Lista de obras -

A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

artículo científico publicado en 2017

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

artículo científico publicado en 2015

A large deletion in the CFTR gene in CBAVD.

artículo científico publicado en 2006

Abnormal triple-test result plus normal ultrasonographic results equal amniocentesis?

artículo científico publicado en 1996

Academic and commercial genetic testing laboratories: complementary if not complimentary

scientific article published on 01 November 2007

Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes

artículo científico publicado en 1999

Allele dropout in polar bodies and blastomeres.

artículo científico publicado en 1998

Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling).

artículo científico publicado en 1996

Analyses of 95 first-trimester spontaneous abortions by chorionic villus sampling and karyotype

artículo científico publicado en 1992

Analysis of the first polar body: preconception genetic diagnosis

artículo científico publicado en 1990

Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion

artículo científico publicado en 2009

BRCA Share: A Collection of Clinical BRCA Gene Variants

artículo científico publicado en 2016

Birth of a healthy girl after preimplantation gender determination using a combination of polymerase chain reaction and fluorescent in situ hybridization analysis. Preimplantation Genetics Group.

artículo científico publicado en 1996

Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Preimplantation Genetics Group

artículo científico publicado en 1996

Birth of healthy children after preimplantation diagnosis of thalassemias.

artículo científico publicado en 1999

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype

artículo científico publicado en 2006

Changing trends in laboratory testing in the United States: a personal, historical perspective

artículo científico

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

artículo científico publicado en 2014

Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene

artículo científico publicado en 2007

Chromosomal abnormalities in the first and second polar body.

artículo científico publicado en 2001

Clinical array comparative genomic hybridization: a new paradigm

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Construction and sequence analysis of subtraction complementary DNA libraries from human preimplantation embryos

artículo científico publicado en 1999

Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by FISH.

artículo científico publicado en 1995

Crown-rump lengths in missed miscarriages and trisomy 21

artículo científico publicado en 2001

Current challenges in cystic fibrosis screening

scientific article published on 01 March 2004

Current status of preimplantation diagnosis

artículo científico publicado en 1997

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

artículo científico publicado en 2004

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

artículo científico publicado en 2002

Cystic fibrosis screening: lessons learned from the first 320,000 patients

scientific article published on 01 May 2004

Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis ⬇️

artículo científico publicado el 1 de febrero de 2011

Decreasing risk of pregnancy loss following chorionic villus sampling. Elimination of transabdominal chorionic villus sampling during the ninth week of pregnancy

artículo científico publicado el 1 de octubre de 1992

Designer babies - are they a reality yet? Case report: simultaneous preimplantation genetic diagnosis for Fanconi anaemia and HLA typing for cord blood transplantation

artículo científico publicado en 2000

Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results

artículo científico publicado en 2005

Detection of the factor V Leiden mutation by a modified photo-cross-linking oligonucleotide hybridization assay

artículo científico publicado en 2003

Detection of translocations involving the Y-chromosome in prospective prenatal screening of common chromosomal aneuploidies by FISH ⬇️

artículo científico publicado el 1 de abril de 1998

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory

artículo científico publicado en 2015

Development and validation of a highly sensitive and specific electrochemical assay to quantify anti-SARS-CoV-2 IgG antibodies to facilitate pandemic surveillance and monitoring of vaccine response

scientific article published on 16 November 2020

Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome

artículo científico publicado en 2007

Development of a web-based query tool for quality assurance of clinical molecular genetic test results

artículo científico publicado en 2007

Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting

artículo científico publicado en 2004

Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.

artículo científico publicado en 2014

Electric Field Induced Release and Measurement (EFIRM): Characterization and Technical Validation of a Novel Liquid Biopsy Platform in Plasma and Saliva

artículo científico publicado en 2020

Electric Field-Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment

artículo científico publicado en 2018

Expression of homebox-containing genes in human preimplantation development and in embryos with chromosomal aneuploidies

artículo científico publicado en 1996

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples

artículo científico publicado en 2005

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test

artículo científico publicado en 2003

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insuffici ⬇️

artículo científico publicado el 1 de enero de 2011

Frequency and Complexity of De Novo Structural Mutation in Autism

artículo científico publicado en 2016

Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T

scientific article published on 01 March 2004

From peapods to laboratory medicine: molecular diagnostics of inheritable diseases.

artículo científico publicado en 2003

Genetically characterized positive control cell lines derived from residual clinical blood samples

artículo científico publicado en 2005

High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer.

artículo científico publicado en 2004

Homeobox gene expression in human oocytes and preembryos

artículo científico publicado en 1995

Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays.

