral cavernous malformations.

C. Liquori, D. Marchuk, L. Ptáček, 2007, American journal of human genetics.

Differential Expression of the Genes Encoding the Keratins of Cultured Human Epidermal Cells

E. Fuchs, A. Tyner, D. Marchuk, 1986 .

The Nature and Significance of Differential Keratin Gene Expression a

E. Fuchs, D. Marchuk, K. Kim, 1985, Annals of the New York Academy of Sciences.

Expression of Unusually Large Keratins during Terminal Differentiation : Balance of Type Type II Keratins Is Not Disrupted land

E. Fuchs, D. Marchuk, K. Kim, 2003 .

Expression of unusually large keratins during terminal differentiation: balance of type I and type II keratins is not disrupted

E. Fuchs, D. Marchuk, K. Kim, 1984, The Journal of cell biology.

Modifier Locus on Mouse Chromosome 3 for Renal Vascular Pathology in AT1A Receptor-Deficiency

D. Marchuk, T. Coffman, A. Fogo, 2004, Hypertension.

Dissection of a Quantitative Trait Locus for PR Interval Duration Identifies Tnni3k as a Novel Modulator of Cardiac Conduction

D. Marchuk, P. Moerland, B. Scicluna, 2012, PLoS genetics.

Doctors get closer to deciding the true birth prevalence of Prader-Willi syndrome

A. Guttmacher, M. Porteous, D. Marchuk, 2003, Journal of medical genetics.

Natural Genetic Variation of Integrin Alpha L (Itgal) Modulates Ischemic Brain Injury in Stroke

D. Marchuk, D. Lo, Min-Nung Huang, 2013, PLoS genetics.

The molecular genetics of hereditary hemorrhagic telangiectasia.

D. Marchuk, 1997, Chest.

Remarkable conservation of structure among intermediate filament genes

E. Fuchs, D. Marchuk, S. McCrohon, 1984, Cell.

Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2

D. W. Johnson, M. Pericak-Vance, R. Kucherlapati, 1996, Nature Genetics.

ADVANCED MAGNETIC RESONANCE IMAGING OF CEREBRAL CAVERNOUS MALFORMATIONS: PART II. IMAGING OF LESIONS IN MURINE MODELS

R. Shenkar, I. Awad, A. Wyrwicz, 2008, Neurosurgery.

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

D. W. Johnson, C. Schwartz, M. Porteous, 1997, American journal of human genetics.

Genetic mapping of a novel familial form of infantile hemangioma.

S. Orlow, D. Marchuk, F. Blei, 1999, American journal of medical genetics.

A Quantitative Trait Locus (LSq-1) on Mouse Chromosome 7 Is Linked to the Absence of Tissue Loss After Surgical Hindlimb Ischemia

D. Marchuk, S. Keum, B. Annex, 2008, Circulation.

Redefining heart failure: the utility of genomics.

D. Marchuk, H. Rockman, Douglas A Marchuk, 2006, Journal of the American College of Cardiology.

Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction.

D. Marchuk, K. Xiao, H. Rockman, 2013, Journal of molecular and cellular cardiology.

Assignment of human transforming growth factor-beta type I and type III receptor genes (TGFBR1 and TGFBR3) to 9q33-q34 and 1p32-p33, respectively.

D. W. Johnson, M. Qumsiyeh, D. Marchuk, 1995, Genomics.

Genomic characterization of POS5, the Saccharomyces cerevisiae mitochondrial NADH kinase.

K. Shianna, D. Marchuk, Micheline K. Strand, 2006, Mitochondrion.

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.

C. Liquori, D. Verlaan, A. Siegel, 2003, American journal of human genetics.

RhoA Kinase Inhibition With Fasudil Versus Simvastatin in Murine Models of Cerebral Cavernous Malformations

R. Shenkar, I. Awad, Ying Cao, 2017, Stroke.

B-Cell Depletion Reduces the Maturation of Cerebral Cavernous Malformations in Murine Models

R. Shenkar, I. Awad, A. Louvi, 2016, Journal of Neuroimmune Pharmacology.

Transcriptome clarifies mechanisms of lesion genesis versus progression in models of Ccm3 cerebral cavernous malformations

R. Shenkar, I. Awad, Ying Cao, 2019, Acta Neuropathologica Communications.

Rho Kinase Inhibition Blunts Lesion Development and Hemorrhage in Murine Models of Aggressive Pdcd10/Ccm3 Disease

R. Shenkar, I. Awad, Ying Cao, 2019, Stroke.

Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy.

