R. Slaugh

发表

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.

R. Steiner, P. Rinaldo, A. Strauss, 1994, The Journal of clinical investigation.

Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome.

T. Spray, M. C. Johnson, M. Watson, 1995, The American journal of cardiology.

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

R. Stevenson, C. Schwartz, H. Lubs, 2000, Journal of medical genetics.

PTPN4 germline variants result in aberrant neurodevelopment and growth

R. Płoski, A. Wynshaw-Boris, L. Escobar, 2021, HGG advances.

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.

S. Garrett, M. Brueckner, A. Hing, 1999, American journal of medical genetics.

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

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

Linkage of preaxial polydactyly type 2 to 7q36.

C. Helms, A. Hing, H. Donis-Keller, 1995, American journal of medical genetics.

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs

W. Gahl, M. Huizing, D. Krasnewich, 2003, American journal of medical genetics. Part A.

Diagnosis of human heritable diseases--laboratory approaches and outcomes.

S. Dowton, R. Slaugh, 1995, Clinical chemistry.

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

G. B. Schaefer, J. Winkelmann, K. Clark, 2020, Genetics in Medicine.

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

A. Telegrafi, C. Phornphutkul, M. Osmond, 2024, American journal of human genetics.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Denise G. Lanza, Jason D. Heaney, J. Posey, 2024, American journal of human genetics.