A. Sun

发表

Expanded newborn screening for inborn errors of metabolism: overview and outcomes.

Christina Lam, Derek Wong, A. Sun, 2012, Advances in pediatrics.

Cystic Diseases of the Kidney

Raymond Y. Wang, D. Puliyanda, A. Sun, 2013 .

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

Karynne E. Patterson, Danny E. Miller, H. Mefford, 2020, bioRxiv.

Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder

D. Rimoin, E. Reinstein, A. Sun, 2013, American journal of medical genetics. Part A.

Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus

G. Ishak, N. Vitanza, D. Gupta, 2018, Pediatric blood & cancer.

Orphan drugs in development for long-chain fatty acid oxidation disorders: challenges and progress

J. Merritt, A. Sun, 2015 .

Bone health and SATB2‐associated syndrome

J. Fish, C. Brain, C. V. van Karnebeek, 2018, Clinical genetics.

Lysosomal storage disease overview.

A. Sun, 2018, Annals of translational medicine.

Novel truncating variant in DNA2-related congenital onset myopathy and ptosis suggests genotype–phenotype correlation

A. Sun, P. Phowthongkum, 2017, Neuromuscular Disorders.

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I

Christina Lam, I. Chang, M. Gelb, 2022, Molecular genetics and metabolism.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders.

Christina Lam, J. Merritt, I. Chang, 2020, JPEN. Journal of parenteral and enteral nutrition.

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

H. Mefford, J. N. Dines, Christina Lam, 2020, The Journal of pediatrics.

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry

D. Rimoin, W. Wilcox, Yuan Xue, 2014, Molecular genetics & genomic medicine.

Lysosomal Storage Disorders

Christina Lam, G. Berry, I. Chang, 2021, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Targeted long-read sequencing identifies missing disease-causing variation.

William H. Majoros, Karynne E. Patterson, Timothy E. Reddy, 2021, American journal of human genetics.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Genetics in Medicine.

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.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

E. Zackai, H. Hakonarson, W. Dobyns, 2020, American journal of medical genetics. Part A.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, npj Genomic Medicine.

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

William E. Byrd, Mercedes E. Alejandro, Mahshid S. Azamian, 2021, Genetics in Medicine.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, American journal of human genetics.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

William E. Byrd, Marni J. Falk, Laurel A. Cobban, 2023, The Journal of pediatrics.

Participation in a national diagnostic research study: assessing the patient experience

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, Orphanet Journal of Rare Diseases.

Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants

I. Glass, M. Goldberg, I. Chang, 2018, American journal of medical genetics. Part A.

Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome

A. Sun, Dararat Mingbunjerdsuk, M. Wong, 2020, Journal of child neurology.

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

William E. Byrd, Marni J. Falk, Mahshid S. Azamian, 2023, Orphanet Journal of Rare Diseases.

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)

R. Gibbs, D. Muzny, I. Glass, 2016, American journal of medical genetics. Part A.

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children

Christina Lam, A. Larson, J. V. Van Hove, 2018, Pediatric Nephrology.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Immune modulation in a patient with Morquio syndrome treated with enzyme replacement therapy.

S. Skoda-Smith, M. Goldberg, Walaa Alshuaibi, 2018, The journal of allergy and clinical immunology. In practice.