Publications by authors named "Merlene Peter"

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Long-Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy.
Andy Drackley, Merlene Peter, Heba H Akbari, Jelena Ivanisevic, Alexander Ing

Am J Med Genet A· December 2025

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Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia.
Andy Drackley, Merlene Peter, Pamela Rathbun, Alexander Ing, Carlos E Prada

Am J Med Genet A· August 2024

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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Merlene Peter, Peter Bauer

Brain· August 2023

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Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy.
Tamara T Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M van der Klift, Hassan Birjandi, Merlene Peter

Eur J Hum Genet· January 2023

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Therapeutic potential of targeting microRNA-10b in established intracranial glioblastoma: first steps toward the clinic.
Nadiya M Teplyuk, Erik J Uhlmann, Galina Gabriely, Natalia Volfovsky, Yang Wang, Merlene Peter

EMBO Mol Med· March 2016

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