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Risk of hepatic neoplasms in Wolf–Hirschhorn syndrome (4p‐): Four new cases and review of the literature

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2389-2394

2018

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Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene

Epilepsy & behavior reports, 2024, Vol.25, p.100652, Article 100652

2024

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Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2613-2617

2014

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Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance

International journal of neonatal screening, 2024-03, Vol.10 (1), p.21

2024

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Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

American journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.925-935

2018

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P041: False positive VLCAD deficiency screening: Proposed effect of testosterone

Genetics in Medicine Open, 2024, Vol.2, p.100918, Article 100918

2024

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Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result

Journal of community genetics, 2019-10, Vol.10 (4), p.447-451

2019

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MUC1 ligand, NM23-H1, is a novel growth factor that maintains human stem cells in a more naïve state

PloS one, 2013-03, Vol.8 (3), p.e58601-e58601

2013

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Academia, advocacy, and industry: A collaborative method for clinical research advancement

American journal of medical genetics. Part A, 2014-07, Vol.164A (7), p.1619-1621

2014

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P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes

Genetics in Medicine Open, 2024, Vol.2, p.101042, Article 101042

2024

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The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

PLoS genetics, 2016-05, Vol.12 (5), p.e1006039-e1006039

2016

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Tetramethylsuccinimide as a Directing/Protecting Group in Purine Glycosylations

Organic letters, 2010-01, Vol.12 (1), p.120-122

2010

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Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings

JBJS case connector, 2020-10, Vol.10 (4), p.e20.00140-e20.00140

2020

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A Gold Nanoparticle Platform for Protein–Protein Interactions and Drug Discovery

ACS applied materials & interfaces, 2011-08, Vol.3 (8), p.2979-2987

2011

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Stability of DNA Containing a Structural Water Mimic in an A-T Rich Sequence

Journal of the American Chemical Society, 2011-02, Vol.133 (6), p.1766-1768

2011

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Preparation of the 2′-Deoxynucleosides of 2,6-Diaminopurine and Isoguanine by Direct Glycosylation

Journal of organic chemistry, 2010-03, Vol.75 (5), p.1360-1365

2010

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Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia: Report of 2 cases

Journal of neurosurgery. Pediatrics, 2012-06, Vol.9 (6), p.654-659

2012

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Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia

Journal of neurosurgery. Pediatrics, 2012-06, Vol.9 (6), p.654

2012

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eP007: Delayed onset hyperammonemic encephalopathy in an adult with GLUD1 deficiency

Genetics in medicine, 2022-03, Vol.24 (3), p.S4-S4

2022

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eP262: De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report

Genetics in medicine, 2022-03, Vol.24 (3), p.S166-S166

2022

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eP094: Diagnostic yield of chromosomal microarray in congenital heart disease: A single center retrospective study

Genetics in medicine, 2022-03, Vol.24 (3), p.S61-S62

2022

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A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature

American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.368-373

2024

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Biochemical abnormalities in Pearson syndrome

American journal of medical genetics. Part A, 2015-03, Vol.167A (3), p.621-628

2015

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How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1750-1753

2020

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Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

Journal of medical genetics, 2016-04, Vol.53 (4), p.256-263

2016

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Risk of hepatic neoplasms in Wolf–Hirschhorn syndrome (4p‐): Four new cases and review of the literature

Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene

Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature

Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

P041: False positive VLCAD deficiency screening: Proposed effect of testosterone

Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result

MUC1 ligand, NM23-H1, is a novel growth factor that maintains human stem cells in a more naïve state

Academia, advocacy, and industry: A collaborative method for clinical research advancement

P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

Tetramethylsuccinimide as a Directing/Protecting Group in Purine Glycosylations

Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings

A Gold Nanoparticle Platform for Protein–Protein Interactions and Drug Discovery

Stability of DNA Containing a Structural Water Mimic in an A-T Rich Sequence

Preparation of the 2′-Deoxynucleosides of 2,6-Diaminopurine and Isoguanine by Direct Glycosylation

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia: Report of 2 cases

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia

eP007: Delayed onset hyperammonemic encephalopathy in an adult with GLUD1 deficiency

eP262: De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report

eP094: Diagnostic yield of chromosomal microarray in congenital heart disease: A single center retrospective study

A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature

Biochemical abnormalities in Pearson syndrome

How a baby with classic galactosemia was nearly missed: When the test succeeds but system fails

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

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