Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 2237G>A; Arg746Gln

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Outcomes of allogeneic hematopoietic cell transplantation in adults with fusions associated with Ph-like ALL.

Blood Advances

Aldoss, Ibrahim I; Yang, Dongyun D; Tomasian, Vanina V; Mokhtari, Sally S; Jackson, Ryan R; Gu, Zhaohui Z; Telatar, Milhan M; Yew, Hooi H; Al Malki, Monzr M MM; Salhotra, Amandeep A; Khaled, Samer S; Ali, Haris H; Aribi, Ahmed A; Sandhu, Karamjeet S KS; Mei, Matthew M; Arslan, Shukaib S; Koller, Paul P; Artz, Andrew A; Aoun, Patricia P; Gu, Dongqing D; Snyder, David D; Stewart, Forrest M FM; Curtin, Peter P; Stein, Anthony S AS; Pillai, Raju R; Marcucci, Guido G; Forman, Stephen J SJ; Pullarkat, Vinod V; Nakamura, Ryotaro R; Afkhami, Michelle M

Publication Date: 2022-09-13

Variant appearance in text: KMT2D: 2237G>A; R746Q

PubMed Link: 35816633

Variant Present in the following documents:

• advancesADV2022007597-suppl1.xlsx, sheet 1

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DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.

Genome Research

Giacopelli, Brian B; Wang, Min M; Cleary, Ada A; Wu, Yue-Zhong YZ; Schultz, Anna Reister AR; Schmutz, Maximilian M; Blachly, James S JS; Eisfeld, Ann-Kathrin AK; Mundy-Bosse, Bethany B; Vosberg, Sebastian S; Greif, Philipp A PA; Claus, Rainer R; Bullinger, Lars L; Garzon, Ramiro R; Coombes, Kevin R KR; Bloomfield, Clara D CD; Druker, Brian J BJ; Tyner, Jeffrey W JW; Byrd, John C JC; Oakes, Christopher C CC

Publication Date: 2021-05

Variant appearance in text: KMT2D: Arg746Gln

PubMed Link: 33707228

Variant Present in the following documents:

• supp_gr.269233.120_Supplemental_Tables_S1_S2_S8-11.xlsx, sheet 5

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