Publications by authors named "L Edelmann"

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Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.
Lisa M Karger, Bryn D Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta

Am J Med Genet A· May 2025

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The Azide-Wittig Reaction.
Kushik, A Petrov, D Ranieri, L Edelmann, T Beweries

Angew Chem Int Ed Engl· December 2024

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An algorithm to identify patients aged 0-3 with rare genetic disorders.
Bryn D Webb, Lisa Y Lau, Despina Tsevdos, Ryan A Shewcraft, David Corrigan, Lisa Edelmann

Orphanet J Rare Dis· May 2024

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Clinical Pharmacogenomic MT-RNR1 Screening for Aminoglycoside-Induced Ototoxicity and the Post-Test Counseling Conundrum.
Robert Rigobello, Jay Shaw, Daniel Ilg, Rebekah Zimmerman, Lisa Edelmann

Clin Pharmacol Ther· August 2023

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Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Katherine E Bonini, Amanda Thomas-Wilson, Priya N Marathe, Monisha Sebastin, Jacqueline A Odgis, Lisa Edelmann

Clin Genet· August 2023

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