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1.
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Acta Neuropathol
; 138(6): 1013-1031, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31463572
2.
A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.
Neurogenetics
; 19(1): 61-65, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29247375
3.
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.
Clin Genet
; 94(3-4): 303-312, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29851065
4.
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
Clin Genet
; 93(2): 301-309, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28708278
5.
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.
Clin Genet
; 91(3): 426-430, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27684565
6.
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
Clin Genet
; 91(5): 708-716, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-27718516
7.
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Clin Genet
; 91(1): 92-99, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27102954
8.
Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
Clin Genet
; 92(3): 281-289, 2017 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-28170084
9.
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Clin Genet
; 89(3): 275-84, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26283276
10.
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Clin Genet
; 88(1): 34-40, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25046240
11.
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
Clin Genet
; 88(6): 558-64, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25589244
12.
Whole-exome sequencing expands the phenotype of Hunter syndrome.
Clin Genet
; 86(2): 172-6, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23844659
13.
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Clin Genet
; 86(6): 558-63, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24164096
14.
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
Neurogenetics
; 14(3-4): 181-8, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23733235
15.
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
Nat Genet
; 19(3): 264-7, 1998 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-9662400
16.
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.
Clin Genet
; 78(5): 424-31, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20618352
17.
Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.
Clin Genet
; 86(4): 394-5, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24635597
18.
Mining the transcriptome for rare disease therapies: a comparison of the efficiencies of two data mining approaches and a targeted cell-based drug screen.
NPJ Genom Med
; 2: 14, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29263829
19.
Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
Eur J Med Genet
; 60(7): 359-364, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28377321
20.
Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.
Can J Ophthalmol
; 35(4): 204-13, 2000 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-10900517