Grzegorz Nalepa
Indiana University
Publications 62
#1Zora R. Rogers (UTSW: University of Texas Southwestern Medical Center)H-Index: 30
#2Taizo A. Nakano (University of Colorado Denver)H-Index: 4
Last.Akiko Shimamura (Boston Children's Hospital)H-Index: 38
view all 29 authors...
Quality of response to immunosuppressive therapy and long-term outcomes for pediatric severe aplastic anemia remain incompletely characterized. Contemporary evidence to inform treatment of relapsed or refractory severe aplastic anemia are also limited for pediatric patients. The clinical features and outcomes for 314 children treated from 2002-2014 with immunosuppressive therapy for acquired severe aplastic anemia were analyzed retrospectively from 25 institutions in the North American Pediatric...
1 CitationsSource
#1Jeffrey R Gehlhausen (IU: Indiana University)H-Index: 1
#2Eric T. Hawley (IU: Indiana University)H-Index: 1
Last.Su-Jung Park (IU: Indiana University)H-Index: 15
view all 24 authors...
1 CitationsSource
#1Adrianna Vlachos (Hofstra University)H-Index: 21
#2Evangelia Atsidaftos (The Feinstein Institute for Medical Research)H-Index: 2
Last.Jeffrey M. Lipton (The Feinstein Institute for Medical Research)H-Index: 35
view all 17 authors...
#1Anna L. Brown (Institute of Medical and Veterinary Science)H-Index: 14
#2Mark Armstrong (UniSA: University of South Australia)
Last.Hamish S. Scott (UniSA: University of South Australia)H-Index: 64
view all 60 authors...
Background: It has been known for approximately 19 years that germline mutations in RUNX1, lead to familial platelet disorder with predisposition to myeloid malignancy (FPD-MM, OMIM 601399). Since that time researchers have identified a broad range of different RUNX1 mutations, in over 100 families. In large families, the diagnosis of malignancy shows variable penetrance among family members with the same mutation; some carriers of RUNX1 mutations do not develop malignancy. The causes of this he...
#1Grzegorz Nalepa (IU: Indiana University)H-Index: 20
A 23 year old man with short stature, congenital malformation of the left thumb and both ears, and a single kidney presented with back pain, shortness of breath, fatigue, and easy bruising that had developed over several months. Physical examination revealed hepatosplenomegaly. His brother had died in early childhood, more than 20 years ago. The patient’s parents reported that his brother, “had similar but worse congenital malformations, including bad kidney problems.” Full blood count showed pa...
#1Monica Khurana (IU: Indiana University)
#2Donna Edwards (IU: Indiana University)H-Index: 1
Last.Grzegorz NalepaH-Index: 20
view all 7 authors...
Fanconi anaemia (FA) is a genetic disorder associated with bone marrow failure, congenital abnormalities and an increased risk of developing cancer. In this Review, Nalepa and Clapp describe the roles of FA proteins in maintaining genome homeostasis and explain how dysregulation of the FA pathway through mutations in the FA genes might lead to carcinogenesis.
46 CitationsSource
#1Richa Sharma (IU: Indiana University)H-Index: 2
#2Elizabeth Sierra Potchanant (IU: Indiana University)H-Index: 2
Last.Grzegorz Nalepa (IU: Indiana University)H-Index: 20
view all 4 authors...
Diagnosis of bone marrow failure (BMF) disorders is challenging but essential for optimal patient management. Here, we report a young adult from nonconsanguineous parents with progressive pancytopenia since childhood, bone pain, increased bone density, and haphazard ossification replacing hematopoiesis within the bone marrow. Sequencing revealed two novel biallelic variants of unknown significance within the thromboxane A synthase gene, TBXAS1 (c.266T > C; c.989T > C), bioinformatically predicte...
1 CitationsSource
#1Elizabeth A. Sierra Potchanant (IUPUI: Indiana University – Purdue University Indianapolis)
#2Donna Cerabona (IUPUI: Indiana University – Purdue University Indianapolis)H-Index: 1
Last.Grzegorz NalepaH-Index: 20
view all 9 authors...