A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

Por Meyer, Esther, Kurian, Manju A., Pasha, Shanaz, Trembath, Richard C., Cole, Trevor, Maher, Eamonn R.
Publicado em 2010

Initiation codon mutation in βB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract

Por Meyer, Esther, Rahman, Fatimah, Owens, Jessica, Pasha, Shanaz, Morgan, Neil V., Trembath, Richard C., Stone, Edwin M., Moore, Anthony T., Maher, Eamonn R.
Publicado em 2009

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy

Por Meyer, Esther, Michaelides, Michel, Tee, Louise J., Robson, Anthony G., Rahman, Fatimah, Pasha, Shanaz, Luxon, Linda M., Moore, Anthony T., Maher, Eamonn R.
Publicado em 2010

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

Por Meyer, Esther, Lim, Derek, Pasha, Shanaz, Tee, Louise J., Rahman, Fatimah, Yates, John R. W., Woods, C. Geoffrey, Reik, Wolf, Maher, Eamonn R.
Publicado em 2009

A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Por Morgan, Neil V., Pasha, Shanaz, Johnson, Colin A., Ainsworth, John R., Eady, Robin A. J., Dawood, Ban, McKeown, Carole, Trembath, Richard C., Wilde, Jonathan, Watson, Steve P., Maher, Eamonn R.
Publicado em 2006

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

Por Morgan, Neil V, Hartley, Jane L, Setchell, Kenneth DR, Simpson, Michael A, Brown, Rachel, Tee, Louise, Kirkham, Sian, Pasha, Shanaz, Trembath, Richard C, Maher, Eamonn R, Gissen, Paul, Kelly, Deirdre A
Publicado em 2013

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ(+) T cells

Por Morgan, Neil V., Goddard, Sarah, Cardno, Tony S., McDonald, David, Rahman, Fatimah, Barge, Dawn, Ciupek, Andrew, Straatman-Iwanowska, Anna, Pasha, Shanaz, Guckian, Mary, Anderson, Graham, Huissoon, Aarnoud, Cant, Andrew, Tate, Warren P., Hambleton, Sophie, Maher, Eamonn R.
Publicado em 2011

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

Por Kurian, Manju A., Zhen, Juan, Cheng, Shu-Yuan, Li, Yan, Mordekar, Santosh R., Jardine, Philip, Morgan, Neil V., Meyer, Esther, Tee, Louise, Pasha, Shanaz, Wassmer, Evangeline, Heales, Simon J.R., Gissen, Paul, Reith, Maarten E.A., Maher, Eamonn R.
Publicado em 2009

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

Por 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.
Publicado em 2006

Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)

Por Meyer, Esther, Ricketts, Christopher, Morgan, Neil V., Morris, Mark R., Pasha, Shanaz, Tee, Louise J., Rahman, Fatimah, Bazin, Anne, Bessières, Bettina, Déchelotte, Pierre, Yacoubi, Mohamed T., Al-Adnani, Mudher, Marton, Tamas, Tannahill, David, Trembath, Richard C., Fallet-Bianco, Catherine, Cox, Phillip, Williams, Denise, Maher, Eamonn R.
Publicado em 2010

Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease

Por Morgan, Neil V., Morris, Mark R., Cangul, Hakan, Gleeson, Diane, Straatman-Iwanowska, Anna, Davies, Nicholas, Keenan, Stephen, Pasha, Shanaz, Rahman, Fatimah, Gentle, Dean, Vreeswijk, Maaike P. G., Devilee, Peter, Knowles, Margaret A., Ceylaner, Serdar, Trembath, Richard C., Dalence, Carlos, Kismet, Erol, Köseoğlu, Vedat, Rossbach, Hans-Christoph, Gissen, Paul, Tannahill, David, Maher, Eamonn R.
Publicado em 2010

PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

Por Morgan, Neil V, Westaway, Shawn K, Morton, Jenny E V, Gregory, Allison, Gissen, Paul, Sonek, Scott, Cangul, Hakan, Coryell, Jason, Canham, Natalie, Nardocci, Nardo, Zorzi, Giovanna, Pasha, Shanaz, Rodriguez, Diana, Desguerre, Isabelle, Mubaidin, Amar, Bertini, Enrico, Trembath, Richard C, Simonati, Alessandro, Schanen, Carolyn, Johnson, Colin A, Levinson, Barbara, Woods, C Geoffrey, Wilmot, Beth, Kramer, Patricia, Gitschier, Jane, Maher, Eamonn R, Hayflick, Susan J
Publicado em 2006

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Por Bem, Danai, Yoshimura, Shin-Ichiro, Nunes-Bastos, Ricardo, Bond, Frances F., Kurian, Manju A., Rahman, Fatima, Handley, Mark T.W., Hadzhiev, Yavor, Masood, Imran, Straatman-Iwanowska, Ania A., Cullinane, Andrew R., McNeill, Alisdair, Pasha, Shanaz S., Kirby, Gail A., Foster, Katharine, Ahmed, Zubair, Morton, Jenny E., Williams, Denise, Graham, John M., Dobyns, William B., Burglen, Lydie, Ainsworth, John R., Gissen, Paul, Müller, Ferenc, Maher, Eamonn R., Barr, Francis A., Aligianis, Irene A.
Publicado em 2011

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Por Bem, Danai, Yoshimura, Shin-Ichiro, Nunes-Bastos, Ricardo, Bond, Frances C., Kurian, Manju A., Rahman, Fatima, Handley, Mark T.W., Hadzhiev, Yavor, Masood, Imran, Straatman-Iwanowska, Ania A., Cullinane, Andrew R., McNeill, Alisdair, Pasha, Shanaz S., Kirby, Gail A., Foster, Katharine, Ahmed, Zubair, Morton, Jenny E., Williams, Denise, Graham, John M., Dobyns, William B., Burglen, Lydie, Ainsworth, John R., Gissen, Paul, Müller, Ferenc, Maher, Eamonn R., Barr, Francis A., Aligianis, Irene A.
Publicado em 2011