Milena Babic

发表

The Genomic Landscape of Sporadic Prolactinomas

Paul P. S. Wang, H. Scott, A. Schreiber, 2019, Endocrine Pathology.

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia

Anna L. Brown, H. Scott, A. Schreiber, 2019, Haematologica.

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome

Paul P. S. Wang, H. Scott, A. Schreiber, 2020, American journal of medical genetics. Part A.

Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia

Anna L. Brown, Ian D. Lewis, Sarah Moore, 2011, Nature Genetics.

A four-gene LincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patients

W. Hiddemann, S. Bohlander, A. Schwarzer, 2018, Leukemia.

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Anna L. Brown, T. Walsh, M. King, 2016, Blood.

Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and Proteomics

D. Adelson, Bing Zhang, Chaochun Wei, 2015, Scientific Reports.

Revealing missing isoforms encoded in the human genome by integrating genomic, transcriptomic and proteomic data

D. Adelson, Bing Zhang, Chaochun Wei, 2014, bioRxiv.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

J. Rosenfeld, T. Walsh, S. Holland, 2012, Blood.

Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer

Anna L. Brown, Paul P. S. Wang, Soma Das, 2021, Leukemia.

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

Anna L. Brown, H. Rienhoff, H. Scott, 2020, BMC Medical Genetics.

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Anna L. Brown, Paul P. S. Wang, S. Fröhling, 2020, Blood advances.

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis

G. Ravenscroft, N. Laing, K. Kassahn, 2023, Neuromuscular Disorders.

Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain.

D. Adelson, H. Scott, J. Mann, 2016, Genomics.

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

P. Arts, P. Venugopal, M. Jongmans, 2024, Blood advances.

Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes

Anna L. Brown, J. Matthews, H. Scott, 2017, Leukemia.

The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution

Anna L. Brown, Paul P. S. Wang, J. Maciejewski, 2019, Leukemia.

A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone

I. Lewis, L. To, H. Scott, 2015, Leukemia.

Clonal Diversity of Recurrently Mutated Genes in Myelodysplastic Syndromes

H. Scott, A. Schreiber, M. Babic, 2014 .

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

S. Fröhling, M. Cazzola, J. Klco, 2023, Blood advances.