Search Results - "Di Scipio, Matteo"

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions by Man, Alice, Di Scipio, Matteo, Grewal, Shan, Suk, Yujin, Trinari, Elisabetta, Ejaz, Resham, Whitney, Robyn

“…The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell growth, proliferation, and survival. Upregulation of the mTOR pathway…”
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A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets by Di Scipio, Matteo, Khan, Mohammad, Mao, Shihong, Chong, Michael, Judge, Conor, Pathan, Nazia, Perrot, Nicolas, Nelson, Walter, Lali, Ricky, Di, Shuang, Morton, Robert, Petch, Jeremy, Paré, Guillaume

“…Identification of gene-by-environment interactions (GxE) is crucial to understand the interplay of environmental effects on complex traits. However, current…”
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A method to estimate the contribution of rare coding variants to complex trait heritability by Pathan, Nazia, Deng, Wei Q., Di Scipio, Matteo, Khan, Mohammad, Mao, Shihong, Morton, Robert W., Lali, Ricky, Pigeyre, Marie, Chong, Michael R., Paré, Guillaume

“…It has been postulated that rare coding variants (RVs; MAF < 0.01) contribute to the “missing” heritability of complex traits. We developed a framework, the…”
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Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization by Di Scipio, Matteo, Tavares, Erika, Deshmukh, Shriya, Audo, Isabelle, Green-Sanderson, Kit, Zubak, Yuliya, Zine-Eddine, Fayçal, Pearson, Alexander, Vig, Anjali, Tang, Chen Yu, Mollica, Antonio, Karas, Jonathan, Tumber, Anupreet, Yu, Caberry W, Billingsley, Gail, Wilson, Michael D, Zeitz, Christina, Héon, Elise, Vincent, Ajoy

“…To demonstrate the effectiveness of combining retinal phenotyping and focused variant filtering from genome sequencing (GS) in identifying deep intronic…”
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Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10 by Grudzinska Pechhacker, Monika K, Jacobson, Samuel G, Drack, Arlene V, Scipio, Matteo Di, Strubbe, Ine, Pfeifer, Wanda, Duncan, Jacque L, Dollfus, Helene, Goetz, Nathalie, Muller, Jean, Vincent, Andrea L, Aleman, Tomas S, Tumber, Anupreet, Van Cauwenbergh, Caroline, De Baere, Elfride, Bedoukian, Emma, Leroy, Bart P, Maynes, Jason T, Munier, Francis L, Tavares, Erika, Saleh, Eman, Vincent, Ajoy, Heon, Elise

“…The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to…”
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Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa by Dvaladze, Anna, Tavares, Erika, Di Scipio, Matteo, Nimmo, Graeme, Grudzinska‐Pechhacker, Monika K., Paton, Tara, Tumber, Anupreet, Li, Shuning, Eileen, Christabel, Ertl‐Wagner, Birgit, Mamak, Eva, Hoffmann, Georg, Marshall, Christian R., Haas, Dorothea, Mayatepek, Ertan, Schulze, Andreas, Heon, Elise, Vincent, Ajoy

“…Non‐syndromic retinitis pigmentosa (NSRP) is a clinically and genetically heterogeneous group of disorders characterized by progressive degeneration of the rod…”
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COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage by Tabbarah, Sami, Tavares, Erika, Charish, Jason, Vincent, Ajoy, Paterson, Andrew, Di Scipio, Matteo, Yin, Yue, Mendoza-Londono, Roberto, Maynes, Jason, Heon, Elise, Monnier, Philippe P.

“…Leber congenital amaurosis (LCA), a form of autosomal recessive severe early-onset retinal degeneration, is an important cause of childhood blindness. This may…”
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CDC42 regulates the expression of superficial zone molecules in part through the actin cytoskeleton and myocardin‐related transcription factor‐A by Delve, Elizabeth, Parreno, Justin, Co, Vivian, Wu, Po‐Han, Chong, Jasmine, Di Scipio, Matteo, Kandel, Rita A.

