Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation von Flanagan, Sarah E., Xie, Weijia, Caswell, Richard, Damhuis, Annet, Vianey-Saban, Christine, Akcay, Teoman, Darendeliler, Feyza, Bas, Firdevs, Guven, Ayla, Siklar, Zeynep, Ocal, Gonul, Berberoglu, Merih, Murphy, Nuala, O’Sullivan, Maureen, Green, Andrew, Clayton, Peter E., Banerjee, Indraneel, Clayton, Peter T., Hussain, Khalid, Weedon, Michael N., Ellard, Sian

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Disorders affecting vitamin B6 metabolism von Wilson, Matthew P., Plecko, Barbara, Mills, Philippa B., Clayton, Peter T.

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Disorders affecting vitamin B 6 metabolism von Wilson, Matthew P, Plecko, Barbara, Mills, Philippa B, Clayton, Peter T

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Is susceptibility to severe COVID‐19 disease an inborn error of metabolism? von Clayton, Peter T.

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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy von Darin, Niklas, Reid, Emma, Prunetti, Laurence, Samuelsson, Lena, Husain, Ralf A., Wilson, Matthew, El Yacoubi, Basma, Footitt, Emma, Chong, W.K., Wilson, Louise C., Prunty, Helen, Pope, Simon, Heales, Simon, Lascelles, Karine, Champion, Mike, Wassmer, Evangeline, Veggiotti, Pierangelo, de Crécy-Lagard, Valérie, Mills, Philippa B., Clayton, Peter T.

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Inherited disorders of transition metal metabolism: an update von Clayton, Peter T.

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Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegans von Scott, Timothy A., Quintaneiro, Leonor M., Norvaisas, Povilas, Lui, Prudence P., Wilson, Matthew P., Leung, Kit-Yi, Herrera-Dominguez, Lucia, Sudiwala, Sonia, Pessia, Alberto, Clayton, Peter T., Bryson, Kevin, Velagapudi, Vidya, Mills, Philippa B., Typas, Athanasios, Greene, Nicholas D.E., Cabreiro, Filipe

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B6‐responsive disorders: A model of vitamin dependency von Clayton, Peter T.

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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man von Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria Luz, Dyack, Sarah, Price, Victoria, Rideout, Andrea, Gordon, Kevin, Wevers, Ron A., “Kling” Chong, W.K., Mills, Philippa B.

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The monoamine neurotransmitter disorders: an expanding range of neurological syndromes von Kurian, Manju A, Dr, Gissen, Paul, PhD, Smith, Martin, PhD, Heales, Simon JR, Prof, Clayton, Peter T, Prof

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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia von Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E., Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y., Simpson, Michael A., Chong, W. K., Jacques, Thomas S., Woltjer, Randy L., Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M., Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R., Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila A. M., Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S., Yoganathan, Sangeetha, Dale, Russell C., Thomas, Maya, Rihel, Jason, Bodamer, Olaf A., Enns, Caroline A., Hayflick, Susan J., Clayton, Peter T., Mills, Philippa B., Kurian, Manju A., Wilson, Stephen W.

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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia von Vaz, Frédéric M, McDermott, John H, Alders, Mariëlle, Wortmann, Saskia B, Kölker, Stefan, Pras-Raves, Mia L, Vervaart, Martin A T, van Lenthe, Henk, Luyf, Angela C M, Elfrink, Hyung L, Metcalfe, Kay, Cuvertino, Sara, Clayton, Peter E, Yarwood, Rebecca, Lowe, Martin P, Lovell, Simon, Rogers, Richard C, van Kampen, Antoine H C, Ruiter, Jos P N, Wanders, Ronald J A, Ferdinandusse, Sacha, van Weeghel, Michel, Engelen, Marc, Banka, Siddharth

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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease von Jenkinson, Emma M., Rehman, Atteeq U., Walsh, Tom, Clayton-Smith, Jill, Lee, Kwanghyuk, Morell, Robert J., Drummond, Meghan C., Khan, Shaheen N., Naeem, Muhammad Asif, Rauf, Bushra, Billington, Neil, Schultz, Julie M., Urquhart, Jill E., Lee, Ming K., Berry, Andrew, Hanley, Neil A., Mehta, Sarju, Cilliers, Deirdre, Clayton, Peter E., Kingston, Helen, Smith, Miriam J., Warner, Thomas T., Black, Graeme C., Trump, Dorothy, Davis, Julian R.E., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, King, Mary-Claire, Friedman, Thomas B., Newman, William G.

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Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study (HAPO FUS): Maternal Glycemia and Childhood Glucose Metabolism von Scholtens, Denise M, Kuang, Alan, Lowe, Lynn P, Hamilton, Jill, Lawrence, Jean M, Lebenthal, Yael, Brickman, Wendy J, Clayton, Peter, Ma, Ronald C, McCance, David, Tam, Wing Hung, Catalano, Patrick M, Linder, Barbara, Dyer, Alan R, Lowe, Jr, William L, Metzger, Boyd E

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Quantitative charge-tags for sterol and oxysterol analysis von Crick, Peter J, William Bentley, T, Abdel-Khalik, Jonas, Matthews, Ian, Clayton, Peter T, Morris, Andrew A, Bigger, Brian W, Zerbinati, Chiara, Tritapepe, Luigi, Iuliano, Luigi, Wang, Yuqin, Griffiths, William J

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A genetic approach to evaluation of short stature of undetermined cause von Murray, Philip G, Clayton, Peter E, Chernausek, Steven D

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Analytical strategies for characterization of oxysterol lipidomes: Liver X receptor ligands in plasma von Griffiths, William J., Crick, Peter J., Wang, Yuchen, Ogundare, Michael, Tuschl, Karin, Morris, Andrew A., Bigger, Brian W., Clayton, Peter T., Wang, Yuqin

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Disorders of bile acid synthesis von Clayton, Peter Theodore

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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease von Mazzacuva, Francesca, Mills, Philippa, Mills, Kevin, Camuzeaux, Stephane, Gissen, Paul, Nicoli, Elena‐Raluca, Wassif, Christopher, Vruchte, Danielle, Porter, Forbes D., Maekawa, Masamitsu, Mano, Nariyasu, Iida, Takashi, Platt, Frances, Clayton, Peter T.

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Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C von Maekawa, Masamitsu, Jinnoh, Isamu, Matsumoto, Yotaro, Narita, Aya, Mashima, Ryuichi, Takahashi, Hidenori, Iwahori, Anna, Saigusa, Daisuke, Fujii, Kumiko, Abe, Ai, Higaki, Katsumi, Yamauchi, Shosei, Ozeki, Yuji, Shimoda, Kazutaka, Tomioka, Yoshihisa, Okuyama, Torayuki, Eto, Yoshikatsu, Ohno, Kousaku, T Clayton, Peter, Yamaguchi, Hiroaki, Mano, Nariyasu

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