Lista de obras -

36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting

artículo científico publicado en 2016

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

artículo científico publicado en 2017

A Multifaceted Mentoring Program for Junior Faculty in Academic Pediatrics

scientific article published on 07 April 2016

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes

artículo científico publicado en 2010

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies

artículo científico publicado en 2017

Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

artículo científico publicado en 2020

Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing

artículo científico publicado en 2010

Annemarie Sommer memorial

scientific article published on 18 July 2019

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities ⬇️

artículo científico publicado el 1 de noviembre de 2010

Attitudes of mothers of children with down syndrome towards noninvasive prenatal testing

artículo científico publicado en 2014

Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?

artículo científico publicado en 2005

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

artículo científico publicado en 2018

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

artículo científico publicado en 2009

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

artículo científico publicado en 2011

Challenges in the clinical application of whole-genome sequencing

scientific article published on 29 April 2010

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

artículo científico publicado en 2002

Clinical and mutational spectrum of Mowat-Wilson syndrome

artículo científico publicado en 2005

Clinical assessment incorporating a personal genome

artículo científico publicado en 2010

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical features and management issues in Mowat-Wilson syndrome

artículo científico publicado en 2006

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay

artículo científico publicado en 2009

Clinical whole-exome sequencing: are we there yet?

artículo científico publicado en 2014

Clues to an early diagnosis of Kallmann syndrome

scientific article published on 01 November 2010

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)

scientific article published on 22 August 2020

Consanguinity and the risk of congenital heart disease

article by Joseph T C Shieh et al published May 2012 in American Journal of Medical Genetics

Conservatively managed fetal goiter: an alternative to in utero therapy

artículo científico publicado en 2013

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2020

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

artículo científico publicado en 2020

Current Controversies in Prenatal Diagnosis 2: Cell free DNA prenatal screening should be used to identify all chromosome abnormalities

artículo científico publicado en 2018

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

artículo científico publicado en 2015

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

scientific article published on 02 July 2019

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

scientific article published on 28 June 2018

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay

artículo científico publicado en 2015

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening.

artículo científico publicado en 2015

Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics

artículo científico publicado en 2005

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

article

Developmental outcome in Kabuki syndrome

artículo científico publicado en 2005

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

artículo científico publicado en 2017

Ectopia lentis as the presenting and primary feature in Marfan syndrome

scientific article published on 19 September 2011

Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine.

artículo científico publicado en 2013

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

artículo científico publicado en 2014

Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome

artículo científico publicado en 2013

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism

artículo científico publicado en 2013

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

scientific journal article

FOXP1-related intellectual disability syndrome: a recognisable entity

artículo científico publicado en 2017

Familial cardiac valvulopathy due to filamin A mutation ⬇️

artículo científico publicado el 3 de agosto de 2011

Fibroblast Growth Factor Receptor 2 and Its Role in Caudal Appendage and Craniosynostosis ⬇️

artículo científico publicado el 1 de septiembre de 2010

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

artículo científico publicado en 2008

Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

artículo científico publicado en 2002

Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4

scientific article published on 01 July 2006

Genomics in the clinic: ethical and policy challenges in clinical next-generation sequencing programs at early adopter USA institutions

scientific article published on 01 June 2015

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

artículo científico publicado en 2017

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex ⬇️

artículo científico publicado el 9 de septiembre de 2011

Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects

artículo científico publicado en 2014

Intracranial Hemorrhage in Infants and Children With Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) ⬇️

artículo científico publicado el 1 de enero de 2002

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

artículo científico publicado en 2018

Knowledge, understanding, and uptake of noninvasive prenatal testing among Latina women

artículo científico publicado en 2015

Lateral meningocele syndrome: vertical transmission and expansion of the phenotype

scientific article published on 01 March 2005

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

artículo científico publicado en 2014

Medical and graduate students' attitudes toward personal genomics

artículo científico publicado en 2011

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay ⬇️

artículo científico publicado el 21 de diciembre de 2011

Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors

artículo científico publicado en 2011

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

artículo científico publicado en 2012

NIPT in a Clinical Setting: An analysis of Uptake in the First Months of Clinical Availability ⬇️

artículo científico publicado el 31 de mayo de 2013

Neonatal phenotype in Kabuki syndrome

artículo científico publicado en 2005

Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.

artículo científico publicado en 2015

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

artículo científico publicado en 2014

Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.

