D. Cunningham

发表

exma: an X-linked insertional mutation that disrupts forebrain and eye development

G. Herman, P. Overbeek, K. Sulik, 2002, Mammalian Genome.

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

R. Steiner, G. Herman, Natalie Bir, 2015, Human molecular genetics.

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery

K. McBride, Gloria A. Zender, S. Fitzgerald-Butt, 2022, PLoS genetics.

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.

M. Bard, G. Herman, J. Peters, 2003, Molecular genetics and metabolism.

CHILD syndrome: clinical picture and diagnostic procedures

A. Jezela-Stanek, G. Herman, L. Brzezińska-Wcisło, 2007, Journal of the European Academy of Dermatology and Venereology : JEADV.

Left‐sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene

G. Herman, R. Kelley, C. Mullett, 2003, American journal of medical genetics. Part A.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

Steven J. M. Jones, Ryan D. Morin, Richard A. Moore, 2010, American journal of human genetics.

Contactin 4 as an autism susceptibility locus

J. Gastier-Foster, C. E. Alvarez, K. McBride, 2011, Autism research : official journal of the International Society for Autism Research.

Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.

Yan Zhou, T. Bagnyukova, A. Nikonova, 2013, Cancer discovery.

SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities

D. Chandler, Catherine E. Dominguez, D. Cunningham, 2017, Human Genetics.

Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.

E. Golemis, G. Herman, Dong-Hua Yang, 2015, Cell reports.

Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.

C. Boerkoel, G. Herman, K. McLarren, 2009, Molecular genetics and metabolism.

Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.

H. Caldas, G. Herman, R. Kelley, 2005, Molecular genetics and metabolism.

Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA

D. Chandler, Catherine E. Dominguez, D. Cunningham, 2022, Human Genetics.

Analysis of two candidate genes for Basan syndrome

G. Herman, D. Cunningham, Wesley Banks, 2014, American journal of medical genetics. Part A.

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.

K. McBride, G. Herman, Natalie Bir, 2010, Human molecular genetics.

Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.

Yan Zhou, T. Bagnyukova, A. Nikonova, 2013, Cancer discovery.