P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

Bibliographic Details
Main Authors:	Ruby Liu, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Madhuri Hegde
Format:	Article
Language:	English
Published:	Elsevier 2024-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774424006514

Similar Items

P502: How does multiomics help variant reclassification?
by: Ruby Liu, et al.
Published: (2023-01-01)

P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene
by: Naga Guruju, et al.
Published: (2024-01-01)

P476: Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping*
by: Naga Guruju, et al.
Published: (2023-01-01)

P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders
by: Babi Ramesh Reddy Nallamilli, et al.
Published: (2024-01-01)

P519: Evidence of complex inheritance patterns in limb-girdle and other muscular dystrophies: Synergistic heterozygosity and multigenic inheritance
by: Madhuri Hegde, et al.
Published: (2023-01-01)

P518: Limb-girdle muscular dystrophy and other myopathy patients diagnostic yield in large cohort of more than 6000 patients*
by: Babi Nallamilli, et al.
Published: (2023-01-01)

P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis
by: Yinghong Pan, et al.
Published: (2024-01-01)

P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset
by: Jorune Balciuniene, et al.
Published: (2023-01-01)

P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing
by: Lora Bean, et al.
Published: (2023-01-01)

P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test*
by: Fen Guo, et al.
Published: (2023-01-01)

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies
by: Babi R. R. Nallamilli, et al.
Published: (2023-11-01)

P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging
by: Jorune Balciuniene, et al.
Published: (2024-01-01)

New pathologic mechanisms in nucleotide repeat expansion disorders
by: C.M. Rodriguez, et al.
Published: (2019-10-01)

Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase
by: Ana S. Figueiredo, et al.
Published: (2023-03-01)

Spinal muscular atrophy.
by: Talbot, K, et al.
Published: (2001)

Spinal muscular atrophy
by: D'Amico Adele, et al.
Published: (2011-11-01)

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases
by: Matthew E R Butchbach, et al.
Published: (2016-03-01)

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study.
by: Thomas O Crawford, et al.
Published: (2012-01-01)

Spinal muscular atrophy (Werdnig‑Hoffmann atrophy disease)
by: Mariana A. RYZNYCHUK, et al.
Published: (2018-06-01)

Rehabilitation in spinal muscular atrophy
by: Agus Iwan Foead, et al.
Published: (2019-01-01)

Rehabilitation in spinal muscular atrophy
by: Joanna Iłżecka
Published: (2021-05-01)

Nusinersen for spinal muscular atrophy
by: Claudia D. Wurster, et al.
Published: (2018-03-01)

Spinal muscular atrophy and ependymoma
by: Aishah Albakr, et al.
Published: (2017-01-01)

Neuronal involvement in muscular atrophy
by: Bruno Alejandro Cisterna, et al.
Published: (2014-12-01)

Construction services welding : examination paper no. 599 /
by: City and Guilds of London Institute
Published: ([19-)

Histerectomía laparoscópica en 1 599 pacientes
by: Javier Ernesto Barreras González, et al.

DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level.
by: Claudia Huichalaf, et al.
Published: (2014-01-01)

Identification of high-copy number long terminal repeat retrotransposons and their expansion in Phalaenopsis orchids
by: Chia-Chi Hsu, et al.
Published: (2020-11-01)

P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic
by: Mary Colasanto, et al.
Published: (2024-01-01)

Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy
by: Pu Fang, et al.
Published: (2020-04-01)

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.
by: Karen N McFarland, et al.
Published: (2015-01-01)

Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
by: Lora J. H. Bean, et al.
Published: (2017-12-01)

Modeling spinal muscular atrophy in Drosophila.
by: Chang, H, et al.
Published: (2008)

Chapter 16 Spinal Muscular Atrophy
by: Talbot, K, et al.
Published: (2003)

Metabolic Dysfunction in Spinal Muscular Atrophy
by: Marc-Olivier Deguise, et al.
Published: (2021-05-01)

Mitochondrial Dysfunction in Spinal Muscular Atrophy
by: Eleonora Zilio, et al.
Published: (2022-09-01)

Editorial: Advances in spinal muscular atrophy
by: Jianli Sun
Published: (2023-03-01)

Spinal Muscular Atrophy With Myoclonic Epilepsy
by: Buket ÖZKARA, et al.
Published: (2017-04-01)

Advances in spinal muscular atrophy therapeutics
by: Valeria Parente, et al.
Published: (2018-02-01)

The Neurobiology of Childhood Spinal Muscular Atrophy
by: Thomas O. Crawford, et al.
Published: (1996-04-01)