The fog of expectation

Bằng Kirk, Edwin P
Được phát hành 2004

Embryo selection for complex traits is impracticable

Bằng Kirk, Edwin P
Được phát hành 2003

Classification of stillbirth: Classification is not explanation

Bằng Kirk, Edwin P
Được phát hành 2005

‘Nasal' speech–hyper or hypo?

Bằng Kirk, Edwin P
Được phát hành 2012

Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature

Bằng Pinner, Jason R, Freckmann, Mary-Louise, Kirk, Edwin P, Yoshino, Makoto
Được phát hành 2010

Case report of a child bearing a novel deleterious splicing variant in PIGT

Bằng Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P. Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P., Urreizti, Roser
Xuất bản năm Medicine (Baltimore) (2019)

Clinical utility gene card for: Cantú syndrome

Bằng Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K
Xuất bản năm Eur J Hum Genet (2017)

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex

Bằng O’Neill, Adam C., Kyrousi, Christina, Einsiedler, Melanie, Burtscher, Ingo, Drukker, Micha, Markie, David M., Kirk, Edwin P., Götz, Magdalena, Robertson, Stephen P., Cappello, Silvia
Xuất bản năm Front Cell Neurosci (2018)

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Bằng Kirby, Denise M., Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M., Kirk, Edwin P., Boneh, Avihu, Taylor, Robert W., Dahl, Hans-Henrik M., Ryan, Michael T., Thorburn, David R.
Được phát hành 2004

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

Bằng Granados-Riveron, Javier T, Pope, Mark, Bu'Lock, Frances A, Thornborough, Christopher, Eason, Jacqueline, Setchfield, Kerry, Ketley, Ami, Kirk, Edwin P, Fatkin, Diane, Feneley, Michael P, Harvey, Richard P, Brook, J David
Được phát hành 2012

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience

Bằng Ma, Alan, Gurnasinghani, Sunita, Kirk, Edwin P., McClenaghan, Conor, Singh, Gautam K., Grange, Dorothy K., Pandit, Chetan, Zhu, Yung, Roscioli, Tony, Elakis, George, Buckley, Michael, Mehta, Bhavesh, Roberts, Philip, Mervis, Jonathan, Biggin, Andrew, Nichols, Colin G.
Xuất bản năm Am J Med Genet A (2019)

Investigation of Association between PFO Complicated by Cryptogenic Stroke and a Common Variant of the Cardiac Transcription Factor GATA4

Bằng Moradi Marjaneh, Mahdi, Kirk, Edwin P., Posch, Maximilian G., Ozcelik, Cemil, Berger, Felix, Hetzer, Roland, Otway, Robyn, Butler, Tanya L., Blue, Gillian M., Griffiths, Lyn R., Fatkin, Diane, Martinson, Jeremy J., Winlaw, David S., Feneley, Michael P., Harvey, Richard P.
Được phát hành 2011

Pierpont Syndrome: A Collaborative Study

Bằng Wright, Emma MM Burkitt, Suri, Mohnish, White, Susan M, de Leeuw, Nicole, Silfhout, Anneke T Vulto-van, Stewart, Fiona, McKee, Shane, Mansour, Sahar, Connell, Fiona C, Chopra, Maya, Kirk, Edwin P, Devriendt, Koen, Reardon, Willie, Brunner, Han, Donnai, Dian
Xuất bản năm Am J Med Genet A (2011)

A de novo mutation in the Sodium-Activated Potassium channel KCNT2 alters ion selectivity and causes epileptic encephalopathy

Bằng Gururaj, Sushmitha, Palmer, Elizabeth Emma, Sheehan, Garrett D, Kandula, Tejaswi, Macintosh, Rebecca, Ying, Kevin, Morris, Paula, Tao, Jiang, Dias, Kerith-Rae, Zhu, Ying, Dinger, Marcel E., Cowley, Mark J., Kirk, Edwin P, Roscioli, Tony, Sachdev, Rani, Duffey, Michael E, Bye, Ann, Bhattacharjee, Arin
Xuất bản năm Cell Rep (2017)

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Bằng Lim, Sze Chern, Friemel, Martin, Marum, Justine E., Tucker, Elena J., Bruno, Damien L., Riley, Lisa G., Christodoulou, John, Kirk, Edwin P., Boneh, Avihu, DeGennaro, Christine M., Springer, Michael, Mootha, Vamsi K., Rouault, Tracey A., Leimkühler, Silke, Thorburn, David R., Compton, Alison G.
Được phát hành 2013

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

Bằng Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A, Donnelly, Kevin, Parada, Jose Campos, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E, Bitoun, Pierre, Kirk, Edwin P, Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R, Meynert, Alison
Xuất bản năm J Med Genet (2023)

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Bằng Grange, Dorothy K., Roessler, Helen I., McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S., Knoers, Nine V. A. M., Lee, Jin-Moo, Kirk, Edwin P., Scurr, Ingrid, Smithson, Sarah F., Singh, Gautam K., van Haelst, Mieke M., Nichols, Colin G., van Haaften, Gijs
Xuất bản năm Am J Med Genet C Semin Med Genet (2019)

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

Bằng Lynch, Danielle C., Revil, Timothée, Schwartzentruber, Jeremy, Bhoj, Elizabeth J., Innes, A. Micheil, Lamont, Ryan E., Lemire, Edmond G., Chodirker, Bernard N., Taylor, Juliet P., Zackai, Elaine H., McLeod, D. Ross, Kirk, Edwin P., Hoover-Fong, Julie, Fleming, Leah, Savarirayan, Ravi, Majewski, Jacek, Jerome-Majewska, Loydie A., Parboosingh, Jillian S., Bernier, Francois P.
Được phát hành 2014

Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy

Bằng Kirk, Edwin P. , Sunde, Margaret , Costa, Mauro W. , Rankin, Scott A. , Wolstein, Orit , Castro, M. Leticia , Butler, Tanya L. , Hyun, Changbaig , Guo, Guanglan , Otway, Robyn , Mackay, Joel P. , Waddell, Leigh B. , Cole, Andrew D. , Hayward, Christopher , Keogh, Anne , Macdonald, Peter , Griffiths, Lyn , Fatkin, Diane , Sholler, Gary F. , Zorn, Aaron M. , Feneley, Michael P. , Winlaw, David S. , Harvey, Richard P. 
Được phát hành 2007

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy

Bằng Palmer, Elizabeth E., Jarrett, Kelsey E., Sachdev, Rani K., Al Zahrani, Fatema, Hashem, Mais Omar, Ibrahim, Niema, Sampaio, Hugo, Kandula, Tejaswi, Macintosh, Rebecca, Gupta, Rajat, Conlon, Donna M., Billheimer, Jeffrey T., Rader, Daniel J., Funato, Kouichi, Walkey, Christopher J., Lee, Chang Seok, Loo, Christine, Brammah, Susan, Elakis, George, Zhu, Ying, Buckley, Michael, Kirk, Edwin P., Bye, Ann, Alkuraya, Fowzan S., Roscioli, Tony, Lagor, William R.
Xuất bản năm Hum Mol Genet (2016)