D. Marchuk, Hyun-Young Park, H. Rockman, 2003, Human molecular genetics.

A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2.

M. Porteous, M. Hanes, D. Marchuk, 2003, Human molecular genetics.

Polymorphisms in Genes Involved in Inflammatory and Angiogenic Pathways and the Risk of Hemorrhagic Presentation of Brain Arteriovenous Malformations

C. McCulloch, P. Kwok, L. Pawlikowska, 2004, Stroke.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

Robert I. White, W. Reardon, B. Bernhardt, 2010, American journal of medical genetics. Part A.

Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation

C. Lengner, L. Morrison, Qin Zhu, 2019, Science Translational Medicine.

A Neuroprotective Locus Modulates Ischemic Stroke Infarction Independent of Collateral Vessel Anatomy

David L. Aylor, D. Aylor, D. Marchuk, 2020, bioRxiv.

Allelic differences in the serotonin transporter-linked polymorphic region in geriatric depression.

K. Krishnan, D. Steffens, D. Marchuk, 2002, The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry.

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

M. Pericak-Vance, J. Vance, A. Ashley-Koch, 2001, American journal of human genetics.

Hypertension and albuminuria in chronic kidney disease mapped to a mouse chromosome 11 locus.

D. Marchuk, H. Rockman, R. Griffiths, 2007, Kidney international.

Additional Glomangioma Families Link to Chromosome 1p: No Evidence for Genetic Heterogeneity

S. Orlow, D. Marchuk, M. Speer, 2001, Human Heredity.

Inhibition of the cardiomyocyte-specific troponin I-interacting kinase limits oxidative stress, injury, and adverse remodeling due to ischemic heart disease.

D. Marchuk, Dennis M. Abraham, D. A. Marchuk, 2014, Circulation research.

Childhood Socioeconomic Status and Serotonin Transporter Gene Polymorphism Enhance Cardiovascular Reactivity to Mental Stress

K. Gadde, A. Ashley-Koch, S. Schanberg, 2008, Psychosomatic medicine.

Allelic and locus heterogeneity in inherited venous malformations.

M C Speer, N C Nevin, J T Calvert, 1999, Human molecular genetics.

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles

Joshua D. Smith, A. Guttmacher, W. Craigen, 1998, Human mutation.

Tnni3k Modifies Disease Progression in Murine Models of Cardiomyopathy

T. Hadnott, D. Marchuk, H. Rockman, 2009, PLoS genetics.

Updates and future horizons on the understanding, diagnosis, and treatment of Sturge–Weber syndrome brain involvement

Joshua B. Ewen, D. Marchuk, L. Jordan, 2012, Developmental medicine and child neurology.

Corrigendum: The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases

Christopher A. Jones, Dean Y. Li, G. Davis, 2009, Nature Network Boston.

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations

C. Liquori, D. Verlaan, A. Siegel, 2004, Annals of neurology.

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus

C. Liquori, D. Marchuk, L. Ptáček, 2006, Human mutation.

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.

Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations.

Pui-Yan Kwok, Charles E McCulloch, Michael T Lawton, 2006, Stroke.

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12

M. Pericak-Vance, S. Züchner, A. Ashley-Koch, 2006, Neurogenetics.

Increased tissue perfusion promotes capillary dysplasia in the ALK1-deficient mouse brain following VEGF stimulation.

W. Young, Guo-Yuan Yang, D. Marchuk, 2008, American journal of physiology. Heart and circulatory physiology.

Genetic considerations relevant to intracranial hemorrhage and brain arteriovenous malformations.

L. Pawlikowska, D. Marchuk, Yongmei Chen, 2008, Acta neurochirurgica. Supplement.

Associations among the NEO Personality Inventory, Revised and the serotonin transporter gene-linked polymorphic region in elders: effects of depression and gender

D. Steffens, D. Mcquoid, D. Marchuk, 2003, Psychiatric genetics.

Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997.

A. Guttmacher, D. Marchuk, J. Penner, 1998, American journal of medical genetics.

Tumor Necrosis Factor-&agr;–238G>A Promoter Polymorphism Is Associated With Increased Risk of New Hemorrhage in the Natural Course of Patients With Brain Arteriovenous Malformations

Pui-Yan Kwok, Michael T. Lawton, Charles E. McCulloch, 2006 .

Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia

D. Marchuk, M. Letarte, C. Gallione, 2004, European Respiratory Journal.

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.

A. Guttmacher, M. Porteous, D. Marchuk, 1995, Human molecular genetics.

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

A. Guttmacher, M. Porteous, D. Marchuk, 1996, Journal of medical genetics.

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class

A. Ashley-Koch, A. Dürr, D. Marchuk, 2003, Journal of medical genetics.

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia

M. Pericak-Vance, W. Scott, J. Vance, 2001, Neurogenetics.

Gene Microarray Analysis of Human Brain Arteriovenous Malformations

H. Dressman, N. Barbaro, T. Chaly, 2004, Neurosurgery.

ATTRACT Arterial Flow as Attractor for Endothelial Cell Migration

H. Gerhardt, D. Marchuk, A. Eichmann, 2019 .

ATTRACT.

D. Marchuk, Petya B Georgieva, H. Gerhardt, 2019, Circulation Research.

COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.

D. Kwiatkowski, D. Marchuk, D. Greenspan, 1995, Genomics.

Abstract 16031: Tnni3k is a Novel Modulator of Cardiac Conduction

D. Marchuk, P. Moerland, B. Scicluna, 2011 .

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

D. Marchuk, C. Gallione, A. Lux, 2000, Human molecular genetics.

A novel genetic locus modulates infarct volume independently of the extent of collateral circulation.

D. Marchuk, S. Keum, Pei-Lun Chu, 2013, Physiological genomics.

Quantification metrics for telangiectasia using optical coherence tomography

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

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations

W. Min, R. Shenkar, I. Awad, 2014, Genetics in Medicine.

Cerebral Cavernous Malformation

I. Awad, D. Marchuk, R. Girard, 2021, Circulation research.

Analysis of yeast artificial chromosome clones.

F. Collins, D. Marchuk, S. Chandrasekharappa, 1992, Methods in molecular biology.

The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene.

F. Collins, V. Riccardi, L. Kayes, 1992, Genomics.

In Reply: Type 1 Neurofibromatosis Gene: Correction

F. Collins, M. Wallace, L. B. Andersen, 1990 .

Understanding cardiac electrical phenotypes in the genomic era

D. Marchuk, P. Moerland, B. Scicluna, 2015 .

A gene for familial venous malformations maps to chromosome 9p in a second large kindred.

D. W. Johnson, M. Pericak-Vance, J. Mulliken, 1995, Journal of medical genetics.

ALK1 signalling analysis identifies angiogenesis related genes and reveals disparity between TGF-beta and constitutively active receptor induced gene expression.

H. Dressman, P. Day, D. Marchuk, 2006, BMC cardiovascular disorders.

Brain Vascular Malformaon Consorum: Overview, Progress, and Future Direcons ; on Behalf of the Brain Vascular Malformaon Consorum* the Journal of Rare Disorders

Gopal, Srivastava, Akers, 2022 .

Biomarkers of cavernous angioma with symptomatic hemorrhage.

R. Shenkar, I. Awad, Agnieszka Stadnik, 2019, JCI insight.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

W. Reardon, B. Bernhardt, R. Pyeritz, 2010, American journal of medical genetics. Part A.

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.

R. Kucherlapati, R. Shenkar, I. Awad, 2011, Human molecular genetics.

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.

D. Corcoran, R. Shenkar, I. Awad, 2014, Human molecular genetics.

Arteriovenous malformation. Authors' reply

P. Kwok, A. Ziegler, L. Pawlikowska, 2007 .

mTORC1 Inhibitor Rapamycin Inhibits Growth of Cerebral Cavernous Malformation in Adult Mice

R. Shenkar, I. Awad, D. Marchuk, 2023, Stroke.

Developmental Expression of the Sturge-Weber Syndrome-associated Genetic Mutation in Gnaq: a Formal Test of Happle's Paradominant Inheritance Hypothesis.

D. Marchuk, F. Galeffi, C. Gallione, 2023, Genetics.

A Brain-Targeted Orally Available ROCK2 Inhibitor Benefits Mild and Aggressive Cavernous Angioma Disease

R. Shenkar, I. Awad, Ying Cao, 2019, Translational Stroke Research.

Propranolol inhibits cavernous vascular malformations by β1 adrenergic receptor antagonism in animal models.

R. Shenkar, I. Awad, Ying Cao, 2021, The Journal of clinical investigation.