Publications by authors named "Neeta Vora"

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Novel Missense Variant in the FGFR1 Gene Associated With Prenatal Diagnosis of Hartsfield Syndrome.
Mia B Hodges, Kelly L Gilmore, Madeline J Dyke, Neeta L Vora

Prenat Diagn· December 2025

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The Perspectives and Experiences of Prospective Parents Declining Diagnostic Prenatal Genome Sequencing in Continuing Pregnancies With Fetal Structural Anomalies.
Lisa S Weingarten, Allison Rosenbaum, Jessica de Voest, Stephanie Galloway, Jessica L Giordano, Neeta L Vora

Prenat Diagn· December 2025

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Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections.
Natalie B Gulrajani, John Boscardin, Billie R Lianoglou, Katie Tick, Carmen M A Santoli, Neeta L Vora

Prenat Diagn· December 2025

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Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing.
Sarah Harris, Neeta L Vora

Prenat Diagn· October 2025

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Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.
Hammad Yousaf, Maayke A de Koning, Kamal Khan, Kelly L Gilmore, Mariëtte J V Hoffer, Neeta L Vora

Am J Hum Genet· October 2025

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Unequal Uptake: Insurance-Related Disparities in Prenatal Genetic Counseling and Screening at a Quaternary Medical Center.
Divya Mallampati, Marcella Boynton, Asha Nikesh Talati, Emily E Hardisty, Neeta L Vora

Prenat Diagn· June 2025

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Prenatal Detection of TGFBR1 Variant Associated With Severe Ventriculomegaly and Loeys-Dietz Syndrome.
Mia B Hodges, Sally Harris, Brianna Murphy, Kelly L Gilmore, Neeta L Vora

Prenat Diagn· June 2025

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Amniocentesis in pregnancies at or beyond 24 weeks: an international multicenter study.
Roni Zemet, Mohamad Ali Maktabi, Alexandra Tinfow, Jessica L Giordano, Thomas M Heisler, Neeta L Vora

Am J Obstet Gynecol· April 2025

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Rho(D) immune globulin shortage and fetal Rh(D) screening with cell-free DNA.
Matthew R Grace, Brighton Goodhue, Neeta L Vora

Curr Opin Obstet Gynecol· April 2025

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Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.
Cordelia R Muir, Kelly L Gilmore, Smriti Singh, Neeta L Vora

Prenat Diagn· February 2025

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WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.
Tam P Sneddon, Kelly L Gilmore, Mai Xiong, Karen E Weck, Bradford C Powell, Neeta L Vora

Am J Med Genet A· January 2025

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Pregnancy in People With Cystic Fibrosis Treated With Highly Effective Modulator Therapy.
Jennifer L Goralski, Asha N Talati, Emily E Hardisty, Neeta L Vora

Obstet Gynecol· January 2025

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Cell-free DNA Screening and Maternal Cancer.
Neeta L Vora

N Engl J Med· December 2024

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Disparities in access to reproductive genetic services associated with geographic location of residence and maternal race and ethnicity.
Asha N Talati, Divya P Mallampati, Emily E Hardisty, Kelly L Gilmore, Neeta L Vora

Genet Med· November 2024

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SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability.
Arkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, Mervyn G Thomas, Tahir N Khan, Neeta L Vora

Ann Neurol· November 2024

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Response to Wynn and Hokovec Regarding "The Use of cfDNA to Screen for Monogenic Conditions in Low Risk Populations Is Ready for Clinical Use".
Neeta L Vora, Sylvie Langlois, Lyn S Chitty

Prenat Diagn· November 2024

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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.
Rachel A Veazey, Allan J Fisher, Asha N Talati, Emily Hardisty, Kelly L Gilmore, Neeta L Vora

Prenat Diagn· November 2024

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Addressing Barriers to Autopsy and Genetic Testing in Stillbirth Workup.
Karen J Gibbins, Neeta L Vora, Akila Subramaniam, Jessica M Page, Naomi O Riches

O G Open· September 2024

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Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.
Neeta L Vora, Sylvie Langlois, Lyn S Chitty

Prenat Diagn· April 2024

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Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Gillian V Blayney, Eoghan Laffan, Preethi A Jacob, Caitlin D Baptiste, Heinz Gabriel, Neeta Vora

Prenat Diagn· April 2024

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Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Lindsay R Freud, Stephanie Galloway, T Blaine Crowley, Julie Moldenhauer, Ann Swillen, Neeta L Vora

Am J Obstet Gynecol· March 2024

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The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.
Emily Zhao, Miles Bomback, Atlas Khan, Sarath Krishna Murthy, David Solowiejczyk, Neeta L Vora

Prenat Diagn· March 2024

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Cell-Free DNA Screening for Single-Gene Disorders.
Brighton S Goodhue, Sky E Danity, Neeta Vora, Jeffrey A Kuller, Matthew R Grace

Obstet Gynecol Surv· March 2024

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Corrigendum to 'Prenatal Exome and Genome Sequencing for Fetal Structural Abnormalities': [American Journal of Obstetrics and Gynecology 228 (2023) 140-149].
Neeta L Vora, Mary E Norton

Am J Obstet Gynecol· December 2023

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Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
Sarah Harris, Manesha Putra, Kelly L Gilmore, Neeta L Vora

Prenat Diagn· October 2023

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