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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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development von Cappello, Silvia, Gray, Mary J, Badouel, Caroline, Lange, Simona, Einsiedler, Melanie, Srour, Myriam, Chitayat, David, Hamdan, Fadi F, Jenkins, Zandra A, Morgan, Tim, Preitner, Nadia, Uster, Tami, Thomas, Jackie, Shannon, Patrick, Morrison, Victoria, Di Donato, Nataliya, Van Maldergem, Lionel, Neuhann, Teresa, Newbury-Ecob, Ruth, Swinkells, Marielle, Terhal, Paulien, Wilson, Louise C, Zwijnenburg, Petra J G, Sutherland-Smith, Andrew J, Black, Michael A, Markie, David, Michaud, Jacques L, Simpson, Michael A, Mansour, Sahar, McNeill, Helen, Götz, Magdalena, Robertson, Stephen P

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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis von Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M

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Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy von Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D’Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J., Brown, Matthew A., Beales, Philip L., Wicking, Carol, Duncan, Emma L., Mitchison, Hannah M.

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ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome von Glass, Graeme E., O'Hara, Justine, Canham, Natalie, Cilliers, Deirdre, Dunaway, David, Fenwick, Aimee L., Jeelani, Noor‐Owase, Johnson, David, Lester, Tracy, Lord, Helen, Morton, Jenny E. V., Nishikawa, Hiroshi, Noons, Peter, Schwiebert, Kemmy, Shipster, Caroleen, Taylor‐Beadling, Alison, Twigg, Stephen R. F., Vasudevan, Pradeep, Wall, Steven A., Wilkie, Andrew O. M., Wilson, Louise C.

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Obesity-Associated GNAS Mutations and the Melanocortin Pathway von Mendes de Oliveira, Edson, Keogh, Julia M, Talbot, Fleur, Henning, Elana, Ahmed, Rachel, Perdikari, Aliki, Bounds, Rebecca, Wasiluk, Natalia, Ayinampudi, Vikram, Barroso, Inês, Mokrosiński, Jacek, Jyothish, Deepthi, Lim, Sharon, Gupta, Sanjay, Kershaw, Melanie, Matei, Cristina, Partha, Praveen, Randell, Tabitha, McAulay, Antoinette, Wilson, Louise C, Cheetham, Tim, Crowne, Elizabeth C, Clayton, Peter, Farooqi, I. Sadaf

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Germline gain-of-function mutations of ALK disrupt central nervous system development von de Pontual, Loïc, Kettaneh, Dania, Gordon, Christopher T, Oufadem, Myriam, Boddaert, Nathalie, Lees, Melissa, Balu, Laurent, Lachassinne, Eric, Petros, Andy, Mollet, Julie, Wilson, Louise C, Munnich, Arnold, Brugière, Laurence, Delattre, Olivier, Vekemans, Michel, Etchevers, Heather, Lyonnet, Stanislas, Janoueix-Lerosey, Isabelle, Amiel, Jeanne

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Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency von Hay, Eleanor, Wilson, Louise C, Hoskins, Bethan, Samuels, Martin, Munot, Pinki, Rahman, Shamima

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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis von Fenwick, Aimee L., Kliszczak, Maciej, Cooper, Fay, Murray, Jennie, Sanchez-Pulido, Luis, Twigg, Stephen R.F., Goriely, Anne, McGowan, Simon J., Miller, Kerry A., Taylor, Indira B., Logan, Clare, Bozdogan, Sevcan, Danda, Sumita, Dixon, Joanne, Elsayed, Solaf M., Elsobky, Ezzat, Gardham, Alice, Hoffer, Mariette J.V., Koopmans, Marije, McDonald-McGinn, Donna M., Santen, Gijs W.E., Savarirayan, Ravi, de Silva, Deepthi, Vanakker, Olivier, Wall, Steven A., Wilson, Louise C., Yuregir, Ozge Ozalp, Zackai, Elaine H., Ponting, Chris P., Jackson, Andrew P., Wilkie, Andrew O.M., Niedzwiedz, Wojciech, Bicknell, Louise S.

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Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report von Brittain, Helen K., Feary, Johanna, Rosenthal, Mark, Spoudeas, Helen, Wilson, Louise C.

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Juvenile Paget’s disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype von Naot, Dorit, Wilson, Louise C., Allgrove, Jeremy, Adviento, Eleanor, Piec, Isabelle, Musson, David S., Cundy, Tim, Calder, Alistair D.

