Sandra Yang

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Rena A. Godfrey, Colleen E. Wahl, K. F. Fajardo, 2011, Genetics in Medicine.

Clinical utility of exome sequencing in infantile heart failure

I. Krantz, L. Medne, A. Santani, 2019, Genetics in Medicine.

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.

C. Tifft, C. Ferreira, D. Regier, 2019, Bone.

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.

B. Banwell, C. Tifft, J. Clarke, 2009, Molecular genetics and metabolism.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

S. Scherer, N. Brown, R. Yuen, 2019, Brain : a journal of neurology.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Jill A. Madden, J. Stoler, T. Yu, 2019, Genetics in Medicine.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

E. Eichler, J. Vincent, D. Nickerson, 2019, Genetics in Medicine.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Soma Das, G. Vezina, M. Summar, 2015, Journal of Human Genetics.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Nancy F. Hansen, J. Mullikin, N. Hansen, 2012, Neurology.

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

A. Vanderver, Taeun Chang, G. Vezina, 2014, Molecular genetics and metabolism reports.

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Golder N Wilson, E. Roeder, D. Horn, 2020, Brain : a journal of neurology.

Clinical utility of exome sequencing in infantile heart failure

I. Krantz, L. Medne, A. Santani, 2019, Genetics in Medicine.

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis

C. Tifft, E. Baker, G. Golas, 2016, American journal of medical genetics. Part A.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Rena A. Godfrey, Colleen E. Wahl, K. F. Fajardo, 2011, Genetics in Medicine.