Publications by authors named "Karin Panzer"

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CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Elizabeth E Palmer, Chloe Whitton, Mais O Hashem, Robin D Clark, Subhadra Ramanathan, Karin Panzer

Clin Genet· October 2021

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Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.
Heather B Radtke, Amanda L Bergner, Allison L Goetsch, Caroline McGowan, Karin Panzer

J Genet Couns· October 2020

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Karin Panzer

Hum Mutat· January 2020

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A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
Justyna A Karolak, Albino Bacolla, Qian Liu, Patrick E Lantz, John Petty, Karin Panzer

Am J Med Genet A· November 2019

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Novel pathogenic variants causing dysarthria, ataxia, and sensory neuropathy.
Maria G Otero, Emmanuelle Tiongson, Frank Diaz, Katrina Haude, Karin Panzer

Ann Clin Transl Neurol· January 2019

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A porcine model of neurofibromatosis type 1 that mimics the human disease.
Katherine A White, Vicki J Swier, Jacob T Cain, Jordan L Kohlmeyer, David K Meyerholz, Karin Panzer

JCI Insight· June 2018

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Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.
Karin Panzer, Osayame A Ekhaguere, Benjamin Darbro, Jennifer Cook, Oleg A Shchelochkov

J Clin Res Pediatr Endocrinol· March 2017

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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Akemi J Tanaka, Megan T Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Karin Panzer

Am J Hum Genet· September 2015

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Catherine A Brownstein, Alan H Beggs, Nils Homer, Barry Merriman, Timothy W Yu, Karin Panzer

Genome Biol· March 2014

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