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Major skull manifestations of skeletal dysplasias — pictorial essay von Calder, Alistair D., Gaunt, Trevor, Hickson, Melissa, Mankad, Kshitij, Wilson, Louise C.

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Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis von Twigg, Stephen R F, Vorgia, Elena, McGowan, Simon J, Peraki, Ioanna, Fenwick, Aimée L, Sharma, Vikram P, Allegra, Maryline, Zaragkoulias, Andreas, Akha, Elham Sadighi, Knight, Samantha J L, Lord, Helen, Lester, Tracy, Izatt, Louise, Lampe, Anne K, Mohammed, Shehla N, Stewart, Fiona J, Verloes, Alain, Wilson, Louise C, Healy, Chris, Sharpe, Paul T, Hammond, Peter, Hughes, Jim, Taylor, Stephen, Johnson, David, Wall, Steven A, Mavrothalassitis, George, Wilkie, Andrew O M

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Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome von Ansari, Morad, Halachev, Mihail, Parry, David, Campos, Jose L., D’Souza, Elston N., Barnett, Christopher, Wilkie, Andrew O. M., Barnicoat, Angela, Patel, Chirag V., Sukarova-Angelovska, Elena, Girisha, Katta M., Firth, Helen V., Prescott, Katrina, Wilson, Louise C., McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally Ann, Joss, Shelagh, Holden, Simon T., Lam, Wayne K., Sisodiya, Sanjay M., Green, Andrew J., Poke, Gemma, Whiffin, Nicola, FitzPatrick, David R., Meynert, Alison

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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis von Hyder, Zerin, Calpena, Eduardo, Pei, Yang, Tooze, Rebecca S., Brittain, Helen, Twigg, Stephen R. F., Cilliers, Deirdre, Morton, Jenny E. V., McCann, Emma, Weber, Astrid, Wilson, Louise C., Douglas, Andrew G. L., McGowan, Ruth, Need, Anna, Bond, Andrew, Tavares, Ana Lisa Taylor, Thomas, Ellen R. A., Hill, Susan L., Deans, Zandra C., Boardman-Pretty, Freya, Caulfield, Mark, Scott, Richard H., Wilkie, Andrew O. M.

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Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non‐syndromic sagittal and metopic craniosynostosis von Walton, Isaac S., McCann, Emma, Weber, Astrid, Morton, Jenny E. V., Noons, Peter, Wilson, Louise C., Ching, Rosanna C., Cilliers, Deirdre, Johnson, David, Phipps, Julie M., Shears, Deborah J., Thomas, Gregory P. L., Wall, Steven A., Twigg, Stephen R. F., Wilkie, Andrew O. M.

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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia von Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.

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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis von Justice, Cristina M., Cuellar, Araceli, Bala, Krithi, Sabourin, Jeremy A., Cunningham, Michael L., Crawford, Karen, Phipps, Julie M., Zhou, Yan, Cilliers, Deirdre, Byren, Jo C., Johnson, David, Wall, Steven A., Morton, Jenny E. V., Noons, Peter, Sweeney, Elizabeth, Weber, Astrid, Rees, Katie E. M., Wilson, Louise C., Simeonov, Emil, Kaneva, Radka, Yaneva, Nadezhda, Georgiev, Kiril, Bussarsky, Assen, Senders, Craig, Zwienenberg, Marike, Boggan, James, Roscioli, Tony, Tamburrini, Gianpiero, Barba, Marta, Conway, Kristin, Sheffield, Val C., Brody, Lawrence, Mills, James L., Kay, Denise, Sicko, Robert J., Langlois, Peter H., Tittle, Rachel K., Botto, Lorenzo D., Jenkins, Mary M., LaSalle, Janine M., Lattanzi, Wanda, Wilkie, Andrew O. M., Wilson, Alexander F., Romitti, Paul A., Boyadjiev, Simeon A.

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation von Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M. A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E. V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R. F., Mathijssen, Irene M. J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O. M.

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A New Multisystem Disorder Caused by the Gαs Mutation p.F376V von Biebermann, Heike, Kleinau, Gunnar, Schnabel, Dirk, Bockenhauer, Detlef, Wilson, Louise C, Tully, Ian, Kiff, Sarah, Scheerer, Patrick, Reyes, Monica, Paisdzior, Sarah, Gregory, John W, Allgrove, Jeremy, Krude, Heiko, Mannstadt, Michael, Gardella, Thomas J, Dattani, Mehul, Jüppner, Harald, Grüters, Annette

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