Detalhe da pesquisa
1.
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
Proc Natl Acad Sci U S A
; 120(21): e2302584120, 2023 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186866
2.
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Am J Hum Genet
; 109(8): 1472-1483, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931051
3.
The best of both worlds: Blending cutting-edge research with clinical processes for a productive exome clinic.
Clin Genet
; 105(1): 62-71, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853563
4.
The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders.
J Genet Couns
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562053
5.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Am J Hum Genet
; 106(6): 830-845, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442410
6.
Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
J Genet Couns
; 32(5): 993-1008, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005744
7.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Am J Hum Genet
; 105(4): 854-868, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585109
8.
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
J Genet Couns
; 31(1): 59-70, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115423
9.
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Genet Med
; 23(8): 1514-1521, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33846581
10.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Genet Med
; 23(2): 259-271, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33093671
11.
Men with an FMR1 premutation and their health education needs.
J Genet Couns
; 30(4): 1156-1167, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33788978
12.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet
; 27(14): 2454-2465, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726930
13.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132692
14.
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.
Genet Med
; 22(7): 1269-1275, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32366967
15.
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Genet Med
; 21(1): 161-172, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907797
16.
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.
Clin Genet
; 96(6): 521-531, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448412
17.
HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Am J Med Genet A
; 179(10): 2049-2055, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31400068
18.
Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.
J Genet Couns
; 28(2): 194-201, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30680851
19.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genet Med
; 20(4): 464-469, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28914269
20.
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.
J Hum Genet
; 63(12): 1211-1222, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30250212