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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

JAMA neurology
2022-12-01 | Journal article
DOI: 10.1001/jamaneurol.2022.3651
PMID: 36315135
PMC: PMC9623482
Contributors: McKnight D; Morales A; Hatchell KE; Bristow SL; Bonkowsky JL; Perry MS; Berg AT; Borlot F; Esplin ED; Moretz C et al.
Source: Self-asserted source
Eric A. Muller II

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

American Journal of Human Genetics
2020-08-06 | Journal article
PMID: 32693025
Source: Self-asserted source
Eric A. Muller II

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.

Molecular autism
2019-10-22 | Journal article
DOI: 10.1186/s13229-019-0286-0
PMID: 31649809
PMC: PMC6805429
Source: Self-asserted source
Eric A. Muller II

ALG11‐CDG syndrome: Expanding the phenotype

American Journal of Medical Genetics Part A
2019-03 | Journal article
DOI: 10.1002/ajmg.a.61046
Contributors: Maria K. Haanpää; Bobby G. Ng; Natalie M. Gallant; Kathryn E. Singh; Candida Brown; Virginia Kimonis; Hudson H. Freeze; Eric A. Muller, II
Source: check_circle
Crossref

Cover Image, Volume 179A, Number 3, March 2019

American Journal of Medical Genetics Part A
2019-03 | Journal article
DOI: 10.1002/ajmg.a.61077
Contributors: Maria K. Haanpää; Bobby G. Ng; Natalie M. Gallant; Kathryn E. Singh; Candida Brown; Virginia Kimonis; Hudson H. Freeze; Eric A. Muller, II
Source: check_circle
Crossref

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

Human Molecular Genetics
2017-09-22 | Journal article
PMID: 29036646
Source: Self-asserted source
Eric A. Muller II

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome

American Journal of Medical Genetics, Part A
2014-11 | Journal article
PMID: 25250515
Source: Self-asserted source
Eric A. Muller II

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

American Journal of Medical Genetics, Part A
2012-02 | Journal article
PMID: 22190277
Contributors: Eric Muller II
Source: Self-asserted source
Eric A. Muller II

9q22.3 Microdeletion

In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2011-08-18 | Interactive resource
PMID: 21850767
Contributors: Eric Muller II
Source: Self-asserted source
Eric A. Muller II

Tissue-specific translation of murine branched-chain alpha-ketoacid dehydrogenase kinase mRNA is dependent upon an upstream open reading frame in the 5'-untranslated region

Journal of Biological Chemistry
2004-10-22 | Journal article
PMID:

15302860

Contributors: Eric Muller II
Source: Self-asserted source
Eric A. Muller II

Cooperativity of Staphylococcal aureus Enterotoxin B Superantigen, Major Histocompatibility Complex Class II, and CD80 for Immunotherapy of Advanced Spontaneous Metastases in a Clinically Relevant Postoperative Mouse Breast Cancer Model

Cancer Research
2000-05-15 | Journal article
PMID:

10825145
Contributors: Eric Muller II
Source: Self-asserted source
Eric A. Muller II

Acquisition of iron from host proteins by the group A streptococcus

Infection and Immunity
1996-12 | Journal article
PMID:

8945602
Contributors: Eric Muller II
Source: Self-asserted source
Eric A. Muller II
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