Rehder CW - Search Results

1

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

Griffin NG, Cronin KD, Walley NM, Hulette CM, Grant GA, Mikati MA, LaBreche HG, Rehder CW, Allen AS, Crino PB, Heinzen EL. Griffin NG, et al. Among authors: rehder cw. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001735. doi: 10.1101/mcs.a001735. Print 2017 Sep. Cold Spring Harb Mol Case Stud. 2017. PMID: 28864461 Free PMC article.

2

Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.

Xu Q, Goldstein J, Wang P, Gadi IK, Labreche H, Rehder C, Wang WP, McConkie A, Xu X, Jiang YH. Xu Q, et al. Pediatr Res. 2016 Sep;80(3):371-81. doi: 10.1038/pr.2016.101. Epub 2016 Apr 27. Pediatr Res. 2016. PMID: 27119313 Free PMC article.

3

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A; Undiagnosed Diseases Network; Vilain E, Shashi V. Cope H, et al. Mol Genet Genomic Med. 2021 Jul;9(7):e1665. doi: 10.1002/mgg3.1665. Epub 2021 May 6. Mol Genet Genomic Med. 2021. PMID: 33955715 Free PMC article.

4

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, Rudy NL, Robin NH, Thorland EC, On Behalf Of The Acmg Laboratory Quality Assurance Committee. Gonzales PR, et al. Among authors: rehder cw. Genet Med. 2022 Feb;24(2):255-261. doi: 10.1016/j.gim.2021.10.004. Epub 2021 Dec 3. Genet Med. 2022. PMID: 34906464 Free article.

5

Identification of EPCAM mutation: clinical use of microarray.

Tan QK, Cardona DM, Rehder CW, McDonald MT. Tan QK, et al. Among authors: rehder cw. Clin Case Rep. 2017 May 10;5(6):980-985. doi: 10.1002/ccr3.914. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588851 Free PMC article.

6

Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.

Goldstein JL, Dickerson G, Kishnani PS, Rehder C, Bali DS. Goldstein JL, et al. Muscle Nerve. 2014 May;49(5):775-6. doi: 10.1002/mus.24149. Muscle Nerve. 2014. PMID: 24338800 No abstract available.

7

Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.

Puranam RS, He XP, Yao L, Le T, Jang W, Rehder CW, Lewis DV, McNamara JO. Puranam RS, et al. Among authors: rehder cw. J Neurosci. 2015 Jun 10;35(23):8866-81. doi: 10.1523/JNEUROSCI.3470-14.2015. J Neurosci. 2015. PMID: 26063919 Free PMC article.

8

An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome.

Williams JL, McDonald MT, Seifert BA, Deak KL, Rehder CW, Campbell MJ. Williams JL, et al. Among authors: rehder cw. J Pediatr Genet. 2021 Mar;10(1):35-38. doi: 10.1055/s-0039-1701020. Epub 2020 Jan 20. J Pediatr Genet. 2021. PMID: 33552636 Free PMC article.

9

Chronic lymphocytic leukemia with t(6;14) (p21;q32) CCND3-IGH: CCND3 rearrangement does not necessarily define a cyclin D1-negative mantle cell lymphoma.

Zhao Y, McCracken J, Rehder C, Wang E. Zhao Y, et al. Hematol Oncol. 2022 Feb;40(1):111-114. doi: 10.1002/hon.2930. Epub 2021 Oct 1. Hematol Oncol. 2022. PMID: 34596253 No abstract available.

10

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Mori M, et al. Mol Genet Metab. 2017 Dec;122(4):189-197. doi: 10.1016/j.ymgme.2017.10.008. Epub 2017 Oct 17. Mol Genet Metab. 2017. PMID: 29122469 Free PMC article.

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