Francisco A Perez

发表

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.

D. Nickerson, Joshua D. Smith, B. Mecham, 2014, American journal of human genetics.

Prevalence of Abnormal Magnetic Resonance Imaging Findings in Children with Persistent Symptoms after Pediatric Sports-Related Concussion.

S. Friedman, M. Vavilala, S. Browd, 2017, Journal of neurotrauma.

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.

Roxanne A. Van Hove, R. Saneto, J. V. Van Hove, 2019, Molecular genetics and metabolism.

Corticospinal tract atrophy and motor fMRI predict motor preservation after functional cerebral hemispherectomy.

J. Ojemann, G. Mathern, E. Novotny, 2018, Journal of neurosurgery. Pediatrics.

Primary choriocarcinoma of the bilateral basal ganglia presenting in a teenaged male

G. Ishak, B. Cole, J. Nixon, 2017, Radiology case reports.

Intraventricular B7-H3 CAR T Cells for Diffuse Intrinsic Pontine Glioma: Preliminary First-in-Human Bioactivity and Safety

Jeffrey R. Whiteaker, Matthew D. Dun, J. Ojemann, 2022, Cancer discovery.

Changes to pediatric brain tumors in 2021 World Health Organization classification of tumors of the central nervous system

G. Ishak, Jason N Wright, B. Cole, 2022, Pediatric Radiology.

Forehead location and large segmental pattern of facial port-wine stains predict risk of Sturge-Weber Syndrome.

Andrew Cooper, C. Amlie-Lefond, R. Sidbury, 2020, Journal of the American Academy of Dermatology.

Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities.

K. Patrick, R. Saneto, Francisco A Perez, 2021, Mitochondrion.

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants

S. Murray, A. Bauer, M. Cunningham, 2022, Disease models & mechanisms.

Extra-axial haemorrhages in young children with skull fractures: abuse or accident?

Jeffrey P. Otjen, K. Feldman, S. Boos, 2022, Archives of Disease in Childhood.

IMMU-02. LOCOREGIONAL HER2CAR T CELLS FOR PEDIATRIC CENTRAL NERVOUS SYSTEM TUMORS: PRECLINICAL EFFICACY TO TOLERABILITY IN FIRST PATIENT

M. Jensen, N. Vitanza, Julie R. Park, 2019, Neuro-Oncology.