Katherine H. Kim

发表

Successful Management of Difficult Infusion-Associated Reactions in a Young Patient With Mucopolysaccharidosis Type VI Receiving Recombinant Human Arylsulfatase B (Galsulfase [Naglazyme])

B. Burton, C. Decker, Katherine H. Kim, 2008, Pediatrics.

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

J. Charrow, D. Altamura, Katherine H Kim, 2017, Journal of Medical Genetics.

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Richard T. Barfield, J. Rosenfeld, L. Shaffer, 2013, Proceedings of the National Academy of Sciences.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

B. Burton, Katherine H Kim, W. Dobyns, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

S. Robertson, M. Simpson, R. Trembath, 2011, Nature Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

R. Hochstenbach, Q. Waisfisz, R. Person, 2019, American journal of medical genetics. Part A.

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.

Katherine H Kim, V. Hucthagowder, B. Angle, 2006, American journal of human genetics.

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates

J. Vincent, Judy S. H. Liu, E. Morrow, 2019, Human Genetics.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2016, American journal of human genetics.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

CDKL5 and ARX mutations in males with early-onset epilepsy.

W. Chung, E. Wirrell, Soma Das, 2013, Pediatric neurology.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

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

Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

J. Charrow, Katherine H Kim, L. Pena, 2010, Neuromuscular Disorders.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

P. de Knijff, B. Mulder, H. Brown, 2021, The Journal of clinical investigation.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2017, American journal of human genetics.

Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig

H. Esfandiari, M. Mets, Sudhi P Kurup, 2019, Ophthalmic genetics.

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

P. Byers, D. Russell, B. Burton, 2011, Human molecular genetics.

Child Neurology: Reversible Dementia in an 18-Year-Old Woman Due to Undiagnosed Cobalamin-G Deficiency

F. Zelko, A. Bicknese, Anthony M Gacita, 2023, Neurology.

Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses.

B. Burton, R. Katz, Katherine H. Kim, 2009, Molecular genetics and metabolism.

Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II

B. Burton, Y. Messinger, Katherine H. Kim, 2014, Molecular genetics and metabolism reports.

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system.

C. Dodsworth, B. Burton, Katherine H Kim, 2013, Molecular genetics and metabolism.

CDKL5 and ARX mutations in males with early-onset epilepsy.

W. Chung, E. Wirrell, Soma Das, 2013, Pediatric neurology.

Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy

P. Kishnani, Ankit K. Desai, E. Vucko, 2023, Molecular genetics and metabolism reports.