Detalhe da pesquisa
1.
AD-Syn-Net: systematic identification of Alzheimer's disease-associated mutation and co-mutation vulnerabilities via deep learning.
Brief Bioinform
; 24(2)2023 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36752347
2.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Blood
; 137(4): 493-499, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905580
3.
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
J Allergy Clin Immunol
; 149(2): 758-766, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329649
4.
A Genocentric Approach to Discovery of Mendelian Disorders.
Am J Hum Genet
; 105(5): 974-986, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668702
5.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Genet Med
; 24(4): 784-797, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148959
6.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
; 24(3): 631-644, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906488
7.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 24(10): 2187-2193, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962790
8.
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
; 103(5): 794-807, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401460
9.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Am J Hum Genet
; 102(6): 1126-1142, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805043
10.
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Brain
; 143(1): 112-130, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794024
11.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Hum Mutat
; 41(2): 487-501, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31692161
12.
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
N Engl J Med
; 376(1): 21-31, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27959697
13.
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Genet Med
; 22(11): 1768-1776, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32655138
14.
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Blood
; 132(1): 89-100, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29632024
15.
Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Am J Med Genet A
; 182(6): 1387-1399, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32233023
16.
Insights into genetics, human biology and disease gleaned from family based genomic studies.
Genet Med
; 21(4): 798-812, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655598
17.
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
Clin Genet
; 96(4): 366-370, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31309540
18.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Am J Hum Genet
; 97(2): 199-215, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166479
19.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 25(5): 100799, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36853234
20.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
J Allergy Clin Immunol
; 139(1): 232-245, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577878