Follow
Mark Theilmann
Mark Theilmann
Unknown affiliation
Verified email at post.harvard.edu
Title
Cited by
Cited by
Year
Scalable amplification of strand subsets from chip-synthesized oligonucleotide libraries
TL Schmidt, BJ Beliveau, YO Uca, M Theilmann, F Da Cruz, CT Wu, ...
Nature communications 6 (1), 8634, 2015
902015
Validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy number variant identification
GJ Hogan, VS Vysotskaia, KA Beauchamp, S Seisenberger, PV Grauman, ...
Clinical chemistry 64 (7), 1063-1073, 2018
692018
A BioBrick compatible strategy for genetic modification of plants
PM Boyle, DR Burrill, MC Inniss, CM Agapakis, A Deardon, JG DeWerd, ...
Journal of biological engineering 6, 1-8, 2012
332012
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment
VS Vysotskaia, GJ Hogan, GM Gould, X Wang, AD Robertson, KR Haas, ...
PeerJ 5, e3046, 2017
262017
High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening
NC Welker, AK Lee, RAS Kjolby, HY Wan, MR Theilmann, D Jeon, ...
Genetics in Medicine 23 (3), 443-450, 2021
252021
Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
GM Gould, PV Grauman, MR Theilmann, L Spurka, IE Wang, LM Melroy, ...
BMC Medical Genetics 19, 1-13, 2018
202018
Group testing approach for trinucleotide repeat expansion disorder screening
KE Kaseniit, MR Theilmann, A Robertson, EA Evans, IS Haque
Clinical Chemistry 62 (10), 1401-1408, 2016
42016
Selective nucleic acid amplification from nucleic acid pools
TL Schmidt, M Theilmann, WM Shih
US Patent 9,862,994, 2018
32018
Group testing approach for a genetic screening assay
KE Kaseniit, MR Theilmann, ADJ Robertson, EA Evans, IS Haque
US Patent App. 15/488,129, 2017
22017
An NGS-based carrier screen for congenital adrenal hyperplasia with 95% detection rate
D Muzzey, MR Theilmann, KM D'Auria, HH Lai, CS Chu, IS Haque, ...
JOURNAL OF MOLECULAR DIAGNOSTICS 17 (6), 760-760, 2015
22015
Nucleic acid sample enrichment and screening methods
C Chu, M Theilmann, N Welker, P Grauman
US Patent App. 17/926,566, 2023
2023
664 High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening
D Muzzey, N Welker, A Lee, R Kjolby, H Wan, M Theilmann, D Jeon, ...
American Journal of Obstetrics & Gynecology 224 (2), S417-S418, 2021
2021
High-Throughput Fetal-Fraction Amplification Increases Analytical Performance of Noninvasive Prenatal Screening
D Muzzey, N Welker, A Lee, R Kjolby, H Wan, M Theilmann, D Jeon, ...
JOURNAL OF MOLECULAR DIAGNOSTICS 22 (11), S8-S8, 2020
2020
Automated Population-Scale Screening for Fragile X Syndrome: Validation and Experience on> 60,000 Samples
IS Haque, AS Patterson, MR Theilmann, Z Chen
JOURNAL OF MOLECULAR DIAGNOSTICS 15 (6), 854-854, 2013
2013
The system can't perform the operation now. Try again later.
Articles 1–14