August Allocco
A5060941426- Fetal and Pediatric Neurological Disorders
- Cerebrospinal fluid and hydrocephalus
- Chromatin Remodeling and Cancer
- Genetic and Kidney Cyst Diseases
- Hedgehog Signaling Pathway Studies
- Vascular Malformations Diagnosis and Treatment
- Intracranial Aneurysms: Treatment and Complications
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Botulinum Toxin and Related Neurological Disorders
- Vascular Tumors and Angiosarcomas
- Pain Mechanisms and Treatments
- Meningioma and schwannoma management
- Neonatal Respiratory Health Research
- Vascular Malformations and Hemangiomas
- TGF-β signaling in diseases
- RNA regulation and disease
- Health and Medical Research Impacts
- Healthcare Systems and Technology
- Ocular Disorders and Treatments
- Diversity and Career in Medicine
- Neuroblastoma Research and Treatments
- MicroRNA in disease regulation
- Neurofibromatosis and Schwannoma Cases
Yale University
2018-2023
Oxford University Press (United Kingdom)
2020
Yale New Haven Health System
2018
Trigeminal neuralgia (TN) is a common, debilitating neuropathic face pain syndrome often resistant to therapy. The familial clustering of TN cases suggests that genetic factors play role in disease pathogenesis. However, no unbiased, large-scale genomic study has been performed date. Analysis 290 whole exome-sequenced probands, including 20 multiplex kindreds and 70 parent-offspring trios, revealed enrichment rare, damaging variants GABA receptor-binding genes cases. Mice engineered with...
Abstract Background Congenital hydrocephalus (CH) is a highly morbid disease that features enlarged brain ventricles and impaired cerebrospinal fluid homeostasis. Although early linkage or targeted sequencing studies in large multigenerational families have localized several genes for CH, the etiology of most CH cases remains unclear. Recent advances whole exome (WES) identified five new bona fide genes, implicating regulation neural stem cell fate pathogenesis. Nonetheless, majority cases,...
ATP1A3 encodes the α3 subunit of Na+/K+ ATPase, a fundamental ion-transporting enzyme. Primarily expressed in neurons, is mutated several autosomal dominant neurological diseases. To our knowledge, damaging recessive genotypes have never been associated with any human disease. Atp1a3 deficiency zebrafish results hydrocephalus; however, no known association exists between and congenital hydrocephalus (CH).We utilized whole-exome sequencing (WES), bioinformatics, computational modeling to...
Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery in children. Recent studies have implicated SMARCC1, a component of BRG1-associated factor (BAF) chromatin remodelling complex, as candidate congenital hydrocephalus gene. However, SMARCC1 variants not been systematically examined large patient cohort or conclusively linked with human syndrome. Moreover, hydrocephalus-associated functionally validated mechanistically studied vivo....
Pediatric midline tumors are devastating high-grade lesions with a dismal prognosis and no curative surgical options. Here, the authors report clinical presentation, management, whole-exome sequencing (WES), clonality analysis of patient radically resected H3K27M -mutant pineal parenchymal tumor (PPT) spine metastases consistent PPT intermediate differentiation (PPTID). They identified somatic mutations in H3F3A (H3K27M), FGFR1 , NF1 both original PPTID metastases. also found 12q...
In the past forty years, clinician-educators have become indispensable to academic medicine. Numerous clinician-educator-training programs exist within graduate medical education (GME) as clinician-educator tracks (CETs). However, there is a call for pipeline begin earlier. This work aims identify and characterize track-like (CETLs) available in undergraduate (UME). We developed an algorithm of 20 individual keyword queries search website each U.S. allopathic school CETLs. performed web...
Congenital hemangiomas are tumor-like vascular malformations with poorly understood pathogenesis. We report the case of a neonate massive congenital scalp hemangioma that required urgent neurosurgical removal on second day life because concern for high-flow arteriovenous shunting. Exome sequencing identified rare damaging de novo germline mutation in MYH9 (c.5308C>T, p.[Arg1770Cys]), encoding nonmuscle myosin IIA. has probability loss-of-function intolerance (pLI) score >0.99 and is highly...
