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1.
An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X.
Am J Med Genet C Semin Med Genet
; : e32083, 2024 Mar 05.
Article
in English
| MEDLINE | ID: mdl-38441278
2.
Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: A population-based registry study.
Genet Med
; 26(1): 100987, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37781900
3.
Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network.
Am J Med Genet A
; 194(4): e63495, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38066696
4.
Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry.
Am J Med Genet A
; 194(2): 311-319, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37827984
5.
Neuropsychological and mental health concerns in a multicenter clinical sample of youth with turner syndrome.
Am J Med Genet A
; 191(4): 962-976, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36608170
6.
Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance.
J Genet Couns
; 32(1): 250-259, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36204975
7.
Hepatic abnormalities in youth with Turner syndrome.
Liver Int
; 42(10): 2237-2246, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35785515
8.
Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype.
Am J Med Genet A
; 185(5): 1437-1447, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33616298
9.
Minipuberty in Klinefelter syndrome: Current status and future directions.
Am J Med Genet C Semin Med Genet
; 184(2): 320-326, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32476267
10.
Morbidity in Klinefelter syndrome and the effect of testosterone treatment.
Am J Med Genet C Semin Med Genet
; 184(2): 344-355, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32496001
11.
Testicular function in boys with 47,XYY and relationship to phenotype.
Am J Med Genet C Semin Med Genet
; 184(2): 371-385, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32544298
12.
High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome.
Am J Med Genet C Semin Med Genet
; 184(2): 327-333, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32542985
13.
Automated syndrome diagnosis by three-dimensional facial imaging.
Genet Med
; 22(10): 1682-1693, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32475986
14.
Cardiometabolic health in Turner syndrome.
Am J Med Genet C Semin Med Genet
; 181(1): 52-58, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30775849
15.
The Turner syndrome research registry: Creating equipoise between investigators and participants.
Am J Med Genet C Semin Med Genet
; 181(1): 135-140, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30758128
16.
Profound hypokalemia associated with severe diabetic ketoacidosis.
Pediatr Diabetes
; 17(1): 61-5, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-25430801
17.
High Prevalence of Obstructive Sleep-Disordered Breathing in Pediatric Patients With Turner Syndrome.
Otolaryngol Head Neck Surg
; 170(3): 905-912, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37937707
18.
Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort.
JAMA Netw Open
; 7(3): e244113, 2024 Mar 04.
Article
in English
| MEDLINE | ID: mdl-38551561
19.
Multicenter Analysis of Cardiometabolic-Related Diagnoses in Youth with Congenital Adrenal Hyperplasia: a PEDSnet study.
J Clin Endocrinol Metab
; 2024 May 24.
Article
in English
| MEDLINE | ID: mdl-38783717
20.
The human Y and inactive X chromosomes similarly modulate autosomal gene expression.
Cell Genom
; 4(1): 100462, 2024 Jan 10.
Article
in English
| MEDLINE | ID: mdl-38190107