artículo científico publicado en 2014

Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis

artículo científico publicado en 2010

Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis

artículo científico publicado en 2017

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)

artículo científico publicado en 2017

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

artículo científico publicado en 2012

Invasive trophoblast antigen (hyperglycosylated human chorionic gonadotropin) in second-trimester maternal urine as a marker for down syndrome: preliminary results of an observational study on fresh samples

artículo científico publicado en 2004

Isolation of cDNA libraries from individual human preimplantation embryos ⬇️

artículo científico publicado el 1 de junio de 1998

Management of a triplet gestation complicated by uterus didelphys

scientific article published on 01 January 1997

Maternal chromosome Xp deletion identified by prenatal cell-free DNA screening

artículo científico publicado en 2017

Measurement of cetuximab and panitumumab-unbound serum EGFR extracellular domain using an assay based on slow off-rate modified aptamer (SOMAmer) reagents

artículo científico publicado en 2013

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.

artículo científico publicado en 2015

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory

scientific article published on 01 May 2004

Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory

artículo científico publicado en 2007

Multiple property tolerance analysis for the evaluation of missense mutations

artículo científico publicado en 2006

Mutation detection, interpretation, and applications in the clinical laboratory setting

artículo científico publicado en 2005

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

artículo científico publicado en 2010

Neonatal outcome of preimplantation genetic diagnosis by polar body removal: the first 109 infants.

artículo científico publicado en 2000

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening

artículo científico publicado en 2005

Obstetric outcomes in 102 pregnancies after preimplantation genetic diagnosis

artículo científico publicado en 2000

PGDIS Position Statement on the Transfer of Mosaic Embryos 2019

scientific article published on 01 August 2019

Polar body diagnosis of common aneuploidies by FISH.

artículo científico publicado en 1996

Polar body-based preimplantation diagnosis for X-linked disorders.

artículo científico publicado en 2002

Population-based carrier screening and prenatal diagnosis.

artículo científico publicado en 2004

Preconception and preimplantation diagnosis for cystic fibrosis

artículo científico publicado el 1 de febrero de 1992

Preconception genetic diagnosis of cystic fibrosis

artículo científico publicado en 1990

Preembryonic diagnosis for sickle cell disease.

artículo científico publicado en 2001

Preimplantation Diagnosis of Single Gene Disorders by Two-Step Oocyte Genetic Analysis Using First and Second Polar Body ⬇️

artículo científico publicado el 1 de diciembre de 1997

Preimplantation diagnosis for Fanconi anemia combined with HLA matching

artículo científico publicado en 2001

Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

artículo científico publicado en 2001

Preimplantation diagnosis for ornithine transcarbamylase deficiency.

artículo científico publicado en 2000

Preimplantation diagnosis for p53 tumour suppressor gene mutations

artículo científico publicado en 2001

Preimplantation diagnosis of autosomal dominant retinitis pigmentosum using two simultaneous single cell assays for a point mutation in the rhodopsin gene.

artículo científico publicado en 1998

Preimplantation diagnosis of common aneuploidies by the first- and second-polar body FISH analysis

artículo científico publicado en 1998

Preimplantation diagnosis of thalassemias

artículo científico publicado en 1998

Preimplantation testing for phenylketonuria.

artículo científico publicado en 2001

Prenatal diagnosis for primary congenital glaucoma (bupthalmous)

artículo científico publicado en 2006

Prenatal diagnosis of 46,XX male fetuses

artículo científico publicado en 1999

Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy

artículo científico publicado en 1997

Prenatal paternity testing with deoxyribonucleic acid techniques.

artículo científico publicado en 1996

Prepregnancy genetic testing for age-related aneuploidies by polar body analysis

artículo científico publicado en 1997

Prepregnancy testing for single-gene disorders by polar body analysis.

artículo científico publicado en 1999

Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations

artículo científico publicado en 2008

Prevention of age-related aneuploidies by polar body testing of oocytes.

artículo científico publicado en 1999

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

artículo científico publicado en 2010

Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population

artículo científico publicado en 2006

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

artículo científico publicado en 2014

Reliability of gender determination using the polymerase chain reaction (PCR) for single cells

artículo científico publicado en 1991

Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis

artículo científico publicado en 1994

Reliability of preimplantation diagnosis for single gene disorders

artículo científico publicado en 2001

Sequence analysis of libraries from individual human blastocysts ⬇️

artículo científico publicado el 1 de mayo de 1998

Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation

artículo científico publicado en 2005

Sex difference in crown-rump length in first-trimester twins

artículo científico publicado el 1 de noviembre de 1997

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster

artículo científico publicado en 2014

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory ⬇️

artículo científico publicado el 16 de enero de 2012

Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results

artículo científico publicado en 2014

Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel

artículo científico publicado en 2006

Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent

artículo científico publicado en 2005

Term birth after midtrimester hysterotomy and selective delivery of an acardiac twin

artículo científico publicado el 1 de julio de 1992

Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory ⬇️

artículo científico publicado el 7 de octubre de 2011

The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data ⬇️

artículo científico publicado el 1 de diciembre de 2011

The preimplantation genetic diagnosis of genetic diseases

artículo científico publicado en 1990

The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer ⬇️

artículo científico publicado el 24 de abril de 2012

Three births after preimplantation genetic diagnosis for cystic fibrosis with sequential first and second polar body analysis.

