Clinical overlap of PHACE and LUMBAR syndromes by Davenport, Rachael, Su, John C., Nathalie, Janice, Richmond, Christopher M., Yang Tan, Tiong, Robertson, Susan J.

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Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders by Dillon, Oliver James, Lunke, Sebastian, Stark, Zornitza, Yeung, Alison, Thorne, Natalie, Gaff, Clara, White, Susan M, Tan, Tiong Yang

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Genomic testing for differences of sex development: Practices and perceptions of clinicians by Atlas, Gabby, Hanna, Chloe, Tan, Tiong Yang, Nisselle, Amy, Tucker, Elena, Ayers, Katie, Sinclair, Andrew, O'Connell, Michele A.

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Developmental and genetic perspectives on Pierre Robin sequence by Tan, Tiong Yang, Kilpatrick, Nicky, Farlie, Peter G.

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A dyadic approach to the delineation of diagnostic entities in clinical genomics by Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

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A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis by Tan, Tiong Yang, Lunke, Sebastian, Chong, Belinda, Phelan, Dean, Fanjul-Fernandez, Miriam, Marum, Justine E, Kumar, Vanessa Siva, Stark, Zornitza, Yeung, Alison, Brown, Natasha J, Stutterd, Chloe, Delatycki, Martin B, Sadedin, Simon, Martyn, Melissa, Goranitis, Ilias, Thorne, Natalie, Gaff, Clara L, White, Susan M

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The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome by Fennell, Andrew Paul, Baxter, Anne Elizabeth, Berkovic, Samuel Frank, Ellaway, Carolyn Jane, Forwood, Caitlin, Hildebrand, Michael Stephen, Kumble, Smitha, McKeown, Colina, Mowat, David, Poke, Gemma, Rajagopalan, Sulekha, Regan, Brigid M., Scheffer, Ingrid Eileen, Stark, Zornitza, Stutterd, Chloe Alice, Tan, Tiong Yang, Wilkins, Ella Jane, Yeung, Alison, Hunter, Matthew Frank

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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis by Bennett, James T., Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E., Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J.M., Lindhurst, Marjorie J., Christensen, Katherine M., Braddock, Stephen R., Brandling-Bennett, Heather, Hennekam, Raoul C.M., Chung, Brian, Lehman, Anna, Su, John, Ng, SuYuen, Amor, David J., Majewski, Jacek, Biesecker, Les G., Boycott, Kym M., Dobyns, William B., O’Driscoll, Mark, Moog, Ute, McDonell, Laura M.

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The cell biology and molecular genetics of Müllerian duct development by Roly, Zahida Yesmin, Backhouse, Brendan, Cutting, Andrew, Tan, Tiong Yang, Sinclair, Andrew H., Ayers, Katie L., Major, Andrew T., Smith, Craig A.

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Intellectual Functioning of Children With Isolated PRS, PRS-Plus, and Syndromic PRS by Malarbi, Stephanie, Chisholm, Anita K., Gunn-Charlton, Julia K., Burnett, Alice C., Tan, Tiong Yang, Cheng, Shirley S. W., Pellicano, Anastasia, Shand, Jocelyn, Heggie, Andrew, Hunt, Rod W.

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Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia by Morgan, Angela T, Haaften, Leenke van, van Hulst, Karen, Edley, Carol, Mei, Cristina, Tan, Tiong Yang, Amor, David, Fisher, Simon E, Koolen, David A

