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Postnatal genetic testing on cord blood for prenatally identified high‐probability cases

Prenatal diagnosis, 2023-08, Vol.43 (9), p.1120-1131

2023

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The ribosomal basis of diamond-blackfan anemia: mutation and database update

Human mutation, 2010-12, Vol.31 (12), p.1269-1279

2010

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Use of preimplantation genetic testing for monogenic disorders and subsequent prenatal care and diagnostic testing

Prenatal diagnosis, 2022-07, Vol.42 (8), p.1022-1030

2022

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Reproductive decision‐making and the utilization of preimplantation genetic testing among individuals with inherited aortic or vascular disease

Journal of genetic counseling, 2024-06, Vol.33 (3), p.592-604

2024

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Single gene non‐invasive prenatal screening for autosomal dominant conditions in a high‐risk cohort

Prenatal diagnosis, 2023-08, Vol.43 (9), p.1110-1119

2023

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Monozygotic Twins With Trisomy 21 and Partial Agenesis of the Corpus Callosum

Pediatric neurology, 2013-04, Vol.48 (4), p.314-316

2013

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Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)

Prenatal diagnosis, 2016-05, Vol.36 (5), p.456-462

2016

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When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell‐free DNA aneuploidy screens

Prenatal diagnosis, 2018-03, Vol.38 (4), p.250-257

2018

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91: Has cell free fetal DNA decreased the absolute number of chromosome abnormalities diagnosed prenatally?

American journal of obstetrics and gynecology, 2017-01, Vol.216 (1), p.S64-S65

2017

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Human fetal sacrococcygeal extension or 'tail' in the second trimester: prenatal diagnosis, associated findings, and clinical outcome

Prenatal diagnosis, 2013-02, Vol.33 (2), p.134-140

2013

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Familial case of prenatally diagnosed intralobar and extralobar sequestrations with cystadenomatoid change

Journal of pediatric surgery, 2011-02, Vol.46 (2), p.e27-e31

2011

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EVALUATING CURRENT CARRIER SCREENING PROTOCOLS FOR PATIENTS AND FAMILIES UTILIZING DONOR GAMETES

Fertility and sterility, 2022-10, Vol.118 (4), p.e245-e245

2022

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Blastocyst conversion rate and ploidy in translocation carriers

Fertility and sterility, 2019-09, Vol.112 (3), p.e228-e229

2019

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Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA): Patient choices and outcome after positive cell-free DNA screening

Prenatal diagnosis, 2016-05, Vol.36 (5), p.456-462

2016

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Novel genetic regulators of fibrinogen synthesis identified by an in vitro experimental platform

Journal of thrombosis and haemostasis, 2023-03, Vol.21 (3), p.522-533

2023

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Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels

Arteriosclerosis, thrombosis, and vascular biology, 2023-07, Vol.43 (7), p.e254

2023

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Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing

Genetics in medicine, 2021-07, Vol.23 (7), p.1341-1348

2021

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The 2μm Plasmid Causes Cell Death in Saccharomyces cerevisiae with a Mutation in Ulp1 Protease

Molecular and Cellular Biology, 2005-05, Vol.25 (10), p.4299-4310

2005

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Predictors of deterioration in health-related quality of life in Parkinson's disease: Results from the DATATOP trial

Movement disorders, 2008-04, Vol.23 (5), p.653-659

2008

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Pharmacokinetics and tolerance of zidovudine in preterm infants

The Journal of pediatrics, 2003-01, Vol.142 (1), p.47-52

2003

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The 2 microm plasmid causes cell death in Saccharomyces cerevisiae with a mutation in Ulp1 protease

Molecular and cellular biology, 2005-05, Vol.25 (10), p.4299

2005

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Interobserver reliability of the prism and alternate cover test in children with esotropia

Archives of ophthalmology (1960), 2009-01, Vol.127 (1), p.59

Pediatric Eye Disease Investigator Group

2009

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Postnatal genetic testing on cord blood for prenatally identified high‐probability cases

The ribosomal basis of diamond-blackfan anemia: mutation and database update

Use of preimplantation genetic testing for monogenic disorders and subsequent prenatal care and diagnostic testing

Reproductive decision‐making and the utilization of preimplantation genetic testing among individuals with inherited aortic or vascular disease

Single gene non‐invasive prenatal screening for autosomal dominant conditions in a high‐risk cohort

Monozygotic Twins With Trisomy 21 and Partial Agenesis of the Corpus Callosum

Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)

When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell‐free DNA aneuploidy screens

91: Has cell free fetal DNA decreased the absolute number of chromosome abnormalities diagnosed prenatally?

Human fetal sacrococcygeal extension or 'tail' in the second trimester: prenatal diagnosis, associated findings, and clinical outcome

Familial case of prenatally diagnosed intralobar and extralobar sequestrations with cystadenomatoid change

EVALUATING CURRENT CARRIER SCREENING PROTOCOLS FOR PATIENTS AND FAMILIES UTILIZING DONOR GAMETES

Blastocyst conversion rate and ploidy in translocation carriers

Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA): Patient choices and outcome after positive cell-free DNA screening

Novel genetic regulators of fibrinogen synthesis identified by an in vitro experimental platform

Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels

Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing

The 2μm Plasmid Causes Cell Death in Saccharomyces cerevisiae with a Mutation in Ulp1 Protease

Predictors of deterioration in health-related quality of life in Parkinson's disease: Results from the DATATOP trial

Pharmacokinetics and tolerance of zidovudine in preterm infants

The 2 microm plasmid causes cell death in Saccharomyces cerevisiae with a mutation in Ulp1 protease

Interobserver reliability of the prism and alternate cover test in children with esotropia

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