Caleb P. Bupp

发表

Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis

J. Prokop, J. Lawlor, J. Schuen, 2020, Human Genetics.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

R. Pfundt, A. Hamosh, M. Broly, 2020, Genetics in Medicine.

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects

C. Schwartz, E. Alexov, Yunhui Peng, 2018, European Journal of Human Genetics.

Expanding the genetic heterogeneity of intellectual disability

F. Alkuraya, S. Arold, H. Houlden, 2017, Human Genetics.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Michael T. Zimmermann, Nikita R. Dsouza, A. Green, 2020, Genetics in Medicine.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

G. Palomaki, A. Gregg, D. Oglesbee, 2019, Genetics in Medicine.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

Marni J. Falk, H. Hakonarson, C. Walsh, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Role of CAMK2D in neurodevelopment and associated conditions.

J. Rosenfeld, F. Xia, Tzung-Chien Hsieh, 2024, American journal of human genetics.