Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
2.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377026
3.
Characteristic physical traits of first-grade children in the United States with fetal alcohol spectrum disorders (FASD) and associated alcohol and drug exposures.
Am J Med Genet A
; 188(7): 2019-2035, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35357075
4.
The prevalence of fetal alcohol spectrum disorders in rural communities in South Africa: A third regional sample of child characteristics and maternal risk factors.
Alcohol Clin Exp Res
; 46(10): 1819-1836, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971629
5.
Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center.
J Genet Couns
; 31(6): 1282-1289, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781721
6.
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
Hum Mol Genet
; 28(6): 952-960, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476144
7.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652576
8.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Am J Med Genet A
; 185(6): 1649-1665, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783954
9.
Fetal alcohol spectrum disorders: current state of diagnosis and treatment.
Curr Opin Pediatr
; 33(6): 570-575, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34636348
10.
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.
Clin Genet
; 97(3): 502-508, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31650526
11.
Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.
Am J Med Genet A
; 182(9): 2021-2026, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32524756
12.
Ocular measurements in fetal alcohol spectrum disorders.
Am J Med Genet A
; 182(10): 2243-2252, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677343
13.
Rubinstein-Taybi syndrome in diverse populations.
Am J Med Genet A
; 182(12): 2939-2950, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32985117
14.
Fetal Alcohol Spectrum Disorders in a Southeastern County of the United States: Child Characteristics and Maternal Risk Traits.
Alcohol Clin Exp Res
; 44(4): 939-959, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293734
15.
Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence.
Alcohol Clin Exp Res
; 44(4): 919-938, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293735
16.
Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence.
Alcohol Clin Exp Res
; 44(4): 900-918, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293732
17.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206972
18.
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Genet Med
; 21(4): 887-895, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214072
19.
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain
; 140(11): 2838-2850, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29088354
20.
Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities.
JAMA
; 319(5): 474-482, 2018 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29411031