TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton von Burren, Christine P., Caswell, Richard, Castle, Bruce, Welch, C. Ross, Hilliard, Tom N., Smithson, Sarah F., Ellard, Sian

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The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins von Xue, Jing-Yi, Wang, Zheng, Smithson, Sarah F., Burren, Christine P., Matsumoto, Naomichi, Nishimura, Gen, Ikegawa, Shiro, Guo, Long

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Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case... von Mason, Anna E., Grier, David, Smithson, Sarah F., Burren, Christine P., Gradhand, Elise

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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project von Blakes, Alexander J M, Wai, Htoo A, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F, Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew G L, Whiffin, Nicola, Baralle, Diana, Lord, Jenny

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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features von Low, Karen J, Ansari, Morad, Abou Jamra, Rami, Clarke, Angus, El Chehadeh, Salima, FitzPatrick, David R, Greenslade, Mark, Henderson, Alex, Hurst, Jane, Keller, Kory, Kuentz, Paul, Prescott, Trine, Roessler, Franziska, Selmer, Kaja K, Schneider, Michael C, Stewart, Fiona, Tatton-Brown, Katrina, Thevenon, Julien, Vigeland, Magnus D, Vogt, Julie, Willems, Marjolaine, Zonana, Jonathan, Study, D D D, Smithson, Sarah F

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Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly... von Tarpey, Patrick S., Raymond, F. Lucy, O’Meara, Sarah, Edkins, Sarah, Teague, Jon, Butler, Adam, Dicks, Ed, Stevens, Claire, Tofts, Calli, Avis, Tim, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Gray, Kristian, Halliday, Kelly, Harrison, Rachel, Hills, Katy, Jenkinson, Andrew, Jones, David, Menzies, Andrew, Mironenko, Tatiana, Perry, Janet, Raine, Keiran, Richardson, David, Shepherd, Rebecca, Small, Alexandra, Varian, Jennifer, West, Sofie, Widaa, Sara, Mallya, Uma, Moon, Jenny, Luo, Ying, Holder, Susan, Smithson, Sarah F., Hurst, Jane A., Clayton-Smith, Jill, Kerr, Bronwyn, Boyle, Jackie, Shaw, Marie, Vandeleur, Lucianne, Rodriguez, Jayson, Slaugh, Rachel, Easton, Douglas F., Wooster, Richard, Bobrow, Martin, Srivastava, Anand K., Stevenson, Roger E., Schwartz, Charles E., Turner, Gillian, Gecz, Jozef, Futreal, P. Andrew, Stratton, Michael R., Partington, Michael

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Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis von Taylor-Miller, Tashunka, Sivaprakasam, Ponni, Smithson, Sarah F., Steward, Colin G., Burren, Christine P.

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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans von Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.

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Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome) von Keogh, Steven J, McKee, Shane, Smithson, Sarah F, Grier, David, Steward, Colin G

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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies von Gripp, Karen W., Smithson, Sarah F., Scurr, Ingrid J., Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B., Wentzensen, Ingrid M., McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E. H., van Binsbergen, Ellen, Dinulos, Mary Beth P., Kaplan, Julie D., McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement von Schmidts, Miriam, Arts, Heleen H, Bongers, Ernie M H F, Yap, Zhimin, Oud, Machteld M, Antony, Dinu, Duijkers, Lonneke, Emes, Richard D, Stalker, Jim, Yntema, Jan-Bart L, Plagnol, Vincent, Hoischen, Alexander, Gilissen, Christian, Forsythe, Elisabeth, Lausch, Ekkehart, Veltman, Joris A, Roeleveld, Nel, Superti-Furga, Andrea, Kutkowska-Kazmierczak, Anna, Kamsteeg, Erik-Jan, Elçioğlu, Nursel, van Maarle, Merel C, Graul-Neumann, Luitgard M, Devriendt, Koenraad, Smithson, Sarah F, Wellesley, Diana, Verbeek, Nienke E, Hennekam, Raoul C M, Kayserili, Hulya, Scambler, Peter J, Beales, Philip L, Knoers, Nine VAM, Roepman, Ronald, Mitchison, Hannah M

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Dominant missense mutations in ABCC9 cause Cantú syndrome von Harakalova, Magdalena, van Harssel, Jeske J T, Terhal, Paulien A, van Lieshout, Stef, Duran, Karen, Renkens, Ivo, Amor, David J, Wilson, Louise C, Kirk, Edwin P, Turner, Claire L S, Shears, Debbie, Garcia-Minaur, Sixto, Lees, Melissa M, Ross, Alison, Venselaar, Hanka, Vriend, Gert, Takanari, Hiroki, Rook, Martin B, van der Heyden, Marcel A G, Asselbergs, Folkert W, Breur, Hans M, Swinkels, Marielle E, Scurr, Ingrid J, Smithson, Sarah F, Knoers, Nine V, van der Smagt, Jasper J, Nijman, Isaac J, Kloosterman, Wigard P, van Haelst, Mieke M, van Haaften, Gijs, Cuppen, Edwin

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Pneumothorax in two siblings: Is there a genetic basis for recurrence? von Henderson, John, BMBS, Narayan, Pradeep, FRCS, Smithson, Sarah F., FRCP, Morgan, Anthony, FRCS

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AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination von Edgerley, Katharine, Barnicoat, Angela, Offiah, Amaka C., Calder, Alistair D., Mankad, Kshitij, Thomas, Nicholas Simon, Bunyan, David J., Williams, Maggie, Buxton, Chris, Majumdar, Arniban, Vijayakumar, Kayal, Hilliard, Tom, Turner, James, Burren, Christine P., Monsell, Fergal, Smithson, Sarah F.

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Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome von Zhou, Yan, Koelling, Nils, Fenwick, Aimée L., McGowan, Simon J., Calpena, Eduardo, Wall, Steven A., Smithson, Sarah F., Wilkie, Andrew O.M., Twigg, Stephen R.F.

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Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications von Bargal, Ruth, Cormier-Daire, Valerie, Ben-Neriah, Ziva, Le Merrer, Martine, Sosna, Jacob, Melki, Judith, Zangen, David H., Smithson, Sarah F., Borochowitz, Zvi, Belostotsky, Ruth, Raas-Rothschild, Annick

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Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome von Ashraf, Tazeen, Vaina, Camelia, Giri, Dinesh, Burren, Christine P., James, Margaret, Offiah, Amaka C., Overton, Timothy, Baptista, Julia, Ellard, Sian, Smithson, Sarah F.

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A splice‐site variant in ANKRD11 associated with classical KBG syndrome von Low, Karen J., Hills, Alison, Williams, Maggie, Duff‐Farrier, Celia, McKee, Shane, Smithson, Sarah F.

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Clinical utility gene card for: Cantú syndrome von Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K

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Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcrip... von Ali, Asif, Christie, Paul T., Grigorieva, Irina V., Harding, Brian, Van Esch, Hilde, Ahmed, S. Faisal, Bitner-Glindzicz, Maria, Blind, Eberhard, Bloch, Catherine, Christin, Patricia, Clayton, Peter, Gecz, Jozef, Gilbert-Dussardier, Brigitte, Guillen-Navarro, Encarna, Hackett, Anna, Halac, Isil, Hendy, Geoffrey N., Lalloo, Fiona, Mache, Christoph J., Mughal, Zulf, Ong, Albert C.M., Rinat, Choni, Shaw, Nicholas, Smithson, Sarah F., Tolmie, John, Weill, Jacques, Nesbit, M. Andrew, Thakker, Rajesh V.

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