Cornelius F Boerkoel
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Explore the profile of Cornelius F Boerkoel including associated specialties, affiliations and a list of published articles.
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132
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3646
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Recent Articles
1.
Akbari V, Dada S, Shen Y, Dixon K, Hejla D, Galbraith A, et al.
J Med Genet
. 2024 Nov;
62(1):32-36.
PMID: 39537351
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic testing begins with methylation-specific multiplex...
2.
Roychaudhury A, Lee Y, Choi T, Thomas M, Khan T, Yousaf H, et al.
Ann Neurol
. 2024 Jul;
96(5):914-931.
PMID: 39073169
Objective: Intellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X-linked intellectual disability (XLID) is a subset of these...
3.
Xu Y, Song R, Perszyk R, Chen W, Kim S, Park K, et al.
Cell Mol Life Sci
. 2024 Mar;
81(1):153.
PMID: 38538865
N-methyl-D-aspartate receptors (NMDARs) are members of the glutamate receptor family and participate in excitatory postsynaptic transmission throughout the central nervous system. Genetic variants in GRIN genes encoding NMDAR subunits are...
4.
Hejla D, Huynh S, Samra S, Richmond P, Dalmann J, Del Bel K, et al.
Am J Med Genet A
. 2024 Jan;
194(6):e63548.
PMID: 38264805
Pathogenic PHF21A variation causes PHF21A-related neurodevelopmental disorders (NDDs). Although amorphic alleles, including haploinsufficiency, have been established as a disease mechanism, increasing evidence suggests that missense variants as well as frameshift...
5.
Elbert A, Dixon K, Shen Y, Hamilton S, Boerkoel C, Jones S, et al.
Neurol Genet
. 2024 Jan;
10(1):e200114.
PMID: 38170145
Objectives: To investigate the etiology of cerebellar ataxia in an adult male patient. Methods: We performed standard neurologic assessment and genome sequencing of a 62-year-old man with rapidly progressive balance...
6.
Di Francesco D, Swenerton A, Li W, Dunham C, Hendson G, Boerkoel C
Am J Med Genet A
. 2023 Sep;
191(12):2903-2907.
PMID: 37665043
Complex heart defects (CHD) are a common malformation associated with disruption of developmental pathways. The Cullin-RING ligases (CRLs) are multi-subunit E3 ubiquitin ligases in which Cullin 3 (CUL3) serves as...
7.
Sage A, Lee H, Dalmann J, Lin S, Samra S, Salman A, et al.
Am J Med Genet A
. 2023 May;
191(8):2219-2224.
PMID: 37196051
Tandem splice acceptors (NAGN AG) are a common mechanism of alternative splicing, but variants that are likely to generate or to disrupt tandem splice sites have rarely been reported as...
8.
Moller-Hansen A, Hejla D, Lee H, Lyles J, Yang Y, Chen K, et al.
Am J Med Genet A
. 2023 May;
191(8):2181-2187.
PMID: 37141437
To date, PACS1-neurodevelopmental disorder (PACS1-NDD) has been associated with recurrent variation of Arg203 and is considered diagnostic of PACS1-NDD, an autosomal dominant syndromic intellectual disability disorder. Although incompletely defined, the...
9.
Boerkoel P, Huynh S, Yang G, Boerkoel C, Patel M, Lehman A, et al.
Am J Med Genet A
. 2023 Mar;
191(6):1593-1598.
PMID: 36866832
The Notch proteins play key roles in cell fate determination during development. Germline pathogenic variants in NOTCH1 predispose to a spectrum of cardiovascular malformations including Adams-Oliver syndrome and a wide...
10.
Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara E, et al.
NPJ Genom Med
. 2023 Feb;
8(1):4.
PMID: 36765070
Autophagy regulates the degradation of damaged organelles and protein aggregates, and is critical for neuronal development, homeostasis, and maintenance, yet few neurodevelopmental disorders have been associated with pathogenic variants in...