Gilmore KL - Search Results

1

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.

Muir CR, Gilmore KL, Singh S, Vora NL. Muir CR, et al. Among authors: gilmore kl. Prenat Diagn. 2025 Jan 5. doi: 10.1002/pd.6736. Online ahead of print. Prenat Diagn. 2025. PMID: 39757347

2

Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin-Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features.

Veazey RA, Fisher AJ, Talati AN, Hardisty E, Gilmore KL, Vora NL. Veazey RA, et al. Among authors: gilmore kl. Prenat Diagn. 2024 Nov;44(12):1522-1525. doi: 10.1002/pd.6683. Epub 2024 Oct 10. Prenat Diagn. 2024. PMID: 39389935 Free PMC article. No abstract available.

3

WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.

Sneddon TP, Gilmore KL, Xiong M, Weck KE, Powell BC, Vora NL. Sneddon TP, et al. Among authors: gilmore kl. Am J Med Genet A. 2025 Jan;197(1):e63861. doi: 10.1002/ajmg.a.63861. Epub 2024 Sep 5. Am J Med Genet A. 2025. PMID: 39235309

4

Disparities in access to reproductive genetic services associated with geographic location of residence and maternal race and ethnicity.

Talati AN, Mallampati DP, Hardisty EE, Gilmore KL, Vora NL. Talati AN, et al. Among authors: gilmore kl. Genet Med. 2024 Nov;26(11):101221. doi: 10.1016/j.gim.2024.101221. Epub 2024 Jul 20. Genet Med. 2024. PMID: 39045791 Free PMC article.

5

The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.

Zhao E, Bomback M, Khan A, Krishna Murthy S, Solowiejczyk D, Vora NL, Gilmore KL, Giordano JL, Wapner RJ, Sanna-Cherchi S, Lyford A, Jelin AC, Gharavi AG, Hays T. Zhao E, et al. Among authors: gilmore kl. Prenat Diagn. 2024 Mar;44(3):343-351. doi: 10.1002/pd.6527. Epub 2024 Jan 29. Prenat Diagn. 2024. PMID: 38285371 Free PMC article.

6

Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.

Harris S, Putra M, Gilmore KL, Vora NL. Harris S, et al. Among authors: gilmore kl. Prenat Diagn. 2023 Oct;43(11):1463-1466. doi: 10.1002/pd.6439. Epub 2023 Sep 13. Prenat Diagn. 2023. PMID: 37705153 Free PMC article.

7

Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.

Drexler KA, Talati AN, Gilmore KL, Veazey RV, Powell BC, Weck KE, Davis EE, Vora NL. Drexler KA, et al. Among authors: gilmore kl. Genet Med. 2023 Oct;25(10):100915. doi: 10.1016/j.gim.2023.100915. Epub 2023 Jun 13. Genet Med. 2023. PMID: 37326029 Free PMC article.

8

Exploring and promoting the role of health visitors in postnatal contraception: a 'test and learn' project.

Gilroy V, Gilmore KL, Thwaites A. Gilroy V, et al. Among authors: gilmore kl. BMJ Sex Reprod Health. 2023 Jul;49(3):219-221. doi: 10.1136/bmjsrh-2022-201734. Epub 2023 Apr 18. BMJ Sex Reprod Health. 2023. PMID: 37072158 No abstract available.

9

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.

Harris SC, Chong K, Chitayat D, Gilmore KL, Jorge AAL, Freire BL, Lerario A, Shannon P, Cope H, Gallentine WB, Le Guyader G, Bilan F, Létard P, Davis EE, Vora NL. Harris SC, et al. Among authors: gilmore kl. Am J Med Genet A. 2023 May;191(5):1282-1292. doi: 10.1002/ajmg.a.63150. Epub 2023 Feb 24. Am J Med Genet A. 2023. PMID: 36826837 Free PMC article. Review.

10

Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?

Talati AN, Gilmore KL, Hardisty EE, Lyerly AD, Rini C, Vora NL. Talati AN, et al. Among authors: gilmore kl. Prenat Diagn. 2023 May;43(5):569-578. doi: 10.1002/pd.6318. Epub 2023 Feb 2. Prenat Diagn. 2023. PMID: 36690925 Free PMC article.

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