Search details
1.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain
; 145(4): 1507-1518, 2022 05 24.
Article
in English
| MEDLINE | ID: mdl-34791078
2.
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
J Med Genet
; 59(6): 605-612, 2022 06.
Article
in English
| MEDLINE | ID: mdl-33910934
3.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Hum Mutat
; 43(6): 717-733, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35178824
4.
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Hum Mutat
; 42(6): 787-795, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33739559
5.
Severe brain involvement in 5q spinal muscular atrophy type 0.
Ann Neurol
; 86(3): 458-462, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31301241
6.
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.
Clin Immunol
; 195: 49-58, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30063981
7.
Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".
Ann Neurol
; 86(5): 803, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31502291
8.
Cord blood-derived neuronal cells by ectopic expression of Sox2 and c-Myc.
Proc Natl Acad Sci U S A
; 109(31): 12556-61, 2012 Jul 31.
Article
in English
| MEDLINE | ID: mdl-22814375
9.
A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms.
Proteins
; 82(1): 103-18, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-23900790
10.
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.
J Neurol
; 271(6): 3546-3553, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38549004
11.
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
J Neuromuscul Dis
; 2024 May 13.
Article
in English
| MEDLINE | ID: mdl-38759022
12.
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.
Eur J Hum Genet
; 32(2): 182-189, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37926714
13.
DNA hypermethylation in somatic cells correlates with higher reprogramming efficiency.
Stem Cells
; 30(8): 1696-702, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22653871
14.
Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases.
Cell Genom
; 3(2): 100246, 2023 Feb 08.
Article
in English
| MEDLINE | ID: mdl-36819661
15.
A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.
Nat Commun
; 13(1): 5902, 2022 10 06.
Article
in English
| MEDLINE | ID: mdl-36202811
16.
Regeneration and reprogramming compared.
BMC Biol
; 8: 5, 2010 Jan 20.
Article
in English
| MEDLINE | ID: mdl-20089153
17.
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
J Clin Endocrinol Metab
; 106(1): e152-e170, 2021 01 01.
Article
in English
| MEDLINE | ID: mdl-33029631
18.
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Eur J Hum Genet
; 29(9): 1359-1368, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34075211
19.
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia. / Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria.
Arch Bronconeumol (Engl Ed)
; 57(3): 186-194, 2021 Mar.
Article
in English, Spanish
| MEDLINE | ID: mdl-32253119
20.
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.
Front Immunol
; 11: 46, 2020.
Article
in English
| MEDLINE | ID: mdl-32117230