Hidden in plain sight: genome reanalysis to identify an intragenic novel variant in the SMN locus in a patient with an undiagnosed lower motor neuron disease

G. Haliloglu; S. Donkervoort; B. Weisburd; S. Oz Yildiz; S. Ceylaner; L. Pais; A. O'Donnell-Luria; C. Bonnemann

doi:10.1016/j.nmd.2024.07.031

Hidden in plain sight: genome reanalysis to identify an intragenic novel variant in the SMN locus in a patient with an undiagnosed lower motor neuron disease

G. Haliloglu
, S. Donkervoort
, B. Weisburd
, S. Oz Yildiz
, S. Ceylaner
, L. Pais
, A. O'Donnell-Luria
, C. Bonnemann

National Institutes of Health (NIH) - USA
Harvard University
Hacettepe University
Intergen Genetic Diseases Diagnosis Center

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Number of pages	1
Journal	Neuromuscular Disorders
Volume	43
Early online date	Oct 2024
DOIs	https://doi.org/10.1016/j.nmd.2024.07.031
Publication status	Published - Oct 2024
Event	29th International Congress of the World-Muscle-Society (WMS) - Prague, Czech Republic Duration: 8 Oct 2024 → 12 Oct 2024

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10.1016/j.nmd.2024.07.031

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@article{22ed65ff92834097986ece8ca04f5541,

title = "Hidden in plain sight: genome reanalysis to identify an intragenic novel variant in the SMN locus in a patient with an undiagnosed lower motor neuron disease",

author = "G. Haliloglu and S. Donkervoort and B. Weisburd and Yildiz, \{S. Oz\} and S. Ceylaner and L. Pais and A. O'Donnell-Luria and C. Bonnemann",

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doi = "10.1016/j.nmd.2024.07.031",

language = "English",

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T1 - Hidden in plain sight

T2 - 29th International Congress of the World-Muscle-Society (WMS)

AU - Haliloglu, G.

AU - Donkervoort, S.

AU - Weisburd, B.

AU - Yildiz, S. Oz

AU - Ceylaner, S.

AU - Pais, L.

AU - O'Donnell-Luria, A.

AU - Bonnemann, C.

PY - 2024/10

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DO - 10.1016/j.nmd.2024.07.031

M3 - Meeting Abstract

SN - 0960-8966

VL - 43

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

Y2 - 8 October 2024 through 12 October 2024

ER -

Hidden in plain sight: genome reanalysis to identify an intragenic novel variant in the SMN locus in a patient with an undiagnosed lower motor neuron disease

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