Detalhe da pesquisa
1.
Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.
Prenat Diagn
; 44(3): 369-372, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38163266
2.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Prenat Diagn
; 44(2): 237-246, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632214
3.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Genet Med
; 25(1): 63-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399132
4.
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
Am J Med Genet A
; 191(4): 977-982, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36610046
5.
Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
Am J Med Genet A
; 188(5): 1396-1406, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35018708
6.
Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report.
J Pediatr Hematol Oncol
; 44(5): e914-e917, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35398865
7.
Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity.
Mol Genet Metab
; 133(4): 378-385, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34154922
8.
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
Am J Med Genet A
; 185(5): 1486-1493, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683002
9.
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Genet Med
; 21(7): 1585-1593, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30514889
10.
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(6): 100812, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37058144
11.
Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(3): 512-520, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253645
12.
Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder.
J Investig Med High Impact Case Rep
; 11: 23247096231154438, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36752093
13.
Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.
J Investig Med High Impact Case Rep
; 10: 23247096221101844, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35638718
14.
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study.
Orphanet J Rare Dis
; 15(1): 336, 2020 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33256811
15.
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
Orphanet J Rare Dis
; 11(1): 130, 2016 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683084