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Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 6, p. 1330, doi. 10.1002/jgc4.1607
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- Publication type:
- Article
Discordance between fetal RhD typing using molecular methods and neonatal typing with serology.
- Published in:
- 1999
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- Publication type:
- journal article
The current and future impact of genome-wide sequencing on fetal precision medicine.
- Published in:
- Human Genetics, 2020, v. 139, n. 9, p. 1121, doi. 10.1007/s00439-019-02088-4
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- Publication type:
- Article
Mendelian gene identification through mouse embryo viability screening.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01118-7
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- Publication type:
- Article
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2633, doi. 10.1002/ajmg.a.36672
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- Publication type:
- Article
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.
- Published in:
- Nature Genetics, 2007, v. 39, n. 7, p. 836, doi. 10.1038/ng2057
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- Publication type:
- Article
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 185, doi. 10.1038/13810
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- Publication type:
- Article
Erratum: Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming.
- Published in:
- Scientific Reports, 2017, p. 46434, doi. 10.1038/srep46434
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- Publication type:
- Article
Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming.
- Published in:
- Scientific Reports, 2017, p. 44667, doi. 10.1038/srep44667
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- Publication type:
- Article
A Metagenomic Approach to Characterization of the Vaginal Microbiome Signature in Pregnancy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0036466
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- Publication type:
- Article
Deletion of Porcn in Mice Leads to Multiple Developmental Defects and Models Human Focal Dermal Hypoplasia (Goltz Syndrome).
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- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032331
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- Publication type:
- Article
Are First Trimester Nuchal Septations Independent Risk Factors for Chromosomal Anomalies?
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- Journal of Ultrasound in Medicine, 2017, v. 36, n. 1, p. 155, doi. 10.7863/ultra.16.01066
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- Publication type:
- Article
Non-random X chromosome inactivation in Aicardi syndrome.
- Published in:
- Human Genetics, 2009, v. 125, n. 2, p. 211, doi. 10.1007/s00439-008-0615-4
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- Publication type:
- Article
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.
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- PLoS ONE, 2021, v. 16, n. 4, p. 1, doi. 10.1371/journal.pone.0249695
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- Publication type:
- Article
Maternal stress in Shank3<sup>ex4-9</sup> mice increases pup-directed care and alters brain white matter in male offspring.
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- PLoS ONE, 2019, v. 14, n. 11, p. 1, doi. 10.1371/journal.pone.0224876
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- Publication type:
- Article
Recurrent Biparental Hydatidiform Mole: Additional Evidence for a 1.1-Mb Locus in 19q13.4 and Candidate Gene Analysis.
- Published in:
- Reproductive Sciences, 2005, v. 12, n. 5, p. 376, doi. 10.1016/j.jsgi.2005.02.011
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- Publication type:
- Article
The Human Homologue (PEG3) of the Mouse Paternally Expressed Gene 3 (Peg3) Is Maternally Imprinted But Not Mutated in Women With Familial Recurrent Hydatidiform Molar Pregnancies.
- Published in:
- Reproductive Sciences, 2001, v. 8, n. 5, p. 305, doi. 10.1177/107155760100800509
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- Publication type:
- Article
Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios.
- Published in:
- 2023
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- Publication type:
- Case Study
Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 2, p. 117, doi. 10.1002/mgg3.250
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- Publication type:
- Article
NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 3, p. 706, doi. 10.1093/hmg/ddt457
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- Publication type:
- Article
Chronic Maternal Low-Protein Diet in Mice Affects Anxiety, Night-Time Energy Expenditure and Sleep Patterns, but Not Circadian Rhythm in Male Offspring.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170127
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- Publication type:
- Article
Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.
- Published in:
- Mammalian Genome, 2001, v. 12, n. 10, p. 796, doi. 10.1007/s00335-001-1006-5
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- Publication type:
- Article
Phenotype and Management of Aicardi Syndrome: New Findings From a Survey of 69 Children.
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- Journal of Child Neurology, 2007, v. 22, n. 2, p. 176, doi. 10.1177/0883073807300298
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- Publication type:
- Article
Newborn Screening and Prenatal Diagnosis for Rett Syndrome: Implications for Therapy.
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- Journal of Child Neurology, 2005, v. 20, n. 9, p. 779, doi. 10.1177/08830738050200091401
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- Publication type:
- Article
Rh blood types and applications to prenatal testing.
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- Contemporary OB/GYN, 2001, v. 46, n. 8, p. 57
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- Publication type:
- Article
International Society for Prenatal Diagnosis 2022 debate 3—Fetal genome sequencing should be offered to all pregnant patients.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 4, p. 428, doi. 10.1002/pd.6247
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- Publication type:
- Article
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
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- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1686, doi. 10.1002/pd.6269
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- Publication type:
- Article
Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis.
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- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1479, doi. 10.1002/pd.6252
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- Publication type:
- Article
Lower fetal fraction in clinical cell-free DNA screening results is associated with increased risk of hypertensive disorders of pregnancy.
- Published in:
- 2022
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- Publication type:
- journal article
Circulating trophoblast numbers as a potential marker for pregnancy complications.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 9, p. 1182, doi. 10.1002/pd.6202
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- Publication type:
- Article
Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.
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- Prenatal Diagnosis, 2022, v. 42, n. 7, p. 947, doi. 10.1002/pd.6153
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- Publication type:
- Article
Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 7, p. 811, doi. 10.1002/pd.6144
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- Publication type:
- Article
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis.
- Published in:
- 2022
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- Publication type:
- journal article
Prenatal exomes and genomes - so much new and so much more to learn.
- Published in:
- 2022
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- Publication type:
- Editorial
Overview and recent developments in cell‐based noninvasive prenatal testing.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 10, p. 1202, doi. 10.1002/pd.5957
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- Publication type:
- Article
Improving the prenatal diagnosis of Beckwith-Wiedemann syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
- Published in:
- 2020
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- Publication type:
- Editorial
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, p. 1508, doi. 10.1002/pd.5670
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- Publication type:
- Article
The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell‐based noninvasive prenatal testing.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 11, p. 1383, doi. 10.1002/pd.5755
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- Publication type:
- Article
Prenatal testing in pregnancies conceived by in vitro fertilization with pre-implantation genetic testing.
- Published in:
- 2020
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- Publication type:
- journal article
Obituary: Laird Jackson.
- Published in:
- 2020
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- Publication type:
- Editorial
Prenatally diagnosed developmental abnormalities of the central nervous system and genetic syndromes: A practical review.
- Published in:
- 2019
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- Publication type:
- journal article
The uptake of pan-ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling.
- Published in:
- 2019
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- Publication type:
- journal article
Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.
- Published in:
- 2018
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- Publication type:
- journal article
Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions.
- Published in:
- 2018
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- Publication type:
- journal article
Missed opportunities: unidentified genetic risk factors in prenatal care.
- Published in:
- 2018
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- Publication type:
- journal article
Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells.
- Published in:
- 2016
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- Publication type:
- journal article
Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.
- Published in:
- 2016
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- Publication type:
- journal article
Pregnant patients' risk perception of prenatal test results with uncertain fetal clinical significance: ultrasound versus advanced genetic testing.
- Published in:
- 2015
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- Publication type:
- journal article
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.
- Published in:
- 2015
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- Publication type:
- journal article