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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14.
HGG Adv. 2022.
PMID: 35599849
Free PMC article.
Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result.
Predham S, Hathaway J, Hulait G, Arbour L, Lehman A.
Predham S, et al.
J Genet Couns. 2017 Feb;26(1):150-158. doi: 10.1007/s10897-016-9991-4. Epub 2016 Jul 2.
J Genet Couns. 2017.
PMID: 27369690
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Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols.
Langlois S, Armstrong L, Gall K, Hulait G, Livingston J, Nelson T, Power P, Pugash D, Siciliano D, Steinraths M, Mattman A.
Langlois S, et al.
Prenat Diagn. 2009 Oct;29(10):966-74. doi: 10.1002/pd.2326.
Prenat Diagn. 2009.
PMID: 19609942
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Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, Cuccuru G, Van Allen MI, Hulait G, Aubertin G, Muntoni F, Fry AE, Annerén G, Stattin EL, Palomares-Bralo M, Santos-Simarro F, Cucca F, Crisponi G, Rutsch F, Crisponi L.
Angius A, et al.
Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28.
Clin Genet. 2019.
PMID: 30859550
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Maternal serum screening in triploidy.
McFadden DE, Hulait G, Lockitch G, Langlois S.
McFadden DE, et al.
Prenat Diagn. 2002 Dec;22(12):1113-4. doi: 10.1002/pd.477.
Prenat Diagn. 2002.
PMID: 12454969
No abstract available.
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