artículo científico publicado en 2017

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

artículo científico publicado en 2008

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia

artículo científico publicado en 2014

Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake ⬇️

artículo científico publicado el 26 de octubre de 2011

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

artículo científico publicado en 2015

Nuchal translucency measurement in fetuses with spinal muscular atrophy ⬇️

artículo científico publicado el 1 de febrero de 2011

Partial ATRX gene duplication causes ATR-X syndrome

artículo científico publicado en 2009

Patient preferences for prenatal testing of microdeletion and microduplication syndromes

artículo científico publicado en 2015

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

scientific article published on 17 June 2019

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome

artículo científico publicado en 2014

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

artículo científico publicado en 2017

Preaxial hallucal polydactyly as a marker for diabetic embryopathy

scientific article published on 01 January 2009

Prenatal diagnosis in the adolescent patient.

artículo científico publicado en 2002

Prenatal genetic screening and diagnosis for pediatricians ⬇️

artículo científico publicado el 1 de diciembre de 2010

Prenatal treatment of ornithine transcarbamylase deficiency

artículo científico publicado en 2018

Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period.

artículo científico publicado en 2016

Prenatally diagnosed omphalocele: characteristics associated with adverse neonatal outcomes

scientific article published on 21 June 2019

RASopathies: A significant cause of polyhydramnios?

artículo científico publicado en 2020

Recommendations for the integration of genomics into clinical practice

artículo científico

Report of two patients and further characterization of interstitial 9p13 deletion—A rare but recurrent microdeletion syndrome? ⬇️

artículo científico publicado el 7 de agosto de 2012

Respiratory system involvement in Costello syndrome

artículo científico publicado en 2016

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

artículo científico publicado en 2004

Terminal deletion of 6p results in a recognizable phenotype.

artículo científico publicado en 2005

The Decision to Continue a Pregnancy Affected by Down Syndrome: Timing of Decision and Satisfaction with Receiving a Prenatal Diagnosis ⬇️

artículo científico publicado el 21 de abril de 2013

The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders

artículo científico publicado en 2006

Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome

artículo científico publicado en 2006

Use of array-based technology in the practice of medical genetics

artículo científico publicado en 2007

Variables Influencing Pregnancy Termination Following Prenatal Diagnosis of Fetal Chromosome Abnormalities ⬇️

artículo científico publicado el 23 de septiembre de 2012

What is your diagnosis? Trichorhinophalangeal syndrome type I

artículo científico publicado el 1 de febrero de 2012

Whole-exome/genome sequencing and genomics

artículo científico publicado en 2013

Lista de obras de

36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

A Multifaceted Mentoring Program for Junior Faculty in Academic Pediatrics

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies

Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing

Annemarie Sommer memorial

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities ⬇️

Attitudes of mothers of children with down syndrome towards noninvasive prenatal testing

Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

Challenges in the clinical application of whole-genome sequencing

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

Clinical and mutational spectrum of Mowat-Wilson syndrome

Clinical assessment incorporating a personal genome

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Clinical features and management issues in Mowat-Wilson syndrome

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay

Clinical whole-exome sequencing: are we there yet?

Clues to an early diagnosis of Kallmann syndrome

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)

Consanguinity and the risk of congenital heart disease

Conservatively managed fetal goiter: an alternative to in utero therapy

Cornelia de Lange syndrome in diverse populations

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Current Controversies in Prenatal Diagnosis 2: Cell free DNA prenatal screening should be used to identify all chromosome abnormalities

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening.

Detection of sonographic markers of fetal aneuploidy depends on maternal and fetal characteristics

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Developmental outcome in Kabuki syndrome

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

Ectopia lentis as the presenting and primary feature in Marfan syndrome

Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine.

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

FOXP1-related intellectual disability syndrome: a recognisable entity

Familial cardiac valvulopathy due to filamin A mutation ⬇️

Fibroblast Growth Factor Receptor 2 and Its Role in Caudal Appendage and Craniosynostosis ⬇️

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4

Genomics in the clinic: ethical and policy challenges in clinical next-generation sequencing programs at early adopter USA institutions

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex ⬇️

Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects

Intracranial Hemorrhage in Infants and Children With Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) ⬇️

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Knowledge, understanding, and uptake of noninvasive prenatal testing among Latina women

Lateral meningocele syndrome: vertical transmission and expansion of the phenotype

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Medical and graduate students' attitudes toward personal genomics

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay ⬇️

Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

NIPT in a Clinical Setting: An analysis of Uptake in the First Months of Clinical Availability ⬇️

Neonatal phenotype in Kabuki syndrome

Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.

Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies

Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.

Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia

Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake ⬇️

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

Nuchal translucency measurement in fetuses with spinal muscular atrophy ⬇️

Partial ATRX gene duplication causes ATR-X syndrome

Patient preferences for prenatal testing of microdeletion and microduplication syndromes

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy