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Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

Pediatric neurology, 2016-01, Vol.54, p.29-34

2016

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Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-09, Vol.178 (3), p.281-290

2018

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Genes in Glucose Metabolism and Association With Spina Bifida

Reproductive sciences (Thousand Oaks, Calif.), 2008-01, Vol.15 (1), p.51-58

2008

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The genomic landscape of tuberous sclerosis complex

Nature communications, 2017-06, Vol.8 (1), p.15816-15816, Article 15816

2017

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Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida

American journal of obstetrics and gynecology, 2009-10, Vol.201 (4), p.394.e1-394.e11

2009

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Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants

Pediatrics (Evanston), 2017-12, Vol.140 (6)

2017

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ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans

Genome Biology, 2024-01, Vol.25 (1), p.19-19, Article 19

2024

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Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

PloS one, 2020-09, Vol.15 (9), p.e0239083

2020

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Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells?

Molecular medicine (Cambridge, Mass.), 2007-03, Vol.13 (3-4), p.160-165

2007

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Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States

Genetics in medicine, 2007-02, Vol.9 (2), p.88-100

2007

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Mutations in folate transporter genes and risk for human myelomeningocele

American journal of medical genetics. Part A, 2017-11, Vol.173 (11), p.2973-2984

2017

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Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

Clinical endocrinology (Oxford), 2011-03, Vol.74 (3), p.312-318

2011

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Genetic variations in the GLUT3 gene associated with myelomeningocele

American journal of obstetrics and gynecology, 2014-09, Vol.211 (3), p.305.e1-305.e8

2014

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Germ-Line Mosaicism in Tuberous Sclerosis: How Common?

American journal of human genetics, 1999-04, Vol.64 (4), p.986-992

1999

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Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

Human genetics, 2007-05, Vol.121 (3-4), p.389-400

2007

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Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele

American journal of obstetrics and gynecology, 2013-10, Vol.209 (4), p.388.e1-388.e7

2013

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Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1495-n/a

2020

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Introducing Incentives and Reducing Disincentives in Enhancing Deceased Organ Donation and Transplantation

Seminars in nephrology, 2022-07, Vol.42 (4), p.151268-151268, Article 151268

2022

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Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients

PloS one, 2012-12, Vol.7 (12), p.e51330-e51330

2012

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Association between training experience and readiness for advance care planning among healthcare professionals: a cross-sectional study

BMC medical education, 2020-11, Vol.20 (1), p.451-451, Article 451

2020

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Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16

Human mutation, 1997, Vol.9 (1), p.23-29

1997

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Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside

Journal of child neurology, 2004-09, Vol.19 (9), p.699-709

2004

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A Subviral Particle Binding Domain on the Rotavirus Nonstructural Glycoprotein NS28

Virology (New York, N.Y.), 1993-06, Vol.194 (2), p.665-673

1993

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Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants

Gene, 2023-08, Vol.877, p.147566-147566, Article 147566

2023

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Differences between myelomeningocele and myeloschisis lesions in patients undergoing open in-utero spina bifida repair

American journal of obstetrics and gynecology, 2023-01, Vol.228 (1), p.S383-S384

2023

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Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

Genes in Glucose Metabolism and Association With Spina Bifida

The genomic landscape of tuberous sclerosis complex

Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida

Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells?

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States

Mutations in folate transporter genes and risk for human myelomeningocele

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

Genetic variations in the GLUT3 gene associated with myelomeningocele

Germ-Line Mosaicism in Tuberous Sclerosis: How Common?

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks

Introducing Incentives and Reducing Disincentives in Enhancing Deceased Organ Donation and Transplantation

Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients

Association between training experience and readiness for advance care planning among healthcare professionals: a cross-sectional study

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16

Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside

A Subviral Particle Binding Domain on the Rotavirus Nonstructural Glycoprotein NS28

Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants

Differences between myelomeningocele and myeloschisis lesions in patients undergoing open in-utero spina bifida repair

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