Detalhe da pesquisa
1.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
2.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102099
3.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
4.
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
Mol Genet Metab
; 140(1-2): 107633, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414610
5.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
J Med Genet
; 59(10): 965-975, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930816
6.
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Am J Hum Genet
; 105(1): 108-121, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204009
7.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 103(5): 666-678, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343943
8.
Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance.
Am J Med Genet A
; 185(1): 261-266, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098377
9.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
10.
Kabuki syndrome: international consensus diagnostic criteria.
J Med Genet
; 56(2): 89-95, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30514738
11.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
12.
Ultra-rapid whole genome sequencing: A paradigm shift in the pre-transplant evaluation of neonatal acute liver failure.
Liver Transpl
; 29(1): 118-121, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861277
13.
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
Am J Kidney Dis
; 72(2): 302-308, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395486
14.
Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients.
Am J Med Genet A
; 176(12): 2911-2914, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450804
15.
Clinical and genetic characterization of AP4B1-associated SPG47.
Am J Med Genet A
; 176(2): 311-318, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193663
16.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain
; 140(9): 2337-2354, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050392
17.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Am J Hum Genet
; 104(3): 562, 2019 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30849329
18.
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
Am J Med Genet A
; 173(5): 1328-1333, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28322501
19.
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
Am J Med Genet A
; 167A(5): 1111-6, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712426
20.
Important Considerations in the Initial Clinical Evaluation of the Dysmorphic Neonate.
Adv Neonatal Care
; 15(4): 248-52, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26225593