Sarah Macklin-Mantia
8PUBLICATIONS
68CO-AUTHORS
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Publications (8)
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|Mar 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara
|Dec 08, 2022
Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results.Sarah K Macklin-Mantia, Kristin E Clift, Santo Maimone
|Aug 19, 2020
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.Sarah K Macklin-Mantia, Stephanie L Hines, Kaisorn L Chaichana
|Aug 15, 2020
Retrospective review of outcomes in patients with DNA-damage repair related pancreatic cancer.Sarah K Macklin-Mantia, Stephanie L Hines, Pashtoon M Kasi
|Jul 26, 2018
Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes.Sarah Macklin, Ahmed Mohammed, Jessica Jackson
|May 04, 2018
Physician interpretation of variants of uncertain significance.Sarah K Macklin, Jessica L Jackson, Paldeep S Atwal
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Frequent Collaborators
1 joint publications
Thomas Caulfield
1 joint publications
Sarah E Sheppard
1 joint publications
Laura Bryant
1 joint publications
Rochelle N Wickramasekara
1 joint publications
Jodi Hallgren
1 joint publications
Victor Faundes
1 joint publications
Pearl Lee
1 joint publications
M Celeste Simon
1 joint publications
Xavier de la Cruz
1 joint publications
Natália Padilla
