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Publications by Brenda J. Barry

Human Mutations in NDE1 Cause Extreme Microcephaly With Lissencephaly

American Journal of Human Genetics

English

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Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics

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Correction: Autosomal Recessive Lissencephaly With Cerebellar Hypoplasia Is Associated With Human RELN Mutations

Nature Genetics

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Mutations in the Human SC4MOL Gene Encoding a Methyl Sterol Oxidase Cause Psoriasiform Dermatitis, Microcephaly, and Developmental Delay

Journal of Clinical Investigation

English

RAD21 Mutations Cause a Human Cohesinopathy

American Journal of Human Genetics

English

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

American Journal of Human Genetics

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Inactivating Mutations in MFSD2A, Required for Omega-3 Fatty Acid Transport in Brain, Cause a Lethal Microcephaly Syndrome

Nature Genetics

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Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

American Journal of Human Genetics

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Reply to Mazzeu: Human Mutations inRYKMight Cause Robinow Syndrome

Journal of Biological Chemistry

Molecular Biology

English

NPMc+ Cooperates With Flt3/Itd Mutations to Cause Acute Leukemia Recapitulating Human Disease

Experimental Hematology

Cancer Research

Molecular Biology

English