M. Brunkow

发表

Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals

Gustavo Glusman, Max Robinson, Jared C Roach, 2016, Human Genome Variation.

Cellular and molecular characterization of the scurfy mouse mutant.

S. Ziegler, F. Ramsdell, J. Wilkinson, 1999, Journal of Immunology.

SOST-Related Sclerosing Bone Dysplasias

P. Beighton, M. Brunkow, H. Hamersma, 2013 .

Measurement of organ-specific and acute-phase blood protein levels in early Lyme disease

Alison W. Rebman, L. Hood, N. Price, 2019, bioRxiv.

Embryonic and adult expression patterns of the Tec tyrosine kinase gene suggest a role in megakaryocytopoiesis, blood vessel development, and melanogenesis.

M. Klüppel, A. Bernstein, D. Donoviel, 1997, Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

H. Ochs, P. Ferguson, F. Ramsdell, 2001, Nature Genetics.

ResponsivenessPeripheral T Cell Number and The Amount of Scurfin Protein Determines

M. Mortrud, S. Ziegler, F. Ramsdell, 2001 .

A 1.8-Mb YAC contig spanning three members of the receptor tyrosine kinase gene family (Pdgfra, Kit, and Flk1) on mouse chromosome 5.

M. Bucan, A. Bernstein, M. Brunkow, 1995, Genomics.

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.

D. Galas, S. Proll, P. Beighton, 2002, American journal of medical genetics.

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

D. Galas, P. Sabo, S. Proll, 2001, American journal of human genetics.

Osteocyte control of bone formation via sclerostin, a novel BMP antagonist

John A Latham, K. Staehling-Hampton, M. Brunkow, 2003, The EMBO journal.

Ectopic expression of the H19 gene in mice causes prenatal lethality.

S. Tilghman, M. Brunkow, M E Brunkow, 1991, Genes & development.

A point mutation in the murine Hem1 gene reveals an essential role for Hematopoietic Protein 1 in lymphopoiesis and innate immunity

H. D. Liggitt, K. Staehling-Hampton, F. Ramsdell, 2008, The Journal of experimental medicine.

Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse

D. Galas, S. Ziegler, B. Paeper, 2001, Nature Genetics.

A Novel Mutation in CD83 Results in the Development of a Unique Population of CD4+ T Cells

S. Proll, B. Paeper, K. Staehling-Hampton, 2004, The Journal of Immunology.

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

Jared C. Roach, Gustavo Glusman, Max Robinson, 2015, Front. Genet..

Proto-oncogenes in mammalian development

A. Bernstein, L. Forrester, M. Brunkow, 1992, Current Biology.

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

J. Casanova, S. Proll, F. Ramsdell, 2001, Nature Genetics.

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome

Hans D. Ochs, Mary E. Brunkow, H. Ochs, 2001, Immunogenetics.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and the scurfy mutant mouse

H. Ochs, R. Khattri, M. Brunkow, 2002 .

Epigenetic mechanisms underlying the imprinting of the mouse H19 gene.

D. Kaiser, M. Rosenfeld, D. Riley, 1993, Genes & development.

Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites.

A. Uitterlinden, J. V. van Meurs, F. Rivadeneira, 2004, American journal of human genetics.

The Amount of Scurfin Protein Determines Peripheral T Cell Number and Responsiveness1

M. Mortrud, S. Ziegler, F. Ramsdell, 2001, The Journal of Immunology.

T Cells +of a Unique Population of CD4 A Novel Mutation in CD83 Results in the

B. Paeper, J. Latham, D. M. Andrews, 2017 .

T Cells +Development of a Unique Population of CD4 A Novel Mutation in CD83 Results in the

S. Proll, B. Paeper, K. Staehling-Hampton, 2004 .

Sclerostin: how human mutations have helped reveal a new target for the treatment of osteoporosis.

M. Robinson, J. Caminis, M. Brunkow, 2013, Drug discovery today.

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Matthew T. Sweney, J. Roach, D. Galas, 2015, PLoS ONE.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Jared C. Roach, Gustavo Glusman, Fengfeng Zhou, 2015, PloS one.

Parental imprinting of the H19 and Igf2 genes in the mouse.

A. Webber, M. Bartolomei, S. Tilghman, 1993, Cold Spring Harbor symposia on quantitative biology.

Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease

J. Roach, G. Bedoya, E. Reiman, 2014, Alzheimer's & Dementia.

Rare variants in neuronal excitability genes influence risk for bipolar disorder

Gustavo Glusman, Francis J McMahon, Jared C Roach, 2015, Proceedings of the National Academy of Sciences.

Evolutionary history of Tibetans inferred from whole-genome sequencing

L. Hood, J. Roach, L. Jorde, 2017, PLoS genetics.

Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development.

H. D. Liggitt, T. Habib, B. Iritani, 2012, Immunity.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Matthew T. Sweney, J. Roach, D. Galas, 2015, PloS one.