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Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq

American journal of medical genetics. Part A, 2023-12, Vol.191 (12), p.2908-2912

2023

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Newborn Screening

The Pediatric clinics of North America, 2023-10, Vol.70 (5), p.1013-1027

Pappas, Kara B.

2023

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ARGININOSUCCINIC ACID IS EXQUISITELY SENSITIVE AND SPECIFIC COMPARED TO CITRULLINE IN SCREENING FOR ARGININOSUCCINIC ACID LYASE DEFICIENCY VIA NEWBORN SCREENING: MICHIGAN'S 10 YEARS OF EXPERIENCE

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107411, Article 107411

2023

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Child with Suspected Metabolic Disorder

Symptom-Based Approach to Pediatric Neurology, 2023, p.639-652

2023

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P330: Gabriele-de Vries syndrome: Exploring the phenotype of a recently described genetic disorder

Genetics in Medicine Open, 2023, Vol.1 (1), p.100358, Article 100358

2023

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ELEVATION OF HEPTADECANOYLCARNITINE DETECTED VIA NEWBORN SCREENING IS A STRONG PREDICTOR OF NEONATAL-ONSET DISEASE AMONG INBORN ERRORS OF METABOLISM AFFECTING PROPIONYLCARNITINE METABOLISM

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.267-267

2022

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Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1102-1108

2022

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Two unrelated cases of mild methylmalonic acidemia-mutase deficiency with shared variant treated with vitamin B12 only

Molecular genetics and metabolism, 2021-04, Vol.132, p.S15

2021

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eP022 - Two unrelated cases of mild methylmalonic acidemia-mutase deficiency with shared variant treated with vitamin B12 only

Molecular genetics and metabolism, 2021-04, Vol.132, p.S15-S15

2021

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Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children’s Hospital of Michigan

Molecular genetics and metabolism, 2021-04, Vol.132, p.S111-S112

2021

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eP169 - Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children’s Hospital of Michigan

Molecular genetics and metabolism, 2021-04, Vol.132, p.S111-S112

2021

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Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report

European journal of medical genetics, 2021-04, Vol.64 (4), p.104184-104184, Article 104184

2021

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Exploring the Learning Processes Needed by Nonprofit Fund Development Managers in Northern Colorado

Dietz Pappas, Kara

2021

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An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus-6 infection, and hemophagocytic syndrome: What are the links?

Pediatric blood & cancer, 2021, Vol.68 (1), p.e28564-e28564

2021

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An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus‐6 infection, and hemophagocytic syndrome: What are the links?

Pediatric blood & cancer, 2021-01, Vol.68 (1), p.e28564-n/a

2021

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A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines

American journal of medical genetics. Part A, 2020, Vol.182 (11), p.2704-2708

2020

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A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2704-2708

2020

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Genetic Etiologies of Neonatal Seizures

Neoreviews (Elk Grove Village, Ill.), 2020-10, Vol.21 (10), p.e663-e672

2020

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Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency

Neuropediatrics, 2020-04, Vol.51 (2), p.160-163

2020

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Chronic Kidney Disease and Left Ventricular Assist Device Patients: A Retrospective Review

Journal of cardiac failure, 2019-08, Vol.25 (8), p.S165-S165

2019

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The Current State of Newborn Screening in the United States

The Pediatric clinics of North America, 2019-04, Vol.66 (2), p.369-386

2019

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Zollinger-Ellison syndrome associated with a history of alcohol abuse: Coincidence or consequence?

Surgery, 2011-12, Vol.150 (6), p.1129-1135

2011

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Androgen Insensitivity and Gonadal Dysgenesis

Pediatric, Adolescent, & Young Adult Gynecology, 2009, p.36-52

2009

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Gender Role Across Development in Adults with 46,XY Disorders of Sex Development Including Perineoscrotal Hypospadias and Small Phallus Raised Male or Female

Journal of Pediatric Endocrinology and Metabolism, 2008-07, Vol.21 (7), p.625-630

2008

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X inactivation in triploidy and trisomy : the search for autosomal transfactors that choose the active X

European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.153-162

2008

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Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq

Newborn Screening

ARGININOSUCCINIC ACID IS EXQUISITELY SENSITIVE AND SPECIFIC COMPARED TO CITRULLINE IN SCREENING FOR ARGININOSUCCINIC ACID LYASE DEFICIENCY VIA NEWBORN SCREENING: MICHIGAN'S 10 YEARS OF EXPERIENCE

Child with Suspected Metabolic Disorder

P330: Gabriele-de Vries syndrome: Exploring the phenotype of a recently described genetic disorder

ELEVATION OF HEPTADECANOYLCARNITINE DETECTED VIA NEWBORN SCREENING IS A STRONG PREDICTOR OF NEONATAL-ONSET DISEASE AMONG INBORN ERRORS OF METABOLISM AFFECTING PROPIONYLCARNITINE METABOLISM

Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening

Two unrelated cases of mild methylmalonic acidemia-mutase deficiency with shared variant treated with vitamin B12 only

eP022 - Two unrelated cases of mild methylmalonic acidemia-mutase deficiency with shared variant treated with vitamin B12 only

Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children’s Hospital of Michigan

eP169 - Rapid exome and genome sequencing in critically ill pediatric patients: 3-year experience from the Children’s Hospital of Michigan

Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report

Exploring the Learning Processes Needed by Nonprofit Fund Development Managers in Northern Colorado

An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus-6 infection, and hemophagocytic syndrome: What are the links?

An infant with severe combined immunodeficiency, osteopetrosis, chromosomally integrated herpesvirus‐6 infection, and hemophagocytic syndrome: What are the links?

A cautionary tale of pyridoxine toxicity in cystathionine beta-synthase deficiency detected by two-tier newborn screening highlights the need for clear pyridoxine dosing guidelines

A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

Genetic Etiologies of Neonatal Seizures

Expanding Phenotypic Spectrum of Cerebral Aspartate-Glutamate Carrier Isoform 1 (AGC1) Deficiency

Chronic Kidney Disease and Left Ventricular Assist Device Patients: A Retrospective Review

The Current State of Newborn Screening in the United States

Zollinger-Ellison syndrome associated with a history of alcohol abuse: Coincidence or consequence?

Androgen Insensitivity and Gonadal Dysgenesis

Gender Role Across Development in Adults with 46,XY Disorders of Sex Development Including Perineoscrotal Hypospadias and Small Phallus Raised Male or Female

X inactivation in triploidy and trisomy : the search for autosomal transfactors that choose the active X

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