Search Results - "Gallant, Natalie"

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases by Lee, Hane, Huang, Alden Y., Wang, Lee-kai, Yoon, Amanda J., Renteria, Genecee, Eskin, Ascia, Signer, Rebecca H., Dorrani, Naghmeh, Nieves-Rodriguez, Shirley, Wan, Jijun, Douine, Emilie D., Woods, Jeremy D., Dell’Angelica, Esteban C., Fogel, Brent L., Martin, Martin G., Butte, Manish J., Parker, Neil H., Wang, Richard T., Shieh, Perry B., Wong, Derek A., Gallant, Natalie, Singh, Kathryn E., Tavyev Asher, Y. Jane, Sinsheimer, Janet S., Krakow, Deborah, Loo, Sandra K., Allard, Patrick, Papp, Jeanette C., Palmer, Christina, Martinez-Agosto, Julian A., Nelson, Stanley F.

“…We investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic…”
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Reciprocal Requirements for EDA/EDAR/NF-κB and Wnt/β-Catenin Signaling Pathways in Hair Follicle Induction by Zhang, Yuhang, Tomann, Philip, Andl, Thomas, Gallant, Natalie M., Huelsken, Joerg, Jerchow, Boris, Birchmeier, Walter, Paus, Ralf, Piccolo, Stefano, Mikkola, Marja L., Morrisey, Edward E., Overbeek, Paul A., Scheidereit, Claus, Millar, Sarah E., Schmidt-Ullrich, Ruth

“…Wnt/β-catenin and NF-κB signaling mechanisms provide central controls in development and disease, but how these pathways intersect is unclear. Using hair…”
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P288: Mosaic genome-wide paternal uniparental isodisomy and PAH pathogenic variant identified in an infant with macrosomia, omphalocele, hepatomegaly and cardiac anomalies by Gilmartin, Allissia, Chao, Elizabeth, Singh, Kathryn, Gallant, Natalie

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Wnt/β-catenin signaling directs multiple stages of tooth morphogenesis by Liu, Fei, Chu, Emily Y., Watt, Brenda, Zhang, Yuhang, Gallant, Natalie M., Andl, Thomas, Yang, Steven H., Lu, Min-Min, Piccolo, Stefano, Schmidt-Ullrich, Ruth, Taketo, Makoto M., Morrisey, Edward E., Atit, Radhika, Dlugosz, Andrzej A., Millar, Sarah E.

“…Wnt/β-catenin signaling plays key roles in tooth development, but how this pathway intersects with the complex interplay of signaling factors regulating dental…”
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ALG11‐CDG syndrome: Expanding the phenotype by Haanpää, Maria K., Ng, Bobby G., Gallant, Natalie M., Singh, Kathryn E., Brown, Candida, Kimonis, Virginia, Freeze, Hudson H., Muller, Eric A.

“…ALG11‐Congenital Disorder of Glycosylation (ALG11‐CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism…”
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Hyperammonemia From Ureaplasma Infection in an Immunocompromised Child by Placone, Nicholas, Kao, Roy L., Kempert, Pamela, Ruiz, Maritza E., Casillas, Jacqueline N., Okada, Maki, Gibson, James B., Maggi, Carlos, O’Brien, Kevin, Nattiv, Roy, Gallant, Natalie M., Abrams, Stephanie H.

“…Idiopathic hyperammonemia is a rare, poorly understood, and often lethal condition that has been described in immunocompromised patients. This report describes…”
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De novo loss‐of‐function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies by Mullegama, Sureni V., Klein, Steven D., Mulatinho, Milene V., Senaratne, Tharanga Niroshini, Singh, Kathryn, Nguyen, Dzung C., Gallant, Natalie M., Strom, Samuel P., Ghahremani, Shahnaz, Rao, Nagesh P., Martinez‐Agosto, Julian A.

“…The cohesin complex is an evolutionarily conserved multi‐subunit protein complex which regulates sister chromatid cohesion during mitosis and meiosis…”
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Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database by Lam, Christina, Carter, Jennifer M., Cederbaum, Stephen D., Neidich, Julie, Gallant, Natalie M., Lorey, Fred, Feuchtbaum, Lisa, Wong, Derek A.

“…There are considerable uncertainty and debate regarding all aspects of newborn screen-positive cases of 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD),…”
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The protective effect of SARS-CoV-2 antibodies in Scottish healthcare workers by Abo-Leyah, Hani, Gallant, Stephanie, Cassidy, Diane, Giam, Yan Hui, Killick, Justin, Marshall, Beth, Hay, Gordon, Snowdon, Caroline, Hothersall, Eleanor J, Pembridge, Thomas, Strachan, Rachel, Gallant, Natalie, Parcell, Benjamin J, George, Jacob, Furrie, Elizabeth, Chalmers, James D

“…Healthcare workers (HCWs) are believed to be at increased risk of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. It is not known to…”
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Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California by Gallant, Natalie M., Leydiker, Karen, Tang, Hao, Feuchtbaum, Lisa, Lorey, Fred, Puckett, Rebecca, Deignan, Joshua L., Neidich, Julie, Dorrani, Naghmeh, Chang, Erica, Barshop, Bruce A., Cederbaum, Stephen D., Abdenur, Jose E., Wang, Raymond Y.

