RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

by Jenkins, Dagan, Seelow, Dominik, Jehee, Fernanda S., Perlyn, Chad A., Alonso, Luís G., Bueno, Daniela F., Donnai, Dian, Josifiova, Dragana, Mathijssen, Irene M.J., Morton, Jenny E.V., Helene Ørstavik, Karen, Sweeney, Elizabeth, Wall, Steven A., Marsh, Jeffrey L., Nürnberg, Peter, Rita Passos-Bueno, Maria, Wilkie, Andrew O.M.
Published in American journal of human genetics

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

by Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.
Published in American journal of human genetics

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

by Bernkopf, Marie, Abdullah, Ummi B, Bush, Stephen J, Wood, Katherine A, Ghaffari, Sahar, Giannoulatou, Eleni, Koelling, Nils, Maher, Geoffrey J, Thibaut, Loïc M, Williams, Jonathan, Blair, Edward M, Kelly, Fiona Blanco, Bloss, Angela, Burkitt-Wright, Emma, Canham, Natalie, Deng, Alexander T, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Gardham, Alice, Hay, Eleanor, Holder, Muriel, Homfray, Tessa, Hurst, Jane A, Johnson, Diana, Jones, Wendy D, Kini, Usha, Kivuva, Emma, Kumar, Ajith, Lees, Melissa M, Leitch, Harry G, Morton, Jenny E V, Németh, Andrea H, Ramachandrappa, Shwetha, Saunders, Katherine, Shears, Deborah J, Side, Lucy, Splitt, Miranda, Stewart, Alison, Stewart, Helen, Suri, Mohnish, Clouston, Penny, Davies, Robert W, Wilkie, Andrew O M, Goriely, Anne
Published in Nature communications

A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

by 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.
Published in Human genetics

Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

by Morgan, Neil V., Brueton, Louise A., Cox, Phillip, Greally, Marie T., Tolmie, John, Pasha, Shanaz, Aligianis, Irene A., van Bokhoven, Hans, Marton, Tamas, Al-Gazali, Lihadh, Morton, Jenny E.V., Oley, Christine, Johnson, Colin A., Trembath, Richard C., Brunner, Han G., Maher, Eamonn R.
Published in American journal of human genetics

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

by Twigg, Stephen R.F., Matsumoto, Kazuya, Kidd, Alexa M.J., Goriely, Anne, Taylor, Indira B., Fisher, Richard B., Hoogeboom, A. Jeannette M., Mathijssen, Irene M.J., Lourenço, M. Teresa, Morton, Jenny E.V., Sweeney, Elizabeth, Wilson, Louise C., Brunner, Han G., Mulliken, John B., Wall, Steven A., Wilkie, Andrew O.M.
Published in American journal of human genetics

Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

by Zhou, Wenjun, He, Yanlin, Rehman, Atteeq U, Kong, Yan, Hong, Sungguan, Ding, Guolian, Yalamanchili, Hari Krishna, Wan, Ying-Wooi, Paul, Basil, Wang, Chuhan, Gong, Yingyun, Zhou, Wenxian, Liu, Hao, Dean, John, Scalais, Emmanuel, O'Driscoll, Mary, Morton, Jenny E V, Hou, Xinguo, Wu, Qi, Tong, Qingchun, Liu, Zhandong, Liu, Pengfei, Xu, Yong, Sun, Zheng
Published in Nature neuroscience

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

by 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
Published in Genetics in medicine

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

by 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
Published in Genetics in medicine

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

by Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke
Published in American journal of human genetics

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

by Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana P G, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, M J, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D M, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny E V, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, Jr, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark
Published in Genetics in medicine

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the...

by Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M., Brady, Angela F., Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S., Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y., Morton, Jenny E.V., Pilch, Jacek, Pollitt, Rebecca C., Schreiber, Gudrun, Shannon, Nora L., Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S., Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F. Michael, Bönnemann, Carsten G., Rohrbach, Marianne
Published in Genetics in medicine

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

by 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
Published in Genetics in medicine

