Detecting mutations and ploidy in chromosomal segments

Onur Sakarya , Styrmir Sigurjonsson , Tudor Pompiliu Constantin , Matthew Rabinowitz

60
2015
Methods and compositions for determining ploidy

Styrmir Sigurjonsson , Raheleh Salari , Allison Ryan , Huseyin Eser Kirkizlar

70
2016
Compositions and methods for identifying nucleic acid molecules

Ryan Swenerton , Styrmir Sigurjonsson , Matthew Rabinowitz , Bernhard Zimmermann

63
2016
Systems and Methods for Detection of Aneuploidy

Milena Banjevic , Styrmir Sigurjonsson , Zachary Demko , Allison Ryan

6
2018
Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non‐invasive prenatal testing and implications for test accuracy

Nicola Flowers , Joanne Kelley , Styrmir Sigurjonsson , Damien L. Bruno
Prenatal Diagnosis 35 ( 10) 986 -989

14
2015
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.

Bernhard Zimmermann , Matthew Hill , George Gemelos , Zachary Demko
Prenatal Diagnosis 32 ( 13) 1233 -1241

444
2012
SNP‐based non‐invasive prenatal testing detects sex chromosome aneuploidies with high accuracy

Carole Samango-Sprouse , Milena Banjevic , Allison Ryan , Styrmir Sigurjonsson
Prenatal Diagnosis 33 ( 7) 643 -649

123
2013
Miscarriage After Noninvasive Prenatal Screening—The Value of Genetic Testing in Pregnancy Loss [34J]

Melissa Maisenbacher , Wendy DiNonno , Katrina Merrion , Michael Young
Obstetrics & Gynecology 131 ( 1)

2018
Tripolar mitosis drives the association between maternal genotypes of PLK4 and aneuploidy in human preimplantation embryos

Rajiv C. McCoy , Louise J. Newnham , Christian S. Ottolini , Eva R. Hoffmann
bioRxiv 182303

2017
Analysis of Plasma Cell-Free DNA by Ultradeep Sequencing in Patients With Stages I to III Colorectal Cancer.

Thomas Reinert , Tenna Vesterman Henriksen , Emil Christensen , Shruti Sharma
JAMA Oncology 5 ( 8) 1124 -1131

136
2019
Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples.

Melissa K. Maisenbacher , Katrina Merrion , Barbara Pettersen , Michael Young
Molecular Cytogenetics 10 ( 1) 6 -6

8
2017
Validation of an Enhanced Version of a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Detection of Fetal Aneuploidies.

Allison Ryan , Nathan Hunkapiller , Milena Banjevic , Naresh Vankayalapati
Fetal Diagnosis and Therapy 40 ( 3) 219 -223

35
2016
Optimizing Detection of Kidney Transplant Injury by Assessment of Donor-Derived Cell-Free DNA via Massively Multiplex PCR.

Tara Sigdel , Felipe Archila , Tudor Constantin , Sarah Prins
Journal of Clinical Medicine 8 ( 1) 19 -19

178
2018
Non-invasive Cell-free Tumor DNA-based Detection of Breast Cancer-related Copy Number Variations

Bernhard G. Zimmermann , Eser Kirkizlar , Matthew Hill , Tudor Constantin
Cancer Genetics and Cytogenetics 207 ( 6) 287 -288

2014
Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism–based noninvasive prenatal test

Kirsten J. Curnow , Louise Wilkins-Haug , Allison Ryan , Eser Kırkızlar
American Journal of Obstetrics and Gynecology 212 ( 1)

107
2015
Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing

Pe'er Dar , Kirsten J. Curnow , Susan J. Gross , Megan P. Hall
American Journal of Obstetrics and Gynecology 211 ( 5) 5 -7

184
2014
Common variants associated with mitotic-origin of aneuploidy in human embryos

Rajiv McCoy , Zachary Demko , Allison Ryan , Milena Banjevic
Reproductive Biomedicine Online 36

2018