Detalhe da pesquisa
1.
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.
Am J Med Genet C Semin Med Genet
; 193(1): 44-55, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36876995
2.
Are we prepared to deliver gene-targeted therapies for rare diseases?
Am J Med Genet C Semin Med Genet
; 193(1): 7-12, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36691939
3.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Mol Genet Metab
; 140(1-2): 107715, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907381
4.
Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.
Am J Med Genet C Semin Med Genet
; 190(2): 197-205, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36152336
5.
Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency.
Mol Genet Metab
; 135(3): 186-192, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120844
6.
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Am J Med Genet A
; 188(4): 1124-1141, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35107211
7.
Creatine kinase-MM concentration in dried blood spots from newborns and implications for newborn screening for Duchenne muscular dystrophy.
Muscle Nerve
; 65(6): 652-658, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35307847
8.
Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.
Hum Mol Genet
; 28(2): 332-340, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30281099
9.
Genomic analyses in African populations identify novel risk loci for cleft palate.
Hum Mol Genet
; 28(6): 1038-1051, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30452639
10.
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
Mol Genet Metab
; 134(1-2): 60-64, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34389248
11.
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.
Genet Med
; 22(8): 1296-1302, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32418989
12.
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Genet Med
; 21(3): 631-640, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093709
13.
Clinical models of telehealth in genetics: A regional telegenetics landscape.
J Genet Couns
; 28(3): 673-691, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825358
14.
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.
Genet Med
; 20(6): 608-613, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758563
15.
Copy number variants in hypoplastic right heart syndrome.
Am J Med Genet A
; 176(12): 2760-2767, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289599
16.
Idiopathic T cell lymphopenia identified in New York State Newborn Screening.
Clin Immunol
; 183: 36-40, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28694137
17.
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Clin Chem
; 63(4): 842-851, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28196920
18.
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.
J Hum Genet
; 62(10): 877-884, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28539665
19.
Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.
Am J Med Genet A
; 173(2): 352-359, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27901321
20.
The influence of seasonality and manufacturer kit lot changes on 17α-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns.
Eur J Pediatr
; 176(1): 121-129, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27900477