Detalhe da pesquisa
1.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Am J Hum Genet
; 110(11): 1919-1937, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827158
2.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
3.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Am J Hum Genet
; 107(6): 1062-1077, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217309
4.
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Pediatr Nephrol
; 38(2): 605-609, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35695966
5.
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Am J Hum Genet
; 103(6): 968-975, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414627
6.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Genet Med
; 23(6): 1075-1085, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33580225
7.
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.
J Hum Genet
; 66(7): 717-724, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33517344
8.
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Am J Med Genet A
; 185(2): 544-548, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33184947
9.
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Am J Med Genet A
; 185(7): 2190-2197, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33931933
10.
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants.
Hum Mutat
; 41(7): 1298-1307, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196812
11.
Functional Genomics of ABCA3 Variants.
Am J Respir Cell Mol Biol
; 63(4): 436-443, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32692933
12.
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Am J Med Genet A
; 182(5): 1053-1065, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32083401
13.
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Am J Respir Cell Mol Biol
; 70(1): 78-80, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156804
14.
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.
J Pediatr
; 194: 158-164.e1, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198536
15.
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
Pediatr Res
; 84(3): 435-441, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967526
16.
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Hum Mutat
; 38(11): 1477-1484, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726266
17.
Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.
Am J Respir Cell Mol Biol
; 55(5): 716-721, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374344
18.
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
Am J Respir Crit Care Med
; 189(12): 1538-43, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24871971
19.
Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.
J Pediatr
; 164(6): 1316-21.e3, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24657120
20.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
; 384(6694): eadf5489, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662826