Jennifer McCallum

发表

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

I. Krantz, M. Devoto, L. Jackson, 2004, American journal of human genetics.

Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: Who should be offered GJB2 testing?

I. Krantz, H. Rehm, C. Robson, 2007, American journal of medical genetics. Part A.

Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.

I. Krantz, M. Devoto, L. Jackson, 2006, Archives of ophthalmology.

Molecular determinants of NMDA receptor internalization

K. Roche, M. Ehlers, R. Wenthold, 2001, Nature Neuroscience.

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

I. Krantz, M. Bamshad, C. Morris, 2004, Nature Genetics.

Subunit-Specific Regulation of NMDA Receptor Endocytosis

K. Roche, G. Lavezzari, Gabriela Lavezzari, 2004, The Journal of Neuroscience.

Differential binding of the AP-2 adaptor complex and PSD-95 to the C-terminus of the NMDA receptor subunit NR2B regulates surface expression

K. Roche, J. McCallum, G. Lavezzari, 2003, Neuropharmacology.

Synapse-Associated Protein 97 Selectively Associates with a Subset of AMPA Receptors Early in their Biosynthetic Pathway

R. Petralia, R. Wenthold, C. Racca, 2001, The Journal of Neuroscience.

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic

I. Krantz, C. Stolle, Dinah Yaeger, 2006, American journal of medical genetics. Part A.

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

I. Krantz, N. Spinner, M. Devoto, 2005, American journal of medical genetics. Part A.

PDZ Domain Suppression of an ER Retention Signal in NMDA Receptor NR1 Splice Variants

K. Roche, R. Wenthold, N. Sans, 2000, Neuron.

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late‐onset Friedreich ataxia

E. Frackelton, Robert B. Wilson, D. Lynch, 2008, Movement disorders : official journal of the Movement Disorder Society.

Trafficking and surface expression of the glutamate receptor subunit, KA2.

J. Isaac, K. Roche, Dayna M. Hayes, 2003, Biochemical and biophysical research communications.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.