Katherine H Kim

发表

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.

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.

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.

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

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

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.

Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

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

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.

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.

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.

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

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

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.

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.