“…ABSTRACT Osteoarthritis (OA) is a degenerative disease that initially manifests as loss of the superficial zone (SZ) of articular cartilage. SZ chondrocytes…”
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P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype by Man, Alice, Di Scipio, Matteo, Hough, Rebecca, McConkey, Haley, Diehl, Eric, Marshall, Christian, Sadikovic, Bekim, Ejaz, Resham

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Genetic Determinants of Vascular Dementia by Pathan, Nazia, Kharod, Muskaan Kaur, Nawab, Sajjha, Di Scipio, Matteo, Paré, Guillaume, Chong, Michael

“…Vascular dementia (VaD) is a prevalent form of cognitive impairment with underlying vascular etiology. In this review, we examine recent genetic advancements…”
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What Causes Premature Coronary Artery Disease? by Le, Ann, Peng, Helen, Golinsky, Danielle, Di Scipio, Matteo, Lali, Ricky, Paré, Guillaume

“…Purpose of Review This review provides an overview of genetic and non-genetic causes of premature coronary artery disease (pCAD). Recent Findings pCAD refers…”
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Biomarkers of agitation and aggression in Alzheimer's disease: A systematic review by Ruthirakuhan, Myuri, Lanctôt, Krista L., Di Scipio, Matteo, Ahmed, Mehnaz, Herrmann, Nathan

“…Agitation is one of the most challenging neuropsychiatric symptoms to treat in Alzheimer's disease and has significant implications for patient and caregiver…”
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Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members by Man, Alice, Di Scipio, Matteo, Dale, Breanne, Marques, Paula Teixeira, Birbeck, Cynthia Sloan, Jain, Puneet, Trinari, Elisabetta, Ejaz, Resham, Whitney, Robyn

“…Tuberous sclerosis complex (TSC) is a multisystemic disorder caused by inactivating variants in the mTOR pathway inhibitor genes TSC1 and TSC2. Individuals…”
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Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature by Man, Alice, Di Scipio, Matteo, McConkey, Haley, Hough, Rebecca, Stein, Nina, Diehl, Eric, Marshall, Christian R, Sadikovic, Bekim, Ejaz, Resham

“…Disorders of developmental delay can occur from pathogenic variants in genes responsible for epigenetic regulation. Heterozygous and biallelic pathogenic…”
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CRB1 -related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency by Grudzinska Pechhacker, Monika K., Di Scipio, Matteo, Vig, Anjali, Tumber, Anupreet, Roslin, Nicole, Tavares, Erika, Vincent, Ajoy, Hèon, Elise

“…BACKGROUNDS-adenosylhomocysteine hydrolase deficiency due to pathologic variants in AHCY gene is a rare neurometabolic disease for which no eye phenotype has…”
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Autosomal dominant macular dystrophy linked to a chromosome 17 tandem duplication by Adele, Rabiat, Hussein, Rowaida, Tavares, Erika, Ahmed, Kashif, Di Scipio, Matteo, Charish, Jason, Liang, Minggao, Monis, Simon, Tumber, Anupreet, Chen, Xiaoyan, Paton, Tara A, Roslin, Nicole M, Eileen, Christabel, Ivakine, Evgueni, Sunny, Nishanth E, Wilson, Michael D, Campos, Eric, Rajala, Raju Vs, Maynes, Jason T, Monnier, Philippe P, Paterson, Andrew D, Héon, Elise, Vincent, Ajoy

“…Hereditary Macular Dystrophies (HMDs) are a genetically diverse group of disorders that cause central vision loss due to photoreceptor and retinal pigment…”
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CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency by Grudzinska Pechhacker, Monika K., Di Scipio, Matteo, Vig, Anjali, Tumber, Anupreet, Roslin, Nicole, Tavares, Erika, Vincent, Ajoy, Hèon, Elise

“…S-adenosylhomocysteine hydrolase deficiency due to pathologic variants in AHCY gene is a rare neurometabolic disease for which no eye phenotype has been…”
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