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Rafehi, Haloom
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1

Experience of the first adult-focussed undiagnosed disease ..:

Wallis, Mathew ; Bodek, Simon D. ; Munro, Jacob...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Genome and RNA sequencing boost neuromuscular diagnoses to ..:

Marchant, Rhett G. ; Bryen, Samantha J. ; Bahlo, Melanie...
Annals of Clinical and Translational Neurology.  11 (2024)  5 - p. 1250-1266 , 2024
Link: https://doi.org/10.1002/..
 
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3

Exploring THAP11 Repeat Expansion beyond Chinese‐Ancestry C..:

Fearnley, Liam G. ; Rafehi, Haloom ; Bennett, Mark F..
Movement Disorders.  38 (2023)  12 - p. 2320-2322 , 2023
Link: https://doi.org/10.1002/..
 
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4

Reduced methylation correlates with diabetic nephropathy ri..:

Khurana, Ishant ; Kaipananickal, Harikrishnan ; Maxwell, Scott...
Journal of Clinical Investigation.  133 (2023)  4 - p. , 2023
Link: https://doi.org/10.1172/..
 
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5

An intronic GAA repeat expansion in FGF14 causes the autoso..:

Rafehi, Haloom ; Read, Justin ; Szmulewicz, David J....
The American Journal of Human Genetics.  110 (2023)  6 - p. 1018 , 2023
Link: https://doi.org/10.1016/..
 
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6

Detection and discovery of repeat expansions in ataxia enab..:

Rafehi, Haloom ; Bennett, Mark F. ; Bahlo, Melanie.
Emerging Topics in Life Sciences.  7 (2023)  3 - p. 349-359 , 2023
Link: https://doi.org/10.1042/..
 
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7

An intronic GAA repeat expansion in FGF14 causes the autoso..:

Rafehi, Haloom ; Read, Justin ; Szmulewicz, David J....
The American Journal of Human Genetics.  110 (2023)  1 - p. 105-119 , 2023
Link: https://doi.org/10.1016/..
 
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8

Characterization of K562 cells: uncovering novel chromosome..:

Karagiannis, Tom C. ; Wall, Meaghan ; Ververis, Katherine...
Cellular and Molecular Life Sciences.  80 (2023)  9 - p. , 2023
Link: https://doi.org/10.1007/..
 
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9

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosi..:

Rosenbohm, Angela ; Pott, Hendrik ; Thomsen, Mirja...
Movement Disorders.  37 (2022)  12 - p. 2427-2439 , 2022
Link: https://doi.org/10.1002/..
 
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10

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Ty..:

Barbier, Mathieu ; Bahlo, Melanie ; Pennisi, Alessandra...
Annals of Neurology.  92 (2022)  1 - p. 122-137 , 2022
Link: https://doi.org/10.1002/..
 
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11

Unexpected diagnosis of myotonic dystrophy type 2 repeat ex..:

Rafehi, Haloom ; Green, Cherie ; Bozaoglu, Kiymet...
European Journal of Human Genetics.  31 (2022)  1 - p. 122-124 , 2022
Link: https://doi.org/10.1038/..
 
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12

Sex-Specific Control of Human Heart Maturation by the Proge..:

Sim, Choon Boon ; Phipson, Belinda ; Ziemann, Mark...
Circulation.  143 (2021)  16 - p. 1614-1628 , 2021
Link: https://doi.org/10.1161/..
 
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13

The clinical utility of exome sequencing and extended bioin..:

Eratne, Dhamidhu ; Schneider, Amy ; Lynch, Ella...
Journal of the Neurological Sciences.  420 (2021)  - p. 117260 , 2021
Link: https://doi.org/10.1016/..
 
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14

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Gen..:

Rafehi, Haloom ; Szmulewicz, David J. ; Pope, Kate...
Movement Disorders.  35 (2020)  9 - p. 1675-1679 , 2020
Link: https://doi.org/10.1002/..
 
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15

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repea..:

Bennett, Mark F. ; Oliver, Karen L. ; Regan, Brigid M....
European Journal of Human Genetics.  28 (2020)  7 - p. 973-978 , 2020
Link: https://doi.org/10.1038/..
 
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