Author Correction: Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

by Zhou, Wenjun, He, Yanlin, Rehman, Atteeq U, Kong, Yan, Hong, Sungguan, Ding, Guolian, Yalamanchili, Hari Krishna, Wan, Ying-Wooi, Paul, Basil, Wang, Chuhan, Gong, Yingyun, Zhou, Wenxian, Liu, Hao, Dean, John, Scalais, Emmanuel, O'Driscoll, Mary, Morton, Jenny E V, Hou, Xinguo, Wu, Qi, Tong, Qingchun, Liu, Zhandong, Liu, Pengfei, Xu, Yong, Sun, Zheng
Published in Nature neuroscience

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

by Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, M.J., Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Kini, Usha, Mackay, Joel P., Pierson, Tyler Mark
Published in Genetics in medicine

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

by Wright, Caroline F., Quaife, Nicholas M., Ramos-Hernández, Laura, Danecek, Petr, Ferla, Matteo P., Samocha, Kaitlin E., Kaplanis, Joanna, Gardner, Eugene J., Eberhardt, Ruth Y., Chao, Katherine R., Karczewski, Konrad J., Morales, Joannella, Gallone, Giuseppe, Balasubramanian, Meena, Banka, Siddharth, Gompertz, Lianne, Kerr, Bronwyn, Kirby, Amelia, Lynch, Sally A., Morton, Jenny E.V., Pinz, Hailey, Sansbury, Francis H., Stewart, Helen, Zuccarelli, Britton D., Cook, Stuart A., Taylor, Jenny C., Juusola, Jane, Retterer, Kyle, Firth, Helen V., Hurles, Matthew E., Lara-Pezzi, Enrique, Barton, Paul J.R., Whiffin, Nicola
Published in American journal of human genetics

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

by Vissers, Lisenka E.L.M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kirsty, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E.V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Vernon, Hilary J., Brunet, Kendra, Ruivenkamp, Claudia, Kant, Sarina G., Kruszka, Paul, Larson, Austin, Afenjar, Alexandra, Billette de Villemeur, Thierry, Nugent, Kimberly, Raymond, F. Lucy, Venselaar, Hanka, Demurger, Florence, Soler-Alfonso, Claudia, Li, Dong, Bhoj, Elizabeth, Hayes, Ian, Hamilton, Nina Powell, Ahmad, Ayesha, Fisher, Rachel, van den Born, Myrthe, Willems, Marjolaine, Sorlin, Arthur, Delanne, Julian, Moutton, Sebastien, Christophe, Philippe, Mau-Them, Frederic Tran, Vitobello, Antonio, Goel, Himanshu, Massingham, Lauren, Phornphutkul, Chanika, Schwab, Jennifer, Keren, Boris, Charles, Perrine, Vreeburg, Maaike, De Simone, Lenika, Hoganson, George, Iascone, Maria, Milani, Donatella, Evenepoel, Lucie, Revencu, Nicole, Ward, D. Isum, Burns, Kaitlyn, Krantz, Ian, Raible, Sarah E., Murrell, Jill R., Wood, Kathleen, Cho, Megan T., van Bokhoven, Hans, Muenke, Maximilian, Kleefstra, Tjitske, Bodmer, Rolf, de Brouwer, Arjan P.M.
Published in American journal of human genetics

Familial Dandy-Walker syndrome: a case report supporting an autosomal inheritance

by Bragg, Thomas W H, St George, Edward J, Wynne-Jones, Guy A, Hockley, Anthony, Morton, Jenny E V
Published in Child's nervous system

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

by Tooze, R. S., Miller, K. A., Swagemakers, S. M. A., Calpena, E., Mcgowan, S. J., Boute, Odile, Collet, C., Johnson, D., Laffargue, Fanny, de Leeuw, N., Morton, J. V., Noons, P., Ockeloen, C. W., Phipps, J. M., Tan, T. Y., Timberlake, A. T., Vanlerberghe, Clemence, Wall, S. A., Weber, A., Wilson, L. C., Zackai, E. H., Mathijssen, I. M. J., Twigg, S. R. F., Wilkie, A. O. M.
Published in Genetics in Medicine Open

Quantifying the contribution of recessive coding variation to developmental disorders

by Martin, Hilary C, Jones, Wendy D, McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D, Jones, Carla P, Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F, Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J, Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S, Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G, Morton, Jenny, Parker, Michael J, Splitt, Miranda, Turnpenny, Peter D, Vasudevan, Pradeep C, Wright, Michael, Bassett, Andrew, Gerety, Sebastian S, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Hurles, Matthew E, Barrett, Jeffrey C
Published in Science (American Association for the Advancement of Science)