Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities. Genet Med. 2025 Apr 29; 101450. View Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities. Abstract

Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders. Neurology. 2025 Apr 08; 104(7):e213429. View Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders. Abstract

A 4-Month-Old With Jaundice, Lethargy, and Emesis. Pediatrics. 2024 Oct 01; 154(4). View A 4-Month-Old With Jaundice, Lethargy, and Emesis. Abstract

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nat Commun. 2024 Aug 22; 15(1):7239. View Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Abstract

Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet. Am J Med Genet A. 2024 Dec; 194(12):e63825. View Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet. Abstract

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 07 11; 111(7):1352-1369. View PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Abstract

Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program. Mol Genet Metab. 2024 May; 142(1):108350. View Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program. Abstract

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. medRxiv. 2024 Jan 31. View Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Abstract

Reinstitution of pegvaliase therapy during lactation. Mol Genet Metab Rep. 2022 Dec; 33:100938. View Reinstitution of pegvaliase therapy during lactation. Abstract

Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. Pediatr Res. 2023 01; 93(1):110-117. View Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. Abstract

A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive. Hum Mutat. 2022 04; 43(4):471-476. View A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive. Abstract

Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center. Child Abuse Negl. 2022 03; 125:105480. View Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center. Abstract

Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. Pediatr Emerg Care. 2021 Dec 01; 37(12):e1154-e1159. View Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. Abstract

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Hum Genet. 2022 Jan; 141(1):65-80. View MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Abstract

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 07; 53(7):1006-1021. View Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Abstract

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 08 05; 108(8):1450-1465. View Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Abstract

Use of skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder: A novel therapeutic intervention. JIMD Rep. 2020 Sep; 55(1):44-50. View Use of skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder: A novel therapeutic intervention. Abstract

First 1.5 years of pegvaliase clinic: Experiences and outcomes. Mol Genet Metab Rep. 2020 Sep; 24:100603. View First 1.5 years of pegvaliase clinic: Experiences and outcomes. Abstract

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020 04; 182(4):780-784. View A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Abstract

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Mol Genet Metab Rep. 2020 Mar; 22:100555. View Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Abstract

Quality improvement: The tools we need to improve care for patients with inborn errors of metabolism. Mol Genet Metab. 2020 01; 129(1):1-2. View Quality improvement: The tools we need to improve care for patients with inborn errors of metabolism. Abstract

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. Mol Genet Metab Rep. 2019 Dec; 21:100530. View Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. Abstract

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4). View Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Abstract

Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. J Pediatr. 2018 11; 202:315-319.e2. View Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. Abstract

Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. J Pediatr. 2018 07; 198:313-316. View Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. Abstract

Cerebellar cognitive affective syndrome: insights from Joubert syndrome. Cerebellum Ataxias. 2018; 5:5. View Cerebellar cognitive affective syndrome: insights from Joubert syndrome. Abstract