M. Kane

发表

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

H. Freeze, D. Adams, C. Boerkoel, 2016, American journal of human genetics.

The Krüppel-like factor 2 and Krüppel-like factor 4 genes interact to maintain endothelial integrity in mouse embryonic vasculogenesis

G. Eades, J. Lloyd, J. Haar, 2013, BMC Developmental Biology.

Requirements for Efficient Proteolytic Cleavage of Prelamin A by ZMPSTE24

J. Barrowman, S. Michaelis, M. Kane, 2012, PloS one.

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Damian Smedley, Cheng-Kang Hsieh, Karen Xu, 2017, Front. Med..

LMNA‐associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

D. Judge, H. Dietz, M. Lindsay, 2013, American journal of medical genetics. Part A.

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn

Aaron D. Black, N. Hauser, D. Bodian, 2017, Genetics in Medicine.

Glycomics in rare diseases: from diagnosis tomechanism

C. Toro, C. Boerkoel, C. Tifft, 2019, Translational research : the journal of laboratory and clinical medicine.

Abnormal glycosylation in Joubert syndrome type 10

C. Boerkoel, W. Gahl, M. Davids, 2017, Cilia.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

C. Toro, C. Boerkoel, W. Gahl, 2015, Journal of Medical Genetics.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

D. Adams, C. Boerkoel, W. Gahl, 2015, Molecular genetics and metabolism.

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants

N. Hauser, J. Niederhuber, T. Vilboux, 2019, Genes & diseases.

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

J. Vockley, L. Wolfe, Kathi Huddleston, 2016, Brain : a journal of neurology.

MED23‐associated intellectual disability in a non‐consanguineous family

Yan Huang, William A Gahl, Gilbert Vezina, 2015, American journal of medical genetics. Part A.

Mondo: Unifying diseases for the world, by the world

Charles Tapley Hoyt, Daniel S. Himmelstein, D. Maglott, 2022, medRxiv.

EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome

N. Hauser, S. Srivastava, J. Niederhuber, 2019, Neuropediatrics.