Detalhe da pesquisa
1.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Hum Mol Genet
; 31(21): 3729-3740, 2022 10 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35652444
2.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36757831
3.
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Clin Genet
; 104(1): 121-126, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36896672
4.
5p13 microduplication in a malformed fetus and his unaffected father.
Am J Med Genet A
; 191(2): 370-377, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36322476
5.
Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
Hum Mutat
; 43(12): 1994-2009, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36054293
6.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Am J Hum Genet
; 105(6): 1294-1301, 2019 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31761294
7.
Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.
Can J Neurol Sci
; 49(5): 651-661, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34353391
8.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clin Genet
; 100(3): 268-279, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33988253
9.
Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
Hum Mutat
; 41(5): 906-912, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31930626
10.
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Hum Mutat
; 41(9): 1615-1628, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32579715
11.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Hum Mol Genet
; 27(20): 3475-3487, 2018 10 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29931299
12.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Am J Hum Genet
; 101(5): 815-823, 2017 Nov 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29100092
13.
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Am J Hum Genet
; 100(2): 216-227, 2017 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28065471
14.
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.
Clin Genet
; 97(6): 915-919, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32112393
15.
Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis.
PLoS Genet
; 13(10): e1007047, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-29028795
16.
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
Hum Mutat
; 40(2): 217-229, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30431684
17.
Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Clin Genet
; 95(6): 718-725, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30950035
18.
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
Am J Med Genet A
; 179(8): 1547-1555, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31184804
19.
Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
Am J Med Genet A
; 179(7): 1214-1225, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31069901
20.
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Hum Mutat
; 39(10): 1349-1354, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30016581