Kory Keller

发表

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

J. Rosenfeld, S. Schwartz, L. Shaffer, 2013, European Journal of Human Genetics.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

Yaping Yang, F. Xia, C. Eng, 2018, American journal of medical genetics. Part A.

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.

Yan Huang, Thomas Lücke, Joanna Lubieniecka, 2012, Human molecular genetics.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

J. Rosenfeld, H. Mefford, E. Eichler, 2011, Journal of Medical Genetics.

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

J. Rosenfeld, B. Torchia, U. Surti, 2009, Genetics in Medicine.

Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader‐Willi‐like phenotype

R. Zori, B. Gray, H. Stalker, 2003, American journal of medical genetics. Part A.

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

J. Charrow, C. Boerkoel, E. Lerut, 2016, Orphanet Journal of Rare Diseases.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

J. Charrow, C. Boerkoel, D. Lewis, 2012, Orphanet Journal of Rare Diseases.

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3‐q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome

Laurie D. Smith, P. Stankiewicz, W. Reardon, 2007, American journal of medical genetics. Part A.

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities

Yaping Yang, M. Leduc, C. Eng, 2018, Human Genetics.

Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders

M. Wallace, R. Carter, R. Zori, 2002, American journal of medical genetics. Part A.

Autism and attention‐deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1

B. O’Roak, E. Fombonne, Rebecca A. Barnard, 2020, Developmental medicine and child neurology.

The association of neurofibromatosis and autism symptomatology is confounded by behavioral problems

B. O’Roak, E. Fombonne, Rebecca A. Barnard, 2019 .

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

J. Hurst, A. Clarke, M. Greenslade, 2017, European Journal of Human Genetics.