INTRODUCTION: Vein of Galen malformations (VOGMs) are morbid arteriovenous malformations, with poorly described genetis. 1 Despite improvement in endovascular treatment, VOGM mortality remains high. 2 has been reported as a rare finding Capillary Malformation-Arteriovenous Malformation Syndrome (RASA1; OMIM #605384) and Hereditary Hemorrhagic Telangiectasia (ENG, ACVRL1; #187300, #600376). 3-4 Our previous work identified EPH receptor tyrosine kinase also playing role pathogenesis. 5 Here,...
Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery. A few familial forms of congenital hydrocephalus (CH) have been identified, but cause sporadic cases CH remains elusive. Recent studies implicated
Introduction:Expanding EMS agencies face many challenges pertaining to on-scene operations, administrative oversight, and sustainability.Specific that prompted change within our agency include a critical shortage of EMTs, $5000 budget deficit, inconsistent training probationary members, high incidence equipment deficiencies, delayed response times, unsafe scene conditions.Program Development & Implementation: Our has addressed these concerns using three-pronged approach tackling Operations,...
INTRODUCTION: Congenital Hydrocephalus (CH) affects 1 in 1000 live births and is treated with lifelong surgical cerebrospinal fluid (CSF) diversion substantial morbidity. Our group recently sequenced 180 probands CH identified 4 novel genes, all of which regulate neural stem cell (NSC) fate. Nonetheless, these genes account for just 10% studied cases. METHODS: We doubled the size our cohort through robust recruitment exome-sequenced 361 probands, including 216 case-parent trios. To study...
Phan, Duy BS; Jin, Sheng C; Weise, Stefan; Marini, Claudia; Dong, Weilai Kundishora, Adam MD; Torres-Fernandez, Lucia; Cuevas, Elisa; Hao, Le; Furey, Charuta G BA; Zeng, Xue; Jux, Bettina; Sousa, Andre; Liu, Fuchen; Kim, Suel-Kee; Li, Mingfeng; Yang, Yiying; Takeo, Yutaka; Foster, Daniel; Nelson-Williams, Carol; Allocco, August A Smith, Hannah; Dunbar, Ashley; Sullivan, William; Ha, Yonghyun; Selvaganesan, Kartiga; Sheth, Amar; DeSpenza, Tyrone Reeves, Benjamin; Goto, June; Marlier, Arnaud;...
Panchagnula, Shreyas; Jin, Sheng C; Dong, Weilai BS; Kundishora, Adam MD; Moreno-De-Luca, Andres; Furey, Charuta G BA; Allocco, August A Walker, Rebecca; Nelson-Williams, Carol; Smith, Hannah; Dunbar, Ashley; Conine, Sierra B Lu, Qiongshi; Zen, Xue; Sierant, Michael; Knight, James; Sullivan, William; Phan, Duy DeSpenza, Tyrone Reeves, Benjamin; Karimy, Jason K MS; Marlier, Arnaud; Castaldi, Christopher; Tikhonova, Irina; Li, Boyang; Peña;, Helena; Broach, Kabachelor, Edith M; Ssenyonga,...
Allocco, August A BS; Jin, Sheng C; Dong, Weilai Kundishora, Adam MD; Elsamadicy, Aladine A; Dunbar, Ashley; Reeves, Benjamin; Panchagnula, Shreyas; Nelson-Williams, Carol; Lifton, Richard P MD, PhD; Kahle, Kristopher T PhD Author Information
Allocco, August A BS; Kundishora, Adam MD; Viviano, Stephen; Deniz, Engin; Kahle, Kristopher T MD, PhD Author Information
INTRODUCTION: Arachnoid cysts (ACs) are the most common congenital intracranial lesions. While familial cases implicate genetic factors, their ultimate cause remains unknown. Herein, we describe a multi-omics approach to disease state characterization including traditional whole exome sequencing, integrative genomics with analytics of large bulk-RNA and single cell RNA sequencing (scRNAseq) data, novel phenomics technique using natural language processing Human Phenotypic Ontological (HPO)...