Works by Bahlo, Melanie

Results: 123
    1

    Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants Open Access.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 15, p. 1286, doi. 10.1093/hmg/ddaf077
    By:
    • Sikta, Neblina;
    • Gooley, Samuel;
    • Green, Timothy E;
    • Hoeper, Olivia;
    • Witkowski, Tom;
    • Bennett, Caitlin;
    • Francis, David;
    • Reid, Joshua;
    • Mao, Kevin;
    • Awad, Mohammed;
    • Roberts-Thomson, Samuel;
    • Bulluss, Kristian;
    • Clark, Jonathan;
    • Scheffer, Ingrid E;
    • Perucca, Piero;
    • Bennett, Mark F;
    • Bahlo, Melanie;
    • Berkovic, Samuel F;
    • Hildebrand, Michael S
    Publication type:
    Article
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    Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

    Published in:
    Cerebellum, 2025, v. 24, n. 4, p. 1, doi. 10.1007/s12311-025-01867-2
    By:
    • Davies, Kayli C.;
    • Rafehi, Haloom;
    • Fearnley, Liam G.;
    • Snell, Penny;
    • Gillies, Greta;
    • Field, Tess A.;
    • Halmágyi, Gábor M.;
    • Kumar, Kishore R.;
    • Pope, Kate;
    • Smyth, Renee;
    • Tomlinson, Susan E.;
    • Tisch, Stephen;
    • Tang, Chi-Chang;
    • Watson, Shaun R. D.;
    • Wellings, Thomas;
    • Wu, Kathy H. C.;
    • Szmulewicz, David J.;
    • Delatycki, Martin B.;
    • Bahlo, Melanie;
    • Lockhart, Paul J.
    Publication type:
    Article
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    Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1250, doi. 10.1002/acn3.52041
    By:
    • Marchant, Rhett G.;
    • Bryen, Samantha J.;
    • Bahlo, Melanie;
    • Cairns, Anita;
    • Chao, Katherine R.;
    • Corbett, Alastair;
    • Davis, Mark R.;
    • Ganesh, Vijay S.;
    • Ghaoui, Roula;
    • Jones, Kristi J.;
    • Kornberg, Andrew J.;
    • Lek, Monkol;
    • Liang, Christina;
    • MacArthur, Daniel G.;
    • Oates, Emily C.;
    • O'Donnell‐Luria, Anne;
    • O'Grady, Gina L.;
    • Osei‐Owusu, Ikeoluwa A.;
    • Rafehi, Haloom;
    • Reddel, Stephen W.
    Publication type:
    Article
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    Loss‐of‐function variants in K<sub>v</sub>11.1 cardiac channels as a biomarker for SUDEP.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1422, doi. 10.1002/acn3.51381
    By:
    • Soh, Ming S.;
    • Bagnall, Richard D.;
    • Bennett, Mark F.;
    • Bleakley, Lauren E.;
    • Mohamed Syazwan, Erlina S.;
    • Phillips, A. Marie;
    • Chiam, Mathew D. F.;
    • McKenzie, Chaseley E.;
    • Hildebrand, Michael;
    • Crompton, Douglas;
    • Bahlo, Melanie;
    • Semsarian, Christopher;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Reid, Christopher A.
    Publication type:
    Article
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    Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 575, doi. 10.1002/acn3.191
    By:
    • Scerri, Thomas;
    • Riseley, Jessica R.;
    • Gillies, Greta;
    • Pope, Kate;
    • Burgess, Rosemary;
    • Mandelstam, Simone A.;
    • Dibbens, Leanne;
    • Chow, Chung W.;
    • Maixner, Wirginia;
    • Harvey, Anthony Simon;
    • Jackson, Graeme D.;
    • Amor, David J.;
    • Delatycki, Martin B.;
    • Crino, Peter B.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Bahlo, Melanie;
    • Lockhart, Paul J.;
    • Leventer, Richard J.
    Publication type:
    Article
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    Early neuroimaging markers of FOXP2 intragenic deletion.

