Detalhe da pesquisa
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387458
2.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Am J Hum Genet
; 111(4): 729-741, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579670
3.
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.
Am J Hum Genet
; 108(10): 1946-1963, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34529933
4.
Data from electronic healthcare records expand our understanding of X-linked genetic diseases.
Am J Med Genet A
; 194(5): e63527, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38229216
5.
Probable digenic inheritance of Diamond-Blackfan anemia.
Am J Med Genet A
; 194(3): e63454, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37897121
6.
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
Am J Med Genet A
; : e63597, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511854
7.
The Genetic Landscape of Familial Pulmonary Fibrosis.
Am J Respir Crit Care Med
; 207(10): 1345-1357, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36622818
8.
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
Hum Genet
; 142(4): 483-494, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797380
9.
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency.
Am J Med Genet A
; 191(12): 2873-2877, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37622199
10.
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
Am J Med Genet A
; 191(10): 2482-2492, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246601
11.
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
Hum Mutat
; 43(12): 1816-1823, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317458
12.
Efficacy of virtual and asynchronous teaching of computer-assisted diagnosis of genetic diseases seen in clinics.
Am J Med Genet A
; 188(4): 1142-1148, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34967985
13.
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Hum Genet
; 140(4): 667-680, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33469725
14.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290151
15.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
N Engl J Med
; 379(22): 2131-2139, 2018 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304647
16.
Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.
Am J Med Genet A
; 185(4): 1222-1227, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415784
17.
Histopathologic analysis of extracted thrombi from deep venous thrombosis and pulmonary embolism: Mechanisms and timing.
Catheter Cardiovasc Interv
; 97(7): 1422-1429, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522027
18.
Development and Progression of Radiologic Abnormalities in Individuals at Risk for Familial Interstitial Lung Disease.
Am J Respir Crit Care Med
; 201(10): 1230-1239, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32011901
19.
Defining the clinical phenotype of Saul-Wilson syndrome.
Genet Med
; 22(5): 857-866, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949312
20.
Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Am J Med Genet A
; 182(6): 1400-1406, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32190976