Molecular Diagnosis of Duchenne Muscular Dystrophy: Past, Present and Future in Relation to Implementing Therapies

ανά Laing, Nigel G, Davis, Mark R, Bayley, Klair, Fletcher, Sue, Wilton, Steve D
Έκδοση 2011

Clinical utility gene card for: Nemaline myopathy

ανά Nowak, Kristen J, Davis, Mark R, Wallgren-Pettersson, Carina, Lamont, Phillipa J, Laing, Nigel G
Έκδοση 2012

Clinical utility gene card for: Nemaline myopathy – update 2015

ανά Nowak, Kristen J, Davis, Mark R, Wallgren-Pettersson, Carina, Lamont, Phillipa J, Laing, Nigel G
Τόπος έκδοσης Eur J Hum Genet (2015)

Clinical Utility Gene Card for: Becker muscular dystrophy

ανά Coote, David, Davis, Mark R., Cabrera, Macarena, Needham, Merrilee, Laing, Nigel G., Nowak, Kristen J.
Τόπος έκδοσης Eur J Hum Genet (2018)

CUGC for Duchenne muscular dystrophy (DMD)

ανά Coote, David J., Davis, Mark R., Cabrera, Macarena, Needham, Merrilee, Laing, Nigel G., Nowak, Kristen J.
Τόπος έκδοσης Eur J Hum Genet (2018)

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

ανά Coote, David J., Davis, Mark R., Cabrera, Macarena, Needham, Merrilee, Laing, Nigel G., Nowak, Kristen J.
Τόπος έκδοσης Eur J Hum Genet (2018)

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report

ανά Mc Glacken-Byrne, Aisling B., Prentice, David, Roshandel, Danial, Brown, Michael R., Tuch, Philip, Yau, Kyle S.-Y., Sivadorai, Padma, Davis, Mark R., Laing, Nigel G., Chen, Fred K.
Τόπος έκδοσης BMC Ophthalmol (2020)

Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

ανά Hobbelink, Sanne M. R., Brockley, Cain R., Kennedy, Rachel A., Carroll, Kate, de Valle, Katy, Rao, Padma, Davis, Mark R., Laing, Nigel G., Voermans, Nicol C., Ryan, Monique M., Yiu, Eppie M.
Τόπος έκδοσης Brain Behav (2018)

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly

ανά Bryen, Samantha J., Joshi, Himanshu, Evesson, Frances J., Girard, Cyrille, Ghaoui, Roula, Waddell, Leigh B., Testa, Alison C., Cummings, Beryl, Arbuckle, Susan, Graf, Nicole, Webster, Richard, MacArthur, Daniel G., Laing, Nigel G., Davis, Mark R., Lührmann, Reinhard, Cooper, Sandra T.
Τόπος έκδοσης Am J Hum Genet (2019)

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

ανά Sandaradura, Sarah A, Bournazos, Adam, Mallawaarachchi, Amali, Cummings, Beryl B, Waddell, Leigh B, Jones, Kristi J, Troedson, Christopher, Sudarsanam, Annapurna, Nash, Benjamin M, Peters, Gregory B, Algar, Elizabeth M, MacArthur, Daniel G, North, Kathryn N, Brammah, Susan, Charlton, Amanda, Laing, Nigel G, Wilson, Meredith J, Davis, Mark R, Cooper, Sandra T
Τόπος έκδοσης Hum Mutat (2018)

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

ανά Beecroft, Sarah J., Yau, Kyle S., Allcock, Richard J. N., Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J., Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M., Cabrera‐Serrano, Macarena, Nowak, Kristen J., Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Laing, Nigel G.
Τόπος έκδοσης Ann Clin Transl Neurol (2020)

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

ανά Scriba, Carolin K, Beecroft, Sarah J, Clayton, Joshua S, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dominik, Natalia, Rodrigues, Miriam, Walker, Elizabeth, Dyer, Zoe, Wu, Teddy Y, Davis, Mark R, Chandler, David C, Weisburd, Ben, Houlden, Henry, Reilly, Mary M, Laing, Nigel G, Lamont, Phillipa J, Roxburgh, Richard H, Ravenscroft, Gianina
Τόπος έκδοσης Brain (2020)

