Wendy E Smith

H. Blaszyk, J. Wax, A. Cartin, 2010, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Genetic counseling issues in urea cycle disorders.

Brendan H. Lee, Rani H. Singh, M. Summar, 2005, Critical care clinics.

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

G. Cooper, P. Fergelot, K. Devriendt, 2020, European Journal of Human Genetics.

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

Deborah L. Levy, Gregory M. Cooper, Brian L. Browning, 2010, Nature Genetics.

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

E. Thorland, N. Lindor, D. Dawson, 2003, American journal of human genetics.

Medical genetics education in the midst of the COVID‐19 pandemic: Shared resources

Wendy E Smith, D. Regier, H. M. Byers, 2020, American journal of medical genetics. Part A.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

J. Rosenfeld, H. Mefford, E. Eichler, 2011, Journal of Medical Genetics.

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

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Sibling phenotype concordance in classical infantile Pompe disease

Yuan-Tsong Chen, Jennifer S. Li, P. Kishnani, 2007, American journal of medical genetics. Part A.

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2010, American journal of human genetics.

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

J. Rosenfeld, B. Torchia, L. Shaffer, 2011, European Journal of Human Genetics.

Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25

J. Rosenfeld, E. Zackai, J. Graham, 2011, American journal of medical genetics. Part A.

Improving genetic health care: A Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability

J. Moeschler, Rosemarie Smith, Wendy E Smith, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Laboratory monitoring of patients with hereditary tyrosinemia type I.

Brian C. Netzel, M. Schultz, P. Rinaldo, 2020, Molecular genetics and metabolism.

Urea cycle disorders: clinical presentation outside the newborn period.

Brendan H. Lee, Rani H. Singh, M. Summar, 2005, Critical care clinics.

Second‐Trimester Sonographic Diagnosis of Diastrophic Dysplasia

J. Wax, A. Cartin, M. Carpenter, 2003, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome

N. Hauser, S. Srivastava, J. Niederhuber, 2019, Neuropediatrics.

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders.

R. Holt, J. Vockley, N. Longo, 2018, Molecular genetics and metabolism.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Expanding the neurodevelopmental phenotype of PURA syndrome

M. Reijnders, D. Baralle, L. Bennetto, 2018, American journal of medical genetics. Part A.

Metabolic evaluation of the sick neonate.

Wendy E Smith, C. Garganta, 2005, Seminars in perinatology.

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

M. Marino, S. Cederbaum, J. Vockley, 2014, Genetics in Medicine.

Glutamine and hyperammonemic crises in patients with urea cycle disorders.

M. Marino, N. Longo, Brendan H. Lee, 2016, Molecular genetics and metabolism.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period

Brendan H. Lee, Rani H. Singh, M. Summar, 2005 .

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.

J L Merritt, B F Scharschmidt, S. Cederbaum, 2012, Molecular genetics and metabolism.

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

S. Cederbaum, N. Longo, Brendan H. Lee, 2013, Hepatology.

Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.

R. Holt, J. Vockley, N. Longo, 2019, Molecular genetics and metabolism.

Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate

Brendan H. Lee, G. Diaz, B. Scharschmidt, 2015, Molecular genetics and metabolism reports.

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.

M. Marino, S. Cederbaum, J. Vockley, 2015, Molecular genetics and metabolism.

Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes.

Brendan H. Lee, G. Diaz, B. Scharschmidt, 2014, Molecular genetics and metabolism.

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

S. Cederbaum, J. Vockley, N. Longo, 2014, Genetics in Medicine.