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients by Sekiguchi, Futoshi, Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Teik, Keng Wee, Mizuno, Seiji, Suzumura, Hiroshi, Isidor, Bertrand, Ong, Winnie Peitee, Haniffa, Muzhirah, White, Susan M, Matsuo, Mari, Saito, Kayoko, Phadke, Shubha, Kosho, Tomoki, Yap, Patrick, Goyal, Manisha, Clarke, Lorne A, Sachdev, Rani, McGillivray, George, Leventer, Richard J, Patel, Chirag, Yamagata, Takanori, Osaka, Hitoshi, Hisaeda, Yoshiya, Ohashi, Hirofumi, Shimizu, Kenji, Nagasaki, Keisuke, Hamada, Junpei, Dateki, Sumito, Sato, Takashi, Chinen, Yasutsugu, Awaya, Tomonari, Kato, Takeo, Iwanaga, Kougoro, Kawai, Masahiko, Matsuoka, Takashi, Shimoji, Yoshikazu, Tan, Tiong Yang, Kapoor, Seema, Gregersen, Nerine, Rossi, Massimiliano, Marie-Laure, Mathieu, McGregor, Lesley, Oishi, Kimihiko, Mehta, Lakshmi, Gillies, Greta, Lockhart, Paul J, Pope, Kate, Shukla, Anju, Girisha, Katta Mohan, Abdel-Salam, Ghada M H, Mowat, David, Coman, David, Kim, Ok Hwa, Cordier, Marie-Pierre, Gibson, Kate, Milunsky, Jeff, Liebelt, Jan, Cox, Helen, El Chehadeh, Salima, Toutain, Annick, Saida, Ken, Aoi, Hiromi, Minase, Gaku, Tsuchida, Naomi, Iwama, Kazuhiro, Uchiyama, Yuri, Suzuki, Toshifumi, Hamanaka, Kohei, Azuma, Yoshiteru, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Takata, Atsushi, Mitsuhashi, Satomi, Miyatake, Satoko, Mizuguchi, Takeshi, Miyake, Noriko, Matsumoto, Naomichi

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Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit by Tan, Natalie B, Tan, Tiong Yang, Martyn, Melissa M, Savarirayan, Ravi, Amor, David J, Moody, Amanda, White, Susan M, Stark, Zornitza

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MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases by Post, Merel A., Wit, Isis, Zijlstra, Fokje S. M., Engelke, Udo F. H., Rooij, Arno, Christodoulou, John, Tan, Tiong Yang, Le Fevre, Anna, Jin, Danqun, Yaplito‐Lee, Joy, Lee, Beom Hee, Low, Karen J., Mallick, Andrew A., Õunap, Katrin, Pitt, James, Reardon, William, Vals, Mari‐Anne, Wortmann, Saskia B., Wessels, Hans J. C. T., Bärenfänger, Melissa, Karnebeek, Clara D. M., Lefeber, Dirk J.

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Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy by Donoghue, Sarah E., White, Susan M., Tan, Tiong Yang, Kowalski, Remi, Morava, Eva, Yaplito‐Lee, Joy

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Parental experiences and genetic counsellor roles in Pierre Robin sequence by Sandow, Rhiannon, Kilpatrick, Nicky M., Tan, Tiong Yang, Raj, Supriya, Forrest, Laura Elenor

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Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia by Campos-Xavier, Ana Belinda, Martinet, Danielle, Bateman, John, Belluoccio, Dan, Rowley, Lynn, Tan, Tiong Yang, Baxová, Alica, Gustavson, Karl-Henrik, Borochowitz, Zvi U., Innes, A. Micheil, Unger, Sheila, Beckmann, Jacques S., Mittaz, Lauréane, Ballhausen, Diana, Superti-Furga, Andrea, Savarirayan, Ravi, Bonafé, Luisa

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Clinical lesson learned from genetic analysis in patients prior to surgical repair of hypospadias by Listyasari, Nurin A., Robevska, Gorjana, Ayers, Katie L., Tan, Tiong Yang, Sinclair, Andrew H., Faradz, Sultana M.H.

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Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness by Hildebrand, Michael S., de Silva, Michelle G., Tan, Tiong Yang, Rose, Elizabeth, Nishimura, Carla, Tolmachova, Tanya, Hulett, Joanne M., White, Susan M., Silver, Jeremy, Bahlo, Melanie, Smith, Richard J.H., Dahl, Hans-Henrik M.

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YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up‐regulating apoptosis by Tan, Tiong Yang, Gordon, Christopher T., Miller, Kerry A, Amor, David J., Farlie, Peter G.

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