    Published in:
    Scientific Reports, 2016, p. 35192, doi. 10.1038/srep35192
    By:
    • Liégeois, Frédérique J.;
    • Hildebrand, Michael S.;
    • Bonthrone, Alexandra;
    • Turner, Samantha J.;
    • Scheffer, Ingrid E.;
    • Bahlo, Melanie;
    • Connelly, Alan;
    • Morgan, Angela T.
    Publication type:
    Article
    19

    Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 14, p. 2307, doi. 10.1093/hmg/ddab366
    By:
    • Green, Timothy E;
    • Motelow, Joshua E;
    • Bennett, Mark F;
    • Ye, Zimeng;
    • Bennett, Caitlin A;
    • Griffin, Nicole G;
    • Damiano, John A;
    • Leventer, Richard J;
    • Freeman, Jeremy L;
    • Harvey, A Simon;
    • Lockhart, Paul J;
    • Sadleir, Lynette G;
    • Boys, Amber;
    • Scheffer, Ingrid E;
    • Major, Heather;
    • Darbro, Benjamin W;
    • Bahlo, Melanie;
    • Goldstein, David B;
    • Kerrigan, John F;
    • Heinzen, Erin L
    Publication type:
    Article
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    Increasingly inbred and fragmented populations of Plasmodium vivax associated with the eastward decline in malaria transmission across the Southwest Pacific.

    Published in:
    PLoS Neglected Tropical Diseases, 2018, v. 12, n. 1, p. 1, doi. 10.1371/journal.pntd.0006146
    By:
    • Waltmann, Andreea;
    • Koepfli, Cristian;
    • Tessier, Natacha;
    • Karl, Stephan;
    • Fola, Abebe;
    • Darcy, Andrew W.;
    • Wini, Lyndes;
    • Harrison, G. L. Abby;
    • Barnadas, Céline;
    • Jennison, Charlie;
    • Karunajeewa, Harin;
    • Boyd, Sarah;
    • Whittaker, Maxine;
    • Kazura, James;
    • Bahlo, Melanie;
    • Mueller, Ivo;
    • Barry, Alyssa E.
    Publication type:
    Article
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    ACa<sub>v</sub>3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure Expression in a Polygenic Rat Model of Absence Epilepsy.

    Published in:
    Journal of Neuroscience, 2009, v. 29, n. 2, p. 371, doi. 10.1523/JNEUROSCI.5295-08.2009
    By:
    • Powell, Kim L.;
    • Cain, Stuart M.;
    • Ng, Caroline;
    • Sirdesai, Shreerang;
    • David, Laurence S.;
    • Kyi, Mervyn;
    • Garcia, Esperanza;
    • Tyson, John R.;
    • Reid, Christopher A.;
    • Bahlo, Melanie;
    • Foote, Simon J.;
    • Snutch, Terrance P.;
    • O'Brien, Terence J.
    Publication type:
    Article
    29

    Evaluation of non-coding variation in GLUT1 deficiency.

    Published in:
    2016
    By:
    • Liu, Yu‐Chi;
    • Lee, Jia Wei Audrey;
    • Bellows, Susannah T;
    • Damiano, John A;
    • Mullen, Saul A;
    • Berkovic, Samuel F;
    • Bahlo, Melanie;
    • Scheffer, Ingrid E;
    • Hildebrand, Michael S;
    • Ryan, Monique M.;
    • Leventer, Richard J.;
    • Freeman, Jeremy L.;
    • Mackay, Mark T.;
    • Hayman, Michael;
    • Rodriguez‐Casero, Victoria;
    • Subramanian, Gopi;
    • Webster, Richard;
    • Sadleir, Lynette G.
    Publication type:
    journal article
    30

    Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

    Published in:
    Nature Genetics, 2014, v. 46, n. 11, p. 1239, doi. 10.1038/ng.3103
    By:
    • Lessel, Davor;
    • Kubisch, Christian;
    • Cabrera, Elisa;
    • Freire, Raimundo;
    • Nahid, Amsha;
    • Norris, Fiona;
    • Leventer, Richard J;
    • Delatycki, Martin B;
    • Barbi, Gotthold;
    • von Ameln, Simon;
    • Högel, Josef;
    • Fertig, Regina;
    • Burkhalter, Martin D;
    • Hofmann, Kay;
    • Thiele, Holger;
    • Altmüller, Janine;
    • Nürnberg, Gudrun;
    • Vaz, Bruno;
    • Nürnberg, Peter;
    • Bahlo, Melanie
    Publication type:
    Article
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    IL28B is associated with response to chronic hepatitis C interferon-α and ribavirin therapy.

