Mari Mori
9PUBLICATIONS
36CO-AUTHORS
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Publications (9)
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|Mar 07, 2026
Universal Presence of Gene/Variant Nomenclature Errors in Journal Manuscript Submissions.Lisa A Lansdon, Binu Porath, Mari Mori
|Aug 07, 2025
Novel Intragenic Duplication of GATAD2B in a Patient With GAND.Mari Mori, Steven Estes, Swetha Ramadesikan
|Nov 08, 2024
Promises and challenges of genomic newborn screening (NBS) - lessons from public health NBS programs.Mari Mori, Bimal P Chaudhari, Margie A Ream
|May 25, 2023
Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure.Camille A Dash, Jill A Madden, Christy Cummings
|Oct 22, 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie
|Dec 03, 2021
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.Marilena Melas, Esko A Kautto, Samuel J Franklin
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Frequent Collaborators
2 joint publications
Bimal P Chaudhari
1 joint publications
Jose Bernardo Quintos
1 joint publications
Joanna Bajerska
1 joint publications
Karolina Łagowska
1 joint publications
Julita Reguła
1 joint publications
Aleksandra Skoczek-Rubińska
1 joint publications
Elaine R Mardis
1 joint publications
Marilena Melas
1 joint publications
Esko A Kautto
1 joint publications
Samuel J Franklin
