K. Panzer

发表

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

Allison L Goetsch, Ashley Cannon, A. Bergner, 2020, Journal of genetic counseling.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Katherine Mathews, Karin Panzer, Matthew Deardorff, 2015, American journal of human genetics.

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

J. Graham, K. Mathews, T. Pierson, 2018, Annals of clinical and translational neurology.

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, P. Stankiewicz, P. Szafranski, 2019, American journal of medical genetics. Part A.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Radiomic biomarkers informative of cancerous transformation in neurofibromatosis-1 plexiform tumors.

D. Meyerholz, D. Quelle, B. Darbro, 2019, Journal of neuroradiology. Journal de neuroradiologie.

A porcine model of neurofibromatosis type 1 that mimics the human disease.

D. Meyerholz, D. Quelle, B. Darbro, 2018, JCI insight.

A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST

R. Pauli, P. Modaff, K. Panzer, 2008, American journal of medical genetics. Part A.

Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia

B. Darbro, K. Panzer, O. Ekhaguere, 2017, Journal of clinical research in pediatric endocrinology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

C. Nellåker, F. Alkuraya, D. Lacombe, 2021, Clinical genetics.

A porcine model of neurofibromatosis type 1 that mimics the human disease.

D. Meyerholz, D. Quelle, B. Darbro, 2018, JCI insight.