Kristen L Deak
Duke University
H-index: 13
North America-United States
Top articles of Kristen L Deak
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt
Human Genetics and Genomics Advances
2024/7/18
Kristen L Deak
H-Index: 8
Blast Phase of Myeloproliferative Neoplasm Resembles Acute Myeloid Leukemia, Myelodysplasia-Related, in Clinical Presentation, Cytogenetic Pattern, and Genomic Profile, and …
Archives of Pathology & Laboratory Medicine
2024/3/1
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: a survey of LGG Fellowship Program Directors
2024/2/1
P748: Duplication of 12q24. 11-q24. 31 in a patient with Noonan-like features
Genetics in Medicine Open
2024/1/1
P723: Identification of remarkable Y chromosome structural abnormalities and their link with various clinical presentations
Genetics in Medicine Open
2024/1/1
Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
American Journal of Medical Genetics Part A
2023/11
Sangmoon Lee
H-Index: 10
Kristen L Deak
H-Index: 8
Chronic Lymphocytic Leukemia With Two B-Cell Populations of Discordant Light Chain Restrictions in Individual Patients: Parallel Development of Biclonal B-Cell Neoplasms or …
American Journal of Clinical Pathology
2023/4/1
36. Clinical utility of copy number alteration analysis in the evaluation of Melanocytic Lesions for diagnosis and prognosis
Cancer Genetics
2022/11/1
Automated next-generation profiling of genomic alterations in human cancers
Nature communications
2022/5/20
A RETROSPECTIVE LONGITUDINAL STUDY AND COMPREHENSIVE REVIEW OF ADULT PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE III
2022/4/1
Next-generation sequencing concordance analysis of comprehensive solid tumor profiling between a centralized specialty laboratory and the decentralized personal genome …
The Journal of Molecular Diagnostics
2021/10/1
Kristen L Deak
H-Index: 8
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
Molecular genetics & genomic medicine
2021/7
Surajit Bhattacharya
H-Index: 6
Anna Alkelai
H-Index: 14
Eric Vilain
H-Index: 43
Laura Amendola
H-Index: 22
Guney Bademci
H-Index: 20
Dustin Baldridge
H-Index: 13
Michael Bamshad
H-Index: 61
Elizabeth Blue
H-Index: 16
William E Byrd
H-Index: 9
John Carey
H-Index: 6
Michael Cunningham
H-Index: 23
Daniel Doherty
H-Index: 15
Laura Duncan
H-Index: 15
Carlos Ferreira
H-Index: 24
Irman Forghani
H-Index: 7
Rizwan Hamid
H-Index: 28
Frances High
H-Index: 20
Jason Hom
H-Index: 17
Yong Huang
H-Index: 34
Jeffrey Jarvik
H-Index: 38
Suman Jayadev
H-Index: 17
Christina Lam
H-Index: 14
Acute myeloid leukemia arising from polycythemia vera underwent reversion to chronic phase of myeloproliferative neoplasm status post chemotherapy: Biclonal myeloid neoplasms …
Hematological oncology
2021/4
An unusual association: total anomalous pulmonary venous return and aortic arch obstruction in patients with cat eye syndrome
Journal of Pediatric Genetics
2021/3
Kristen L Deak
H-Index: 8
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
Genetics in Medicine
2020/7
Kristen L Deak
H-Index: 8
CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age
Human mutation
2020/3
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine
2020/7
Kristen L Deak
H-Index: 8
