Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard

por Kirk, Edwin P., Delatycki, Martin B., Laing, Nigel
Publicado 2022

Views of reproductive genetic carrier screening participants regarding screening for genes associated with non‐syndromic hearing loss

por Freeman, Lucinda, Delatycki, Martin B., Leach Scully, Jackie, Kirk, Edwin P.
Publicado 2022

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

por Pinner, Jason R, Freckmann, Mary-Louise, Kirk, Edwin P, Yoshino, Makoto
Publicado 2010

Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening

por Freeman, Lucinda, Delatycki, Martin B., Scully, Jackie Leach, Briggs, Nancy, Kirk, Edwin P.
Publicado 2023

Exploration of decision-making regarding the transfer of mosaic embryos following preimplantation genetic testing: a qualitative study

por Cheng, Lin, Meiser, Bettina, Kennedy, Debra, Kirk, Edwin, Barlow-Stewart, Kristine, Kaur, Rajneesh
Publicado 2022

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

por Mason, Samantha, Castilla-Vallmanya, Laura, James, Con, Andrews, P. Ian, Balcells, Susana, Grinberg, Daniel, Kirk, Edwin P., Urreizti, Roser
Publicado 2019

The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers

por Davidson, Joanne E, Russell, Jacqueline S, Martinez, Noelia Nunez, Mowat, David R, Jones, Kristi J, Kirk, Edwin P, Kariyawasam, Didu, Farrar, Michelle, D’Silva, Arlene
Publicado 2023

Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D

por Gray, Paul Edgar, Shadur, Bella, Russell, Susan, Mitchell, Richard, Buckley, Michael, Gallagher, Kerri, Andrews, Ian, Thia, Kevin, Trapani, Joseph A., Kirk, Edwin Philip, Voskoboinik, Ilia
Publicado 2017

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex

por 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
Publicado 2018

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant

por Yuen, Michaela, Worgan, Lisa, Iwanski, Jessika, Pappas, Christopher T., Joshi, Himanshu, Churko, Jared M., Arbuckle, Susan, Kirk, Edwin P., Zhu, Ying, Roscioli, Tony, Gregorio, Carol C., Cooper, Sandra T.
Publicado 2022

Paediatric genomic testing: Navigating genomic reports for the general paediatrician

por Shah, Margit, Selvanathan, Arthavan, Baynam, Gareth, Berman, Yemima, Boughtwood, Tiffany, Freckmann, Mary‐Louise, Parasivam, Gayathri, White, Susan M, Grainger, Natalie, Kirk, Edwin P, Ma, Alan SL, Sachdev, Rani
Publicado 2021

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

por 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
Publicado 2012

Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection

por Terrill, Bronwyn, McKnight, Lauren, Pearce, Angela, Gordon, Heather, Lo, William, Lee, I-Chieh Jennifer, Runiewicz, Monica, Palmer, Alex, Andrews, Lesley, Kirk, Edwin, Goldberg, Daniel, Tucker, John, Murray, David, Kaplan, Warren, Kummerfeld, Sarah, Burnett, Leslie
Publicado 2023

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

por 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.
Publicado 2019

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

por 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.
Publicado 2011

Pierpont Syndrome: A Collaborative Study

por 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
Publicado 2011

Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line

por Moradi Marjaneh, Mahdi, Kirk, Edwin P, Patrick, Ralph, Alankarage, Dimuthu, Humphreys, David T, Del Monte-Nieto, Gonzalo, Cornejo-Paramo, Paola, Janbandhu, Vaibhao, Doan, Tram B, Dunwoodie, Sally L, Wong, Emily S, Moran, Chris, Martin, Ian CA, Thomson, Peter C, Harvey, Richard P
Publicado 2023

Paediatric genomic testing: Navigating medicare rebatable genomic testing

por Sachdev, Rani, Field, Mike, Baynam, Gareth S, Beilby, John, Berarducci, Maria, Berman, Yemima, Boughtwood, Tiffany, Cusack, Marie B, Fitzgerald, Vanessa, Fletcher, Jeffery, Freckmann, Mary‐Louise, Grainger, Natalie, Kirk, Edwin, Lundie, Ben, Lunke, Sebastian, McGregor, Lesley, Mowat, David, Parasivam, Gayathri, Tyrell, Vanessa, Wallis, Mathew, White, Susan M, S L Ma, Alan
Publicado 2021

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

por 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.
Publicado 2014

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

por Palmer, Elizabeth E., Schofield, Deborah, Shrestha, Rupendra, Kandula, Tejaswi, Macintosh, Rebecca, Lawson, John A., Andrews, Ian, Sampaio, Hugo, Johnson, Alexandra M., Farrar, Michelle A., Cardamone, Michael, Mowat, David, Elakis, George, Lo, William, Zhu, Ying, Ying, Kevin, Morris, Paula, Tao, Jiang, Dias, Kerith‐Rae, Buckley, Michael, Dinger, Marcel E., Cowley, Mark J., Roscioli, Tony, Kirk, Edwin P., Bye, Ann, Sachdev, Rani K.
Publicado 2018