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1.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Stephenson, Sarah E M; Costain, Gregory; Blok, Laura E R; Silk, Michael A; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E; Dowling, James J; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z; Rodan, Lance H; Schwartz, Marc A; Picker, Jonathan; Lynch, Sally A; Gupta, Aditi; Rasmussen, Kristen J; Schimmenti, Lisa A; Klee, Eric W; Niu, Zhiyv; Agre, Katherine E; Chilton, Ilana; Chung, Wendy K; Revah-Politi, Anya; Au, P Y Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E; Sapp, Katie; Willems, Marjolaine; Bruel, Ange-Line; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E L; Zhu, Ying; Baker, Joshua J; Scheffer, Ingrid E.

Am J Hum Genet; 109(4): 601-617, 2022 04 07.

Artículo en Inglés | MEDLINE | ID: mdl-35395208

2.

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

Goodman, Lindsey D; Cope, Heidi; Nil, Zelha; Ravenscroft, Thomas A; Charng, Wu-Lin; Lu, Shenzhao; Tien, An-Chi; Pfundt, Rolph; Koolen, David A; Haaxma, Charlotte A; Veenstra-Knol, Hermine E; Wassink-Ruiter, Jolien S Klein; Wevers, Marijke R; Jones, Melissa; Walsh, Laurence E; Klee, Victoria H; Theunis, Miel; Legius, Eric; Steel, Dora; Barwick, Katy E S; Kurian, Manju A; Mohammad, Shekeeb S; Dale, Russell C; Terhal, Paulien A; van Binsbergen, Ellen; Kirmse, Brian; Robinette, Bethany; Cogné, Benjamin; Isidor, Bertrand; Grebe, Theresa A; Kulch, Peggy; Hainline, Bryan E; Sapp, Katherine; Morava, Eva; Klee, Eric W; Macke, Erica L; Trapane, Pamela; Spencer, Christopher; Si, Yue; Begtrup, Amber; Moulton, Matthew J; Dutta, Debdeep; Kanca, Oguz; Wangler, Michael F; Yamamoto, Shinya; Bellen, Hugo J; Tan, Queenie K-G.

Am J Hum Genet; 108(9): 1669-1691, 2021 09 02.

Artículo en Inglés | MEDLINE | ID: mdl-34314705

3.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Jeffries, Lauren; Mis, Emily K; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N; Carpier, Jean-Marie; Ji, Weizhen; Ionita, Cristian; Roy, Bhaskar; Morrow, Jon S; Darbinyan, Armine; Iyer, Krishna; Aul, Ritu B; Banka, Siddharth; Chao, Katherine R; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E; Mak, Bryan; McCormick, David; McGee, Elisabeth; Nelson, Stanley; Nguyen, Joanne; Nugent, Kimberly; Ortega, Lucy; Goodkin, Howard P; Roeder, Elizabeth; Roy, Sani; Sapp, Katie; Saade, Dimah; Sisodiya, Sanjay M; Stals, Karen; Towner, Shelley; Wilson, William; Khokha, Mustafa K; Bönnemann, Carsten G; Lucas, Carrie L; Lakhani, Saquib A.

Genet Med; 26(2): 101023, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-37947183

4.

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

Lasio, M Laura Duque; Leshinski, Angela C; Ducich, Nicole H; Flore, Leigh Anne; Lehman, April; Shur, Natasha; Jayakar, Parul B; Hainline, Bryan E; Basinger, Alice A; Wilson, William G; Diaz, George A; Erbe, Richard W; Koeberl, Dwight D; Vockley, Jerry; Bedoyan, Jirair K.

Mol Genet Metab; 139(2): 107605, 2023 06.

Artículo en Inglés | MEDLINE | ID: mdl-37207470

5.

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

Muir, Alison M; Gardner, Jennifer F; van Jaarsveld, Richard H; de Lange, Iris M; van der Smagt, Jasper J; Wilson, Golder N; Dubbs, Holly; Goldberg, Ethan M; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C; Brady, Angela F; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J; Wentzensen, Ingrid M; Schnur, Rhonda E; Monaghan, Kristin G; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klöckner, Chiara; Hoffman, Trevor L.

Genet Med; 23(5): 881-887, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33473207

6.

Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later.

Tramontana, Timothy F; Wilson, Theodore E; Hainline, Bryan E.

JIMD Rep; 59(1): 16-19, 2021 May.

Artículo en Inglés | MEDLINE | ID: mdl-33977025

7.

1H NMR metabolomics study of age profiling in children.

Gu, Haiwei; Pan, Zhengzheng; Xi, Bowei; Hainline, Bryan E; Shanaiah, Narasimhamurthy; Asiago, Vincent; Gowda, G A Nagana; Raftery, Daniel.

NMR Biomed; 22(8): 826-33, 2009 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-19441074

8.

Hyperammonemia in the ICU.

Clay, Alison S; Hainline, Bryan E.

Chest; 132(4): 1368-78, 2007 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-17934124

9.

An atypical case of Canavan disease with stroke-like presentation.

Delaney, Katherine E; Kralik, Stephen F; Hainline, Bryan E; Golomb, Meredith R.

Pediatr Neurol; 52(2): 218-21, 2015 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-25497124

10.

Neonatal Graves' disease associated with severe metabolic abnormalities.

Lewis, Katherine A; Engle, William; Hainline, Bryan E; Johnson, Nancy; Corkins, Mark; Eugster, Erica A.

Pediatrics; 128(1): e232-6, 2011 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-21646263

11.

Class selection of amino acid metabolites in body fluids using chemical derivatization and their enhanced 13C NMR.

Shanaiah, Narasimhamurthy; Desilva, M Aruni; Nagana Gowda, G A; Raftery, Michael A; Hainline, Bryan E; Raftery, Daniel.

Proc Natl Acad Sci U S A; 104(28): 11540-4, 2007 Jul 10.

Artículo en Inglés | MEDLINE | ID: mdl-17606902

12.

Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism.

Pan, Zhengzheng; Gu, Haiwei; Talaty, Nari; Chen, Huanwen; Shanaiah, Narasimhamurthy; Hainline, Bryan E; Cooks, R Graham; Raftery, Daniel.

Anal Bioanal Chem; 387(2): 539-49, 2007 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-16821030

13.

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.

Vladutiu, Georgirene D; Quackenbush, Elizabeth J; Hainline, Bryan E; Albers, Simone; Smail, David S; Bennett, Michael J.

J Pediatr; 141(5): 734-6, 2002 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-12410208

14.

Pyruvate carboxylase deficiency--insights from liver transplantation.

Nyhan, William L; Khanna, Ajai; Barshop, Bruce A; Naviaux, Robert K; Precht, Andrew F; Lavine, Joel E; Hart, Marquis A; Hainline, Bryan E; Wappner, Rebecca S; Nichols, Sharon; Haas, Richard H.

Mol Genet Metab; 77(1-2): 143-9, 2002.

Artículo en Inglés | MEDLINE | ID: mdl-12359142

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