artículo científico publicado en 1998

Transabdominal embryoscopy for the detection of Carpenter syndrome during the first trimester

artículo científico publicado en 1994

Use of nested PCR to identify charred human remains and minute amounts of blood

artículo científico publicado el 1 de mayo de 1998

Lista de obras de

A Multigene Test Could Cost-Effectively Help Extend Life Expectancy for Women at Risk of Hereditary Breast Cancer.

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

A large deletion in the CFTR gene in CBAVD.

Abnormal triple-test result plus normal ultrasonographic results equal amniocentesis?

Academic and commercial genetic testing laboratories: complementary if not complimentary

Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes

Allele dropout in polar bodies and blastomeres.

Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling).

Analyses of 95 first-trimester spontaneous abortions by chorionic villus sampling and karyotype

Analysis of the first polar body: preconception genetic diagnosis

Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion

BRCA Share: A Collection of Clinical BRCA Gene Variants

Birth of a healthy girl after preimplantation gender determination using a combination of polymerase chain reaction and fluorescent in situ hybridization analysis. Preimplantation Genetics Group.

Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Preimplantation Genetics Group

Birth of healthy children after preimplantation diagnosis of thalassemias.

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype

Changing trends in laboratory testing in the United States: a personal, historical perspective

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene

Chromosomal abnormalities in the first and second polar body.

Clinical array comparative genomic hybridization: a new paradigm

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

Construction and sequence analysis of subtraction complementary DNA libraries from human preimplantation embryos

Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by FISH.

Crown-rump lengths in missed miscarriages and trisomy 21

Current challenges in cystic fibrosis screening

Current status of preimplantation diagnosis

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

Cystic fibrosis screening: lessons learned from the first 320,000 patients

Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis ⬇️

Decreasing risk of pregnancy loss following chorionic villus sampling. Elimination of transabdominal chorionic villus sampling during the ninth week of pregnancy

Designer babies - are they a reality yet? Case report: simultaneous preimplantation genetic diagnosis for Fanconi anaemia and HLA typing for cord blood transplantation

Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results

Detection of the factor V Leiden mutation by a modified photo-cross-linking oligonucleotide hybridization assay

Detection of translocations involving the Y-chromosome in prospective prenatal screening of common chromosomal aneuploidies by FISH ⬇️

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory

Development and validation of a highly sensitive and specific electrochemical assay to quantify anti-SARS-CoV-2 IgG antibodies to facilitate pandemic surveillance and monitoring of vaccine response

Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome

Development of a web-based query tool for quality assurance of clinical molecular genetic test results

Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting

Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.

Electric Field Induced Release and Measurement (EFIRM): Characterization and Technical Validation of a Novel Liquid Biopsy Platform in Plasma and Saliva

Electric Field-Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment

Expression of homebox-containing genes in human preimplantation development and in embryos with chromosomal aneuploidies

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test

FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insuffici ⬇️

Frequency and Complexity of De Novo Structural Mutation in Autism

Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T

From peapods to laboratory medicine: molecular diagnostics of inheritable diseases.

Genetically characterized positive control cell lines derived from residual clinical blood samples

High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer.

Homeobox gene expression in human oocytes and preembryos

Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays.

Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis

Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

Invasive trophoblast antigen (hyperglycosylated human chorionic gonadotropin) in second-trimester maternal urine as a marker for down syndrome: preliminary results of an observational study on fresh samples

Isolation of cDNA libraries from individual human preimplantation embryos ⬇️

Management of a triplet gestation complicated by uterus didelphys

Maternal chromosome Xp deletion identified by prenatal cell-free DNA screening

Measurement of cetuximab and panitumumab-unbound serum EGFR extracellular domain using an assay based on slow off-rate modified aptamer (SOMAmer) reagents

Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory

Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory

Multiple property tolerance analysis for the evaluation of missense mutations

Mutation detection, interpretation, and applications in the clinical laboratory setting

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Neonatal outcome of preimplantation genetic diagnosis by polar body removal: the first 109 infants.

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening

Obstetric outcomes in 102 pregnancies after preimplantation genetic diagnosis

PGDIS Position Statement on the Transfer of Mosaic Embryos 2019

Polar body diagnosis of common aneuploidies by FISH.

Polar body-based preimplantation diagnosis for X-linked disorders.

Population-based carrier screening and prenatal diagnosis.

Preconception and preimplantation diagnosis for cystic fibrosis

Preconception genetic diagnosis of cystic fibrosis