NFDI4DS | UHH-SEMS - Publication Details

Precilla D’Souza

ORCID: 0009-0007-0395-1011

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A5102894901

Research Areas

Genomics and Rare Diseases
Genetics and Neurodevelopmental Disorders
RNA Research and Splicing
Congenital heart defects research
Lysosomal Storage Disorders Research
Metabolism and Genetic Disorders
RNA modifications and cancer
Cellular transport and secretion
Erythrocyte Function and Pathophysiology
RNA and protein synthesis mechanisms
Genomic variations and chromosomal abnormalities
Congenital Ear and Nasal Anomalies
RNA regulation and disease
Cancer-related gene regulation
Mitochondrial Function and Pathology
Ethics in Clinical Research
Genetic Associations and Epidemiology
interferon and immune responses
Fetal and Pediatric Neurological Disorders
Endoplasmic Reticulum Stress and Disease
Advanced Breast Cancer Therapies
Hedgehog Signaling Pathway Studies
ATP Synthase and ATPases Research
Immunotherapy and Immune Responses
Biosimilars and Bioanalytical Methods

National Human Genome Research Institute
2019-2025

National Institutes of Health
2020-2021

Thomson Reuters (United Kingdom)
2014

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

OPENALEX - Publications

Elena‐Raluca Nicoli Mary Weston Mary E. Hackbarth Alissa J. Becerril Austin Larson and 95 more

10.1016/j.ajhg.2019.04.008 article EN publisher-specific-oa The American Journal of Human Genetics 2019-05-30

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

OPENALEX - Publications

Victoria E. Rael Julian A. Yano John Huizar Leianna C. Slayden Madeleine A. Weiss and 95 more

Nucleic acid-sensing Toll-like receptors (TLR) 3, 7/8, and 9 are key innate immune sensors whose activities must be tightly regulated to prevent systemic autoimmune or autoinflammatory disease virus-associated immunopathology. Here, we report a systematic scanning-alanine mutagenesis screen of all cytosolic luminal residues the TLR chaperone protein UNC93B1, which identified both negative positive regulatory regions affecting TLR3, TLR7, TLR9 responses. We subsequently two families harboring...

10.1084/jem.20232005 article EN cc-by The Journal of Experimental Medicine 2024-05-23

A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis

OPENALEX - Publications

Connor Lewis Jean M. Johnston Precilla D’Souza Josephine Kolstad Christopher Zoppo and 9 more

Background: Volumetric analysis and segmentation of magnetic resonance imaging (MRI) data is an important tool for evaluating neurological disease progression neurodevelopment. Fully automated pipelines offer faster more reproducible results. However, since these were trained on or run based atlases consisting neurotypical controls, it to evaluate how accurate methods are neurodegenerative diseases. In this study, we compared five fully pipelines, including FSL, Freesurfer, volBrain, SPM12,...

10.3390/neurosci6020031 article EN cc-by NeuroSci 2025-04-03

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

OPENALEX - Publications

Monika Oláhová Wan Hee Yoon Kyle Thompson Sharayu Jangam Liliana Fernández and 95 more

ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a of synthase and plays an important role in coupling proton translocation production. Here, we describe two individuals, each with homozygous missense variants ATP5F1D, who presented episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, hyperammonemia. Subject 1, for c.245C>T (p.Pro82Leu), recurrent decompensation starting the neonatal period, subject 2, c.317T>G (p.Val106Gly),...

10.1016/j.ajhg.2018.01.020 article EN cc-by The American Journal of Human Genetics 2018-02-23

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

OPENALEX - Publications

Vandana Shashi Kelly Schoch Rebecca C. Spillmann Heidi Cope Queenie K.‐G. Tan and 95 more

10.1038/s41436-018-0044-2 article EN publisher-specific-oa Genetics in Medicine 2018-06-15

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

OPENALEX - Publications

Burak Tepe Erica L. Macke Marcello Niceta Monika Weisz Hubshman Oguz Kanca and 95 more

10.1016/j.ajhg.2023.03.012 article EN publisher-specific-oa The American Journal of Human Genetics 2023-04-12

De novovariants in the non-coding spliceosomal snRNA geneRNU4-2are a frequent cause of syndromic neurodevelopmental disorders

OPENALEX - Publications

Yuyang Chen Ruebena Dawes Hyung Chul Kim Sarah L. Stenton Susan Walker and 92 more

Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify RNA RNU4-2 as a novel syndromic NDD gene. encodes U4 small nuclear (snRNA), which is critical component U4/U6.U5 tri-snRNP complex major spliceosome 2 We an 18 bp region mapping two...

