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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.271-281

2015

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Grip and Percussion Myotonia in Myotonic Dystrophy Type 1

The Journal of pediatrics, 2014-05, Vol.164 (5), p.1234-1234.e1

2014

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NRAS associated RASopathy and embryonal rhabdomyosarcoma

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.195-200

2020

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Novel Pathogenic C5 Gene Variants in a Patient with Neisseria Meningitis and Diffuse Cutaneous HSV-1 Infection

Journal of clinical immunology, 2024-02, Vol.44 (2), p.52-52, Article 52

2024

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Uncertainty: An Uncomfortable Companion to Decision-making for Infants

Pediatrics (Evanston), 2020-08, Vol.146 (Supplement_1), p.S13-S17

2020

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Weight a Minute! Eye Did Not Expect That

Pediatrics in review, 2023-10, Vol.44 (S1), p.S52-S54

2023

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Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.269-271

2022

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Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

Human genetics, 2022-08, Vol.141 (8), p.1355-1369

2022

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Choking and Cyanotic Episodes in a 3-month-old Male

Pediatrics in review, 2021-01, Vol.42 (Supplement_1), p.S103-S105

2021

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Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Human mutation, 2014-07, Vol.35 (7), p.779-790

2014

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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Human genetics, 2015-01, Vol.134 (1), p.97-109

2015

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Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

Gene, 2014-03, Vol.537 (2), p.279-284

2014

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Congenital lumbar hernia–A feature of diabetic embryopathy?

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2243-2249

2018

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Index of suspicion. Case 1: Global developmental delay and seizures in a 34-month-old boy. Case 2: Ecchymoses on legs and refusal to walk in a 16-year-old autistic boy. Case 3: Progressive breathing difficulty in a 5-year-old girl

Pediatrics in review, 2014-08, Vol.35 (8), p.350

2014

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Mupirocin resistance screening of methicillin-resistant Staphylococcus aureus isolates at Madigan Army Medical Center

Military medicine, 2008-06, Vol.173 (6), p.604-608

2008

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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Nature communications, 2024-08, Vol.15 (1), p.7239-22

2024

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Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation

American journal of medical genetics. Part A, 2022, Vol.188 (1), p.269-271

2022

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Applying Battlefield Triage Ethics and Resource Allocation to a Contemporary Public Health Crisis: Lessons Learned from the Past and Adapting Them for the Future

Resource Scarcity in Austere Environments, 2023, p.99-111

2023

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Characteristics and long‐term survival of patients diagnosed with pure tubular carcinoma of the breast

Journal of surgical oncology, 2018-05, Vol.117 (6), p.1137-1143

2018

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In response to: Long‐term overall survival of patients diagnosed with pure tubular carcinoma of the breast might be affected by increased co‐morbidities

Journal of surgical oncology, 2018-06, Vol.117 (7), p.1615-1615

2018

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An integrated statistical and deterministic hydrologic model for analyzing trace organic contaminants in commercial and high-density residential stormwater runoff

The Science of the total environment, 2019-07, Vol.673, p.656-667

2019

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Congenital CMV Screening in Infants with Failed Newborn Hearing Screens

Pediatrics (Evanston), 2021-03, Vol.147 (3_MeetingAbstract), p.1033-1034

2021

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Is there an Upgrading to Malignancy at Surgery of Mucocele-Like Lesions Diagnosed on Percutaneous Breast Biopsy?

The breast journal, 2016-03, Vol.22 (2), p.173-179

2016

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Biomechanics of axial load transmission across the native human elbow

Shoulder & elbow, 2021-10, Vol.13 (6), p.671-676

2021

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Identification of a Novel Genetic Variant Causing abca3 Surfactant Deficiency in a Newborn

Pediatrics (Evanston), 2018-01, Vol.141 (1_MeetingAbstract), p.748-748

2018

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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

Grip and Percussion Myotonia in Myotonic Dystrophy Type 1

NRAS associated RASopathy and embryonal rhabdomyosarcoma

Novel Pathogenic C5 Gene Variants in a Patient with Neisseria Meningitis and Diffuse Cutaneous HSV-1 Infection

Uncertainty: An Uncomfortable Companion to Decision-making for Infants

Weight a Minute! Eye Did Not Expect That

Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation

Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation

Choking and Cyanotic Episodes in a 3-month-old Male

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

Congenital lumbar hernia–A feature of diabetic embryopathy?

Index of suspicion. Case 1: Global developmental delay and seizures in a 34-month-old boy. Case 2: Ecchymoses on legs and refusal to walk in a 16-year-old autistic boy. Case 3: Progressive breathing difficulty in a 5-year-old girl

Mupirocin resistance screening of methicillin-resistant Staphylococcus aureus isolates at Madigan Army Medical Center

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation

Applying Battlefield Triage Ethics and Resource Allocation to a Contemporary Public Health Crisis: Lessons Learned from the Past and Adapting Them for the Future

Characteristics and long‐term survival of patients diagnosed with pure tubular carcinoma of the breast

In response to: Long‐term overall survival of patients diagnosed with pure tubular carcinoma of the breast might be affected by increased co‐morbidities

An integrated statistical and deterministic hydrologic model for analyzing trace organic contaminants in commercial and high-density residential stormwater runoff

Congenital CMV Screening in Infants with Failed Newborn Hearing Screens

Is there an Upgrading to Malignancy at Surgery of Mucocele-Like Lesions Diagnosed on Percutaneous Breast Biopsy?

Biomechanics of axial load transmission across the native human elbow

Identification of a Novel Genetic Variant Causing abca3 Surfactant Deficiency in a Newborn

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