Detalhe da pesquisa
1.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36130591
2.
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Am J Med Genet A
; 194(3): e63445, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37872713
3.
Neonatal lupus is a novel cause of positive newborn screening for X-linked adrenoleukodystrophy.
Am J Med Genet A
; 191(5): 1412-1417, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36863699
4.
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Am J Med Genet A
; 191(6): 1492-1501, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36883293
5.
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
J Inherit Metab Dis
; 45(6): 1106-1117, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36093991
6.
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 199, 2021 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-34404389
7.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33597769
8.
A high-throughput screen of real-time ATP levels in individual cells reveals mechanisms of energy failure.
PLoS Biol
; 16(8): e2004624, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30148842
9.
Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.
Brain
; 143(2): 503-511, 2020 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31840744
10.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Am J Med Genet A
; 182(3): 513-520, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31880405
11.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31206972
12.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30817854
13.
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Hum Mol Genet
; 26(24): 4849-4860, 2017 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29036646
14.
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
N Engl J Med
; 375(22): 2165-2176, 2016 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27959755
15.
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
Am J Med Genet A
; 176(4): 997-1000, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29575628
16.
The role of mitochondrially derived ATP in synaptic vesicle recycling.
J Biol Chem
; 290(37): 22325-36, 2015 Sep 11.
Artigo
Inglês
| MEDLINE | ID: mdl-26126824
17.
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 288, 2021 Nov 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34732190
18.
19.
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).
Am J Med Genet A
; 164A(8): 2079-83, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24818805
20.
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair.
Mol Genet Metab Rep
; 30: 100845, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35242576