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Restoration of Replication Fork Stability in BRCA1- and BRCA2-Deficient Cells by Inactivation of SNF2-Family Fork Remodelers

Molecular cell, 2017-10, Vol.68 (2), p.414-430.e8

2017

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Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes

American journal of obstetrics and gynecology, 2015-03, Vol.212 (3), p.332.e1-332.e9

2015

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Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

The Lancet (British edition), 2019-02, Vol.393 (10173), p.758-767

2019

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Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays

Fertility and sterility, 2010-11, Vol.94 (6), p.2017-2021

2010

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In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial

Fertility and sterility, 2013-07, Vol.100 (1), p.100-107.e1

2013

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Prenatal diagnosis by chromosomal microarray analysis

Fertility and sterility, 2018-02, Vol.109 (2), p.201-212

2018

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Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

The Journal of clinical investigation, 2017-01, Vol.127 (1), p.293-305

2017

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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

The New England journal of medicine, 2012-12, Vol.367 (23), p.2175-2184

2012

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

Prenatal diagnosis, 2012-12, Vol.32 (13), p.1233-1241

2012

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Trends in Tissue Engineering for Blood Vessels

BioMed research international, 2012-01, Vol.2012 (2012), p.1-14

2012

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Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa

Science translational medicine, 2014-11, Vol.6 (264), p.264ra164

2014

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Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder

Fertility and sterility, 2012-11, Vol.98 (5), p.1236-1240

2012

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P702: Mosaic monosomy/partial trisomy 13 resulting from an unstable ring chromosome in a child with multiple congenital anomalies and developmental delay

Genetics in Medicine Open, 2024, Vol.2, p.101606, Article 101606

2024

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Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples

PloS one, 2018-02, Vol.13 (2), p.e0193476-e0193476

2018

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Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions

Nature, 2005-04, Vol.434 (7035), p.907-913

2005

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Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic

Journal of translational medicine, 2023-06, Vol.21 (1), p.378-378, Article 378

2023

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Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis

PLoS genetics, 2012-11, Vol.8 (11), p.e1003002-e1003002

2012

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A rapid and simple bead-bashing-based method for genomic DNA extraction from mammalian tissue

BioTechniques, 2020-05, Vol.68 (5), p.240-244

2020

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Single nucleotide polymorphism microarray–based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos

Fertility and sterility, 2011-04, Vol.95 (5), p.1606-1612.e2

2011

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Glut1 deficiency syndrome and erythrocyte glucose uptake assay

Annals of neurology, 2011-12, Vol.70 (6), p.996-1005

2011

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Traditional Prenatal Diagnosis: Past to Present

Methods in molecular biology (Clifton, N.J.), 2019, Vol.1885, p.3

2019

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Formation and Resuscitation of Viable but Nonculturable Salmonella typhi

BioMed research international, 2013-01, Vol.2013 (2013), p.1-7

2013

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Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

Methods in molecular biology (Clifton, N.J.), 2019, Vol.1885, p.23

2019

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Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications

Clinics in laboratory medicine, 2016-06, Vol.36 (2), p.261-276

2016

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Restoration of Replication Fork Stability in BRCA1- and BRCA2-Deficient Cells by Inactivation of SNF2-Family Fork Remodelers

Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays

In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial

Prenatal diagnosis by chromosomal microarray analysis

Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

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

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Trends in Tissue Engineering for Blood Vessels

Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa

Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder

P702: Mosaic monosomy/partial trisomy 13 resulting from an unstable ring chromosome in a child with multiple congenital anomalies and developmental delay

Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples

Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions

Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic

Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis

A rapid and simple bead-bashing-based method for genomic DNA extraction from mammalian tissue

Single nucleotide polymorphism microarray–based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos

Glut1 deficiency syndrome and erythrocyte glucose uptake assay

Traditional Prenatal Diagnosis: Past to Present

Formation and Resuscitation of Viable but Nonculturable Salmonella typhi

Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications

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