Publications by authors named "Jil D Stegmann"

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is implicated in central nervous system, orofacial and maxillofacial anomalies.
Jeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, Ramgopal Dhakar, Tikam Chand Dakal

J Med Genet· January 2025

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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo

NPJ Genom Med· March 2024

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Is Involved in Congenital Chylothorax.
Jonathan B Whitchurch, Sophia Schneider, Alina C Hilger, Ricarda Köllges, Jil D Stegmann

Cells· January 2024

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Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Corina E Thiem, Jil D Stegmann, Alina C Hilger, Lea Waffenschmidt, Charlotte Bendixen

Birth Defects Res· June 2022

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Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
Sophia Schneider, Ricarda Köllges, Jil D Stegmann, Frederic Thieme, Alina C Hilger

Am J Med Genet A· May 2022

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