Samantha Choi

Expanding the clinical phenotype of FGFR1 internal tandem duplication

R. Wilson, E. Mardis, S. McGrath, 2022, Cold Spring Harbor molecular case studies.

Nociceptor neurons direct goblet cells via a CGRP-RAMP1 axis to drive mucus production and gut barrier protection

X. Chen, Jun R Huh, Samantha J. Riesenfeld, 2022, Cell.

KRIT1‐positive hyperkeratotic cutaneous capillary venous malformation

Mai‐Lan Ho, Selene C. Koo, C. Cottrell, 2021, Pediatric dermatology.

Detection of brain somatic variation in epilepsy‐associated developmental lesions

R. Wilson, E. Mardis, D. Koboldt, 2021, medRxiv.

Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes

D. Koboldt, R. Hegele, S. Farhan, 2022, Human mutation.

Computed tomography of the pelvis following Cesarean section: normal appearances and acute complication

M. Ramalingam, Samantha Choi, P. Guntur, 2017 .

Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome

R. Wilson, D. Koboldt, P. White, 2021, Cold Spring Harbor molecular case studies.

Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome.

D. Koboldt, W. Lo, J. Carroll, 2022, Pediatric Neurology.