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Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
Genes (Basel). 2022 Dec 24;14(1):62. doi: 10.3390/genes14010062.
Genes (Basel). 2022.
PMID: 36672801
Free PMC article.
Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.
Strong A, Simone L, Krentz A, Vaccaro C, Watson D, Ron H, Kalish JM, Pedro HF, Zackai EH, Hakonarson H.
Strong A, et al.
Am J Med Genet A. 2021 Aug;185(8):2409-2416. doi: 10.1002/ajmg.a.62337. Epub 2021 Jun 15.
Am J Med Genet A. 2021.
PMID: 34132027
Free PMC article.
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X-Autosome translocations: X-inactivation and effect on phenotype.
Strong A, Callahan KP, Guo R, Ron H, Zackai EH.
Strong A, et al.
Clin Dysmorphol. 2021 Oct 1;30(4):186-188. doi: 10.1097/MCD.0000000000000381.
Clin Dysmorphol. 2021.
PMID: 34148988
Free PMC article.
No abstract available.
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Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature.
Ron HA, Scobell R, Strong A, Salazar EG, Ganetzky R.
Ron HA, et al.
Am J Med Genet A. 2022 Nov;188(11):3312-3317. doi: 10.1002/ajmg.a.62956. Epub 2022 Aug 16.
Am J Med Genet A. 2022.
PMID: 35972040
Free PMC article.
Review.
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