    Published in:
    Nature Genetics, 2009, v. 41, n. 10, p. 1100, doi. 10.1038/ng.447
    By:
    • Suppiah, Vijayaprakash;
    • Moldovan, Max;
    • Ahlenstiel, Golo;
    • Berg, Thomas;
    • Weltman, Martin;
    • Abate, Maria Lorena;
    • Bassendine, Margaret;
    • Spengler, Ulrich;
    • Dore, Gregory J.;
    • Powell, Elizabeth;
    • Riordan, Stephen;
    • Sheridan, David;
    • Smedile, Antonina;
    • Fragomeli, Vincenzo;
    • Müller, Tobias;
    • Bahlo, Melanie;
    • Stewart, Graeme J.;
    • Booth, David R.;
    • George, Jacob
    Publication type:
    Article
    33

    Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.

    Published in:
    Nature Genetics, 2009, v. 41, n. 7, p. 824, doi. 10.1038/ng.396
    By:
    • Bahlo, Melanie;
    • Booth, David R;
    • Broadley, Simon A;
    • Brown, Matthew A;
    • Foote, Simon J;
    • Griffiths, Lyn R;
    • Kilpatrick, Trevor J;
    • Lechner-Scott, Jeanette;
    • Moscato, Pablo;
    • Perreau, Victoria M;
    • Rubio, Justin P;
    • Scott, Rodney J;
    • Stankovich, Jim;
    • Stewart, Graeme J;
    • Taylor, Bruce V;
    • Wiley, James;
    • Clarke, Glynnis;
    • Cox, Mathew B;
    • Csurhes, Peter A;
    • Danoy, Patrick
    Publication type:
    Article
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    A family study implicates GBE1 in the etiology of autism spectrum disorder.

    Published in:
    Human Mutation, 2022, v. 43, n. 1, p. 16, doi. 10.1002/humu.24289
    By:
    • Fanjul‐Fernández, Miriam;
    • Brown, Natasha J.;
    • Hickey, Peter;
    • Diakumis, Peter;
    • Rafehi, Haloom;
    • Bozaoglu, Kiymet;
    • Green, Cherie C.;
    • Rattray, Audrey;
    • Young, Savannah;
    • Alhuzaimi, Dana;
    • Mountford, Hayley S.;
    • Gillies, Greta;
    • Lukic, Vesna;
    • Vick, Tanya;
    • Finlay, Keri;
    • Coe, Bradley P.;
    • Eichler, Evan E.;
    • Delatycki, Martin B.;
    • Wilson, Sarah J.;
    • Bahlo, Melanie
    Publication type:
    Article
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    EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

    Published in:
    Human Mutation, 2017, v. 38, n. 4, p. 409, doi. 10.1002/humu.23170
    By:
    • Skopkova, Martina;
    • Hennig, Friederike;
    • Shin, Byung‐Sik;
    • Turner, Clesson E.;
    • Stanikova, Daniela;
    • Brennerova, Katarina;
    • Stanik, Juraj;
    • Fischer, Ute;
    • Henden, Lyndal;
    • Müller, Ulrich;
    • Steinberger, Daniela;
    • Leshinsky‐Silver, Esther;
    • Bottani, Armand;
    • Kurdiova, Timea;
    • Ukropec, Jozef;
    • Nyitrayova, Olga;
    • Kolnikova, Miriam;
    • Klimes, Iwar;
    • Borck, Guntram;
    • Bahlo, Melanie
    Publication type:
    Article
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    De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007281
    By:
    • Heinzen, Erin L.;
    • O'Neill, Adam C.;
    • Zhu, Xiaolin;
    • Allen, Andrew S.;
    • Bahlo, Melanie;
    • Chelly, Jamel;
    • Dobyns, William B.;
    • Freytag, Saskia;
    • Guerrini, Renzo;
    • Leventer, Richard J.;
    • Poduri, Annapurna;
    • Robertson, Stephen P.;
    • Walsh, Christopher A.;
    • Zhang, Mengqi;
    • null, null
    Publication type:
    Article
    42

    Agm1/Pgm3-Mediated Sugar Nucleotide Synthesis Is Essential for Hematopoiesis and Development.

