Detalhe da pesquisa
1.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
2.
Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.
Prenat Diagn
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38635411
3.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059922
4.
RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models.
Clin Genet
; 104(6): 669-673, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37864412
5.
Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.
Clin Genet
; 104(4): 466-471, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243350
6.
An automatic facial landmarking for children with rare diseases.
Am J Med Genet A
; 191(5): 1210-1221, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714960
7.
A 22q13.1 duplication in mosaicism including SOX10.
Am J Med Genet A
; 191(12): 2813-2818, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37533297
8.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Hum Mutat
; 43(5): 582-594, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170830
9.
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations.
Hum Mol Genet
; 29(6): 980-989, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32011699
10.
Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.
Am J Med Genet A
; 188(5): 1600-1606, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35060672
11.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445792
12.
Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Genet Med
; 23(3): 479-487, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33100333
13.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Am J Hum Genet
; 101(6): 1006-1012, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198720
14.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Am J Hum Genet
; 101(4): 630-637, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965846
15.
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Retina
; 40(8): 1603-1615, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479088
16.
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Br J Haematol
; 187(4): 530-542, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31338833
17.
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Clin Genet
; 95(1): 177-181, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30298622
18.
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.
Am J Med Genet A
; 179(9): 1756-1763, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31241255
19.
Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.
Adv Exp Med Biol
; 1185: 233-238, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884617
20.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood
; 127(23): 2903-14, 2016 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912466