Haloom Rafehi

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data

Haloom Rafehi, David J Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan M White, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo

Journal article  |  2020  |  MOVEMENT DISORDERS

BACKGROUND: Spinocerebellar ataxias are often caused by expansions of short tandem repeats. Recent methodological advances have ma..

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew Coleman, Michael S Hildebrand, Mark A Corbett, Thessa Kroes, Jozef Gecz, Ingrid E Scheffer, Samuel F Berkovic, Melanie Bahlo

Journal article  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Familial adult myoclonic epilepsy 1 (FAME1), first recognised in Japanese families, was recently shown to be caused by a TTTCA rep..

Familial Adult Myoclonic Epilepsy, Caused By A Pentanucleotide Repeat TTTCA Insertion In SAMD12, In Indian And Sri Lankan Families Extends The Occurrence Of This Mutation To A Wide Region Of Southern Asia

MF Bennett, H Rafehi, KL Oliver, AL Schneider, BM Regan, ST Bellows, MA Corbett, T Kroes, J Gecz, MS Hildebrand, IE Scheffer, SF Berkovic, M Bahlo

Conference Proceedings  |  2019  |  EPILEPSIA

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Rahel T Florian, Florian Kraft, Elsa Leitao, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kuehnel, Christopher Schroeder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, AnaiDe lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, et al.

Journal article  |  2019  |  NATURE COMMUNICATIONS

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. In..

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara LM Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle, Maria Garcia Barcina, David P Breen, Andrew M Chancellor, Phillip D Cremer, Martin B Delatycki, Brent L Fogel, Anna Hackett, G Michael Halmagyi, Solange Kapetanovic, Anthony Lang, et al.

Journal article  |  2019  |  AMERICAN JOURNAL OF HUMAN GENETICS

Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. How..

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

Sarah EM Stephenson, Ruth Djaldetti, Haloom Rafehi, Gabrielle R Wilson, Greta Gillies, Melanie Bahlo, Paul J Lockhart

Journal article  |  2019  |  PARKINSONISM & RELATED DISORDERS

BACKGROUND: Bi-allelic mutations in PARK7 are a rare cause of autosomal recessive early onset Parkinson's disease (EO-PD). To date..