    Published in:
    Molecular & Cellular Biology, 2007, v. 27, n. 16, p. 20, doi. 10.1128/MCB.00802-07
    By:
    • Greig, Kylie T.;
    • Antonchuk, Jennifer;
    • Metcalf, Donald;
    • Morgan, Phillip O.;
    • Krebs, Danielle L.;
    • Jian-Guo Zhang;
    • Hacking, Douglas F.;
    • Bode, Lars;
    • Robb, Lorraine;
    • Kranz, Christian;
    • De Graaf, Carolyn;
    • Bahlo, Melanie;
    • Nicola, Nicos A.;
    • Nutt, Stephen L.;
    • Freeze, Hudson H.;
    • Alexander, Warren S.;
    • Hilton, Douglas J.;
    • Kile, Benjamin T.
    Publication type:
    Article
    43

    Use of Copy Number Deletion Polymorphisms to Assess DNA Chimerism.

    Published in:
    Clinical Chemistry, 2014, v. 60, n. 8, p. 1105, doi. 10.1373/clinchem.2013.216077
    By:
    • Bruno, Damien L.;
    • Ganesamoorthy, Devika;
    • Thorne, Natalie P.;
    • Ling Ling;
    • Bahlo, Melanie;
    • Forrest, Sue;
    • Veenendaal, Marieke;
    • Katerelos, Marina;
    • Skene, Alison;
    • Ierino, Frank L.;
    • Power, David A.;
    • Slater, Howard R.
    Publication type:
    Article
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    Polycomb Repressive Complex 2 (PRC2) Restricts Hematopoietic Stem Cell Activity.

    Published in:
    PLoS Biology, 2008, v. 6, n. 4, p. e93, doi. 10.1371/journal.pbio.0060093
    By:
    • Majewski, Ian J.;
    • Blewitt, Marnie E.;
    • de Graaf, Carolyn A.;
    • McManus, Edward J.;
    • Bahlo, Melanie;
    • Hilton, Adrienne A.;
    • Hyland, Craig D.;
    • Smyth, Gordon K.;
    • Corbin, Jason E.;
    • Metcalf, Donald;
    • Alexander, Warren S.;
    • Hilton, Douglas J.
    Publication type:
    Article
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    Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 16, p. 4483, doi. 10.1093/hmg/ddv171
    By:
    • Damiano, John A.;
    • Afawi, Zaid;
    • Bahlo, Melanie;
    • Mauermann, Monika;
    • Misk, Adel;
    • Arsov, Todor;
    • Oliver, Karen L.;
    • Dahl, Hans-Henrik M.;
    • Shearer, A. Eliot;
    • Smith, Richard J. H.;
    • Hall, Nathan E.;
    • Mahmood, Khalid;
    • Leventer, Richard J.;
    • Scheffer, Ingrid E.;
    • Muona, Mikko;
    • Lehesjoki, Anna-Elina;
    • Korczyn, Amos D.;
    • Herrmann, Harald;
    • Berkovic, Samuel F.;
    • Hildebrand, Michael S.
    Publication type:
    Article
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    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888
    By:
    • Kaiser, Frank J.;
    • Ansari, Morad;
    • Braunholz, Diana;
    • Concepción Gil-Rodríguez, María;
    • Decroos, Christophe;
    • Wilde, Jonathan J.;
    • Fincher, Christopher T.;
    • Kaur, Maninder;
    • Bando, Masashige;
    • Amor, David J.;
    • Atwal, Paldeep S.;
    • Bahlo, Melanie;
    • Bowman, Christine M.;
    • Bradley, Jacquelyn J.;
    • Brunner, Han G.;
    • Clark, Dinah;
    • Del Campo, Miguel;
    • Di Donato, Nataliya;
    • Diakumis, Peter;
    • Dubbs, Holly
    Publication type:
    Article
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