10.1101/2024.04.07.24305438 preprint EN cc-by medRxiv (Cold Spring Harbor Laboratory) 2024-04-08

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

OPENALEX - Publications

Oguz Kanca Jonathan C. Andrews Pei-Tseng Lee Chirag Patel Stephen R. Braddock and 95 more

10.1016/j.ajhg.2019.06.014 article EN publisher-specific-oa The American Journal of Human Genetics 2019-07-18

TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system

OPENALEX - Publications

Shyam K. Akula Jack H. Marciano Youngshin Lim David Exposito-Alonso Norma K. Hylton and 95 more

Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh remain poorly understood. Exome sequencing families with polymicrogyria (disordered cortical folding) revealed individuals biallelic deleterious variants in TMEM161B , which encodes a multi-pass transmembrane protein unknown function. Tmem161b null mice demonstrated holoprosencephaly, craniofacial midline defects, eye and spinal cord patterning changes...

10.1073/pnas.2209964120 article EN cc-by Proceedings of the National Academy of Sciences 2023-01-20

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

OPENALEX - Publications

Karen Knapp Rosie Sullivan Jennie Murray Grégory Gimenez Pamela Arn and 6 more

Material Linked-read whole genome sequencing (WGS) presents a new opportunity for cost-efficient singleton in place of traditional trio-based designs while generating informative-phased variants, effective recessive disorders when parental DNA is unavailable. Methods We have applied linked-read WGS to identify novel causes Meier-Gorlin syndrome (MGORS), condition recognised by short stature, microtia and patella hypo/aplasia. There are eight genes associated with MGORS date, all encoding...

10.1136/jmedgenet-2019-106396 article EN cc-by Journal of Medical Genetics 2019-11-29

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

OPENALEX - Publications

Lindsay C. Burrage John J. Reynolds Nissan Vida Baratang Jennifer B. Phillips Jeremy Wegner and 95 more

10.1016/j.ajhg.2019.01.007 article EN publisher-specific-oa The American Journal of Human Genetics 2019-02-14

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

OPENALEX - Publications

Shilpa N. Kobren Dustin Baldridge Matt Velinder Joel B. Krier Kimberly LeBlanc and 95 more

Genomic sequencing has become an increasingly powerful and relevant tool to be leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions. Although computational tools incorporated into diagnostic workflows this task are continually evolving improving, we nevertheless sought investigate commonalities across processing reveal consensus standard practice highlight exploratory analyses where technical theoretical method improvements would most impactful.

10.1038/s41436-020-01084-8 article EN cc-by Genetics in Medicine 2021-02-13

Volumetric magnetic resonance imaging and diffusion tensor imaging metrics correlate with clinical outcomes following gene therapy in GM1 gangliosidosis patients

OPENALEX - Publications

Connor Lewis Zeynep Vardar Jean M. Johnston Precilla D’Souza Mohammed Salman Shazeeb and 2 more

10.1016/j.ymgme.2024.108833 article EN Molecular Genetics and Metabolism 2025-01-30

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

OPENALEX - Publications

Felix Marbach Georgi Stoyanov Florian Erger Constantine A. Stratakis Nikolaos Settas and 95 more

We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability autism spectrum disorder who carry heterozygous missense variants PRKAR1B gene, which encodes R1β subunit cyclic AMP-dependent protein kinase A (PKA).

10.1038/s41436-021-01152-7 article EN cc-by Genetics in Medicine 2021-04-08

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

OPENALEX - Publications

Aashim Bhatia Bret C. Mobley Joy D. Cogan Mary Koziura Elly Brokamp and 95 more

10.1016/j.clinimag.2019.06.010 article EN Clinical Imaging 2019-06-21

Participation in a national diagnostic research study: assessing the patient experience

OPENALEX - Publications

Lindsay Rosenfeld Kimberly LeBlanc Anna Nagy Braeden K. Ego Maria T. Acosta and 95 more

Abstract Introduction The Undiagnosed Diseases Network (UDN), a clinical research study funded by the National Institutes of Health, aims to provide answers for patients with undiagnosed conditions and generate knowledge about underlying disease mechanisms. UDN evaluations involve collaboration between clinicians researchers go beyond what is possible in settings. While medical outcomes have been explored, this first formal assessment patient caregiver experience. Methods We invited...

10.1186/s13023-023-02695-5 article EN cc-by Orphanet Journal of Rare Diseases 2023-04-10

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

OPENALEX - Publications

Meghan C. Halley Jennifer L. Young Charis Tang Kevin Mintz Sawyer Lucas-Griffin and 95 more

10.1016/j.jpeds.2023.113537 article EN publisher-specific-oa The Journal of Pediatrics 2023-06-03

eP259: A phase 1/2 trial of AXO-AAV-GM1 gene therapy for the treatment of infantile- and juvenile-onset GM1 gangliosidosis

OPENALEX - Publications

Cynthia J. Tift Precilla D’Souza Jean M. Johnston Maria Acosta Elena‐Raluca Nicoli and 10 more

10.1016/j.gim.2022.01.294 article EN publisher-specific-oa Genetics in Medicine 2022-03-01

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