“…Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation with highly variable…”
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Wnt-β-catenin signaling initiates taste papilla development by Andl, Thomas, Dlugosz, Andrzej A, Gallant, Natalie M, Thirumangalathu, Shoba, Reddy, Seshamma T, Yang, Steven H, Taketo, Makoto M, Millar, Sarah E, Stoick-Cooper, Cristi L, Moon, Randall T, Liu, Fei, Barlow, Linda A

“…Fungiform taste papillae form a regular array on the dorsal tongue. Taste buds arise from papilla epithelium and, unusually for epithelial derivatives, synapse…”
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Neurofibromatosis type 1: a case highlighting pulmonary and other rare clinical manifestations by Nguyen, Khoa Anh, Elnaggar, Mohamed, Gallant, Natalie M., Tanios, Maged

“…Neurofibromatosis type 1 (NF1)-related lung disease is a rare but increasingly recognised, high morbidity associated feature of the condition. We present a…”
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Novel liver findings in Ornithine Transcarbamylase Deficiency due to Xp11.4-p21.1 microdeletion by Gallant, Natalie M., Gui, Dorina, Lassman, Charles R., Yong, William H., Teitell, Michael, Mandelker, Diana, Lorey, Fred, Martinez-Agosto, Julian A., Quintero-Rivera, Fabiola

“…Ornithine transcarbamylase deficiency (OTCD, OMIM 311250), the most common urea cycle disorder, results in impaired synthesis of citrulline from carbamoyl…”
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When moments matter: Finding answers with rapid exome sequencing by Powis, Zöe, Farwell Hagman, Kelly D., Blanco, Kirsten, Au, Margaret, Graham, John M., Singh, Kathryn, Gallant, Natalie, Randolph, Linda M., Towne, Meghan, Hunter, Jesse, Shinde, Deepali N., Palmaer, Erika, Schoenfeld, Brian, Tang, Sha

“…Background When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine…”
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Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion by Gallant, Natalie M., Baldwin, Erin, Salamon, Noriko, Dipple, Katrina M., Quintero‐Rivera, Fabiola

“…The pontocerebellar hypoplasias (PCHs) are a group of clinically variable disorders characterized by abnormally small cerebellum and brainstem, generally…”
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A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome by Fan, Yuxin, Steller, Jon, Gonzalez, Iris L., Kulik, Wim, Fox, Michelle, Chang, Richard, Westerfield, Brandy A., Batra, Anjan S., Wang, Raymond Yu Jeang, Gallant, Natalie M., Pena, Liana S., Wang, Hu, Huang, Taosheng, Bhuta, Sunita, Penny, Daniel J., McCabe, Edward R., Kimonis, Virginia E.

“…Objective: Barth syndrome is an X-linked recessive disorder characterized by dilated cardiomyopathy, neutropenia, 3-methylglutaconic aciduria, abnormal…”
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Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders by Murali, Chaya N., Barber, John R., McCarter, Robert, Zhang, Anqing, Gallant, Natalie, Simpson, Kara, Dorrani, Naghmeh, Wilkening, Greta N., Hays, Ron D., Lichter-Konecki, Uta, Burrage, Lindsay C., Nagamani, Sandesh C.S.

“…Individuals with urea cycle disorders (UCDs) may develop recurrent hyperammonemia, episodic encephalopathy, and neurological sequelae which can impact…”
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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies by Ji, Jianling, Lee, Hane, Argiropoulos, Bob, Dorrani, Naghmeh, Mann, John, Martinez-Agosto, Julian A, Gomez-Ospina, Natalia, Gallant, Natalie, Bernstein, Jonathan A, Hudgins, Louanne, Slattery, Leah, Isidor, Bertrand, Le Caignec, Cédric, David, Albert, Obersztyn, Ewa, Wiśniowiecka-Kowalnik, Barbara, Fox, Michelle, Deignan, Joshua L, Vilain, Eric, Hendricks, Emily, Horton Harr, Margaret, Noon, Sarah E, Jackson, Jessi R, Wilkens, Alisha, Mirzaa, Ghayda, Salamon, Noriko, Abramson, Jeff, Zackai, Elaine H, Krantz, Ian, Innes, A Micheil, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola

“…Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A ) is a highly conserved gene located in the Down syndrome critical region. It has an…”
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Cover Image, Volume 179A, Number 3, March 2019 by Haanpää, Maria K., Ng, Bobby G., Gallant, Natalie M., Singh, Kathryn E., Brown, Candida, Kimonis, Virginia, Freeze, Hudson H., Muller, Eric A.

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Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening by Wong, Derek, Tortorelli, Silvia, Bishop, Lisa, Sellars, Elizabeth A., Schimmenti, Lisa A., Gallant, Natalie, Prada, Carlos E., Hopkin, Robert J., Leslie, Nancy D., Berry, Susan A., Rosenblatt, David S., Fair, Amy L., Matern, Dietrich, Raymond, Kimiyo, Oglesbee, Devin, Rinaldo, Piero, Gavrilov, Dimitar

“…Purpose: We evaluated the clinical outcome in homocysteine remethylation disorders following newborn screening (NBS) and initiation of early specific…”
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