D. Barbouth

发表

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome

C. Wahlestedt, V. Peschansky, C. Pastori, 2013, Human Genetics.

Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis

D. Barbouth, P. Rusconi, A. Garg, 2018, Journal of Pediatric Genetics.

Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

J. Rosenfeld, C. Stevens, C. Curry, 2012, American journal of medical genetics. Part A.

Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes

O. Bodamer, D. Barbouth, N. Weinreb, 2014, Orphanet Journal of Rare Diseases.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

Matthew H. Brush, Mercedes E. Alejandro, Gabriel F. Batzli, 2019, Clinical imaging.

Screening, evaluation, and management of a child with developmental delay.

J. Brosco, D. Barbouth, D. Barbouth, 2002, Pediatric case reviews.

Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience

J. Hoffman, D. Barbouth, A. Schneider, 2014, Journal of Community Genetics.

Expanded newborn screening: an update for pediatricians.

R. Villalba, D. Barbouth, Ana Morales, 2009, Pediatric annals.

Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome

L. Potocki, K. Walz, D. Barbouth, 2019, American journal of medical genetics. Part A.

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

M. Tekin, S. Sacharow, O. Bodamer, 2013, Molecular Cytogenetics.

Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH

P. Warburton, S. Yu, D. Barbouth, 2007, Cytogenetic and Genome Research.

Patient management problem-preferred responses.

D. Barbouth, N. Weinreb, 2011, Continuum.

Early-Onset Marfan Syndrome: A Case Series

D. Barbouth, Sethuraman Swaminathan, Mohanageetha Ardhanari, 2018, Journal of Pediatric Genetics.

Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy.

D. Barbouth, N. Weinreb, Robert E. Lee, 2018, Blood cells, molecules & diseases.

C. Wahlestedt, V. Peschansky, C. Pastori, 2013, Human Genetics.

Macrocephaly‐Capillary Malformation: A Report of Three Cases and Review of the Literature

D. Barbouth, E. Connelly, M. Gonzalez, 2009, Pediatric dermatology.

COVID‐19 in a child with severe propionic acidemia

M. Tekin, D. Barbouth, S. Hacker, 2021, Pediatrics international : official journal of the Japan Pediatric Society.

Gaucher disease and SARS-CoV-2 infection: Emerging management challenges

S. Packman, E. Ginns, G. Lopez, 2020, Molecular Genetics and Metabolism.

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

C. Phornphutkul, C. Goizet, D. Barbouth, 2015, Orphanet Journal of Rare Diseases.

Screening Newborns for Galactosemia Using Total Body Galactose Oxidation to CO2 in Expired Air

L. Elsas, D. Barbouth, Darcy L. Velazquez, 2007, Pediatric Research.

Prevention of a molecular misdiagnosis in galactosemia

L. Elsas, D. Barbouth, K. Lai, 2006, Genetics in Medicine.

Fragile X Syndrome: A Review of Associated Medical Problems

E. Berry-Kravis, S. Kidd, D. Barbouth, 2014, Pediatrics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization

P. Mundy, P. Jayakar, L. Elsas, 2007, Human mutation.

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

M. Tekin, S. Sacharow, O. Bodamer, 2013, Molecular Cytogenetics.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

M. Gambello, Henry C. Lin, Julia Wang, 2018, Human mutation.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

A founder noncoding GALT variant interfering with splicing causes galactosemia

M. Tekin, Shengru Guo, G. Bademci, 2020, Journal of inherited metabolic disease.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017, American journal of human genetics.

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

Shengru Guo, G. Bademci, H. Moore, 2022, Molecular genetics & genomic medicine.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Matthew H. Brush, David R. Murdock, Jean M. Davidson, 2019, Biological psychiatry.

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment

P. Jayakar, D. Barbouth, Carla D. Cuthbert, 2009, Genetics in Medicine.

Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience

J. Hoffman, D. Barbouth, A. Schneider, 2014, Journal of Community Genetics.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission

F. Tassone, E. Berry-Kravis, B. Durbin-Johnson, 2014, Journal of Neurodevelopmental Disorders.

700: Jewish genetic diseases: larger screening panel increases the aggregate carrier rate in the Ashkenazi Jewish population

P. Fernhoff, J. Hoffman, D. Barbouth, 2012 .

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Stephan J Sanders, Carol J. Saunders, C. Freitag, 2018, American journal of human genetics.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

One is the loneliest number: genotypic matchmaking using the electronic health record

Leigh Anne Tang, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Erratum: De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder (American Journal of Human Genetics (2017) 100(2) (352–363) (S0002929717300034) (10.1016/j.ajhg.2017.01.003))

Stephan J Sanders, R. Redon, J. Rosenfeld, 2017 .

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Fragile X Syndrome : A Review of Associated Medical Problems abstract Fragile

E. Berry-Kravis, S. Kidd, D. Barbouth, 2014 .

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia

D. Barbouth, Sethuraman Swaminathan, S. R. Gorla, 2017, Journal of Pediatric Genetics.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation

B. Byrne, I. Tuna, J. Lammers, 2023, Molecular therapy. Methods & clinical development.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.