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

ανά Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.
Έκδοση 2010

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

ανά Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.
Έκδοση 2011

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

ανά Ravenscroft, Gianina, Clayton, Joshua S, Faiz, Fathimath, Sivadorai, Padma, Milnes, Di, Cincotta, Rob, Moon, Phillip, Kamien, Ben, Edwards, Matt, Delatycki, Martin, Lamont, Phillipa J, Chan, Sophelia HS, Colley, Alison, Ma, Alan, Collins, Felicity, Hennington, Lucinda, Zhao, Teresa, McGillivray, George, Ghedia, Sondhya, Chao, Katherine, O’Donnell-Luria, Anne, Laing, Nigel G, Davis, Mark R
Τόπος έκδοσης J Med Genet (2020)

Mutations in CYC1, Encoding Cytochrome c(1) Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

ανά Gaignard, Pauline, Menezes, Minal, Schiff, Manuel, Bayot, Aurélien, Rak, Malgorzata, Ogier de Baulny, Hélène, Su, Chen-Hsien, Gilleron, Mylene, Lombes, Anne, Abida, Heni, Tzagoloff, Alexander, Riley, Lisa, Cooper, Sandra T., Mina, Kym, Sivadorai, Padma, Davis, Mark R., Allcock, Richard J.N., Kresoje, Nina, Laing, Nigel G., Thorburn, David R., Slama, Abdelhamid, Christodoulou, John, Rustin, Pierre
Έκδοση 2013

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

ανά Todd, Emily J., Yau, Kyle S., Ong, Royston, Slee, Jennie, McGillivray, George, Barnett, Christopher P., Haliloglu, Goknur, Talim, Beril, Akcoren, Zuhal, Kariminejad, Ariana, Cairns, Anita, Clarke, Nigel F., Freckmann, Mary-Louise, Romero, Norma B., Williams, Denise, Sewry, Caroline A, Colley, Alison, Ryan, Monique M., Kiraly-Borri, Cathy, Sivadorai, Padma, Allcock, Richard J.N., Beeson, David, Maxwell, Susan, Davis, Mark R., Laing, Nigel G., Ravenscroft, Gianina
Τόπος έκδοσης Orphanet J Rare Dis (2015)

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

ανά Gupta, Vandana A., Ravenscroft, Gianina, Shaheen, Ranad, Todd, Emily J., Swanson, Lindsay C., Shiina, Masaaki, Ogata, Kazuhiro, Hsu, Cynthia, Clarke, Nigel F., Darras, Basil T., Farrar, Michelle A., Hashem, Amal, Manton, Nicholas D., Muntoni, Francesco, North, Kathryn N., Sandaradura, Sarah A., Nishino, Ichizo, Hayashi, Yukiko K., Sewry, Caroline A., Thompson, Elizabeth M., Yau, Kyle S., Brownstein, Catherine A., Yu, Timothy W., Allcock, Richard J.N., Davis, Mark R., Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Alkuraya, Fowzan S., Laing, Nigel G., Beggs, Alan H.
Έκδοση 2013

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

ανά Bryen, Samantha J., Ewans, Lisa, Pinner, Jason, MacLennan, Suzanna C., Donkervoort, Sandra, Castro, Diana, Töpf, Ana, O’Grady, Gina, Cummings, Beryl, Chao, Katherine R., Weisburd, Ben, Francioli, Laurent, Faiz, Fathin, Bournazos, Adam M., Hu, Ying, Grosmann, Carla, Malicki, Denise M., Doyle, Helen, Witting, Nanna, Vissing, John, Claeys, Kristl G., Urankar, Kathryn, Beleza-Meireles, Ana, Baptista, Julia, Ellard, Sian, Savarese, Marco, Johari, Mridul, Vihola, Anna, Udd, Bjarne, Majumdar, Anirban, Straub, Volker, Bonnemann, Carsten, MacArthur, Daniel G., Davis, Mark R., Cooper, Sandra T.
Τόπος έκδοσης Hum Mutat (2019)

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

ανά Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan
Τόπος έκδοσης Am J Hum Genet (2018)