Pfau RB - Search Results

1

Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction.

Abreu NJ, Siemon AE, Baylis AL, Kirschner RE, Pfau RB, Ho ML, Hickey SE, Truxal KV. Abreu NJ, et al. Among authors: pfau rb. Clin Case Rep. 2022 Feb 11;10(2):e05277. doi: 10.1002/ccr3.5277. eCollection 2022 Feb. Clin Case Rep. 2022. PMID: 35169466 Free PMC article.

2

Hypomorphic alleles pose challenges in rare disease genomic variant interpretation.

Nolan DK, Chaudhari B, Franklin SJ, Wijeratne S, Pfau R, Mihalic Mosher T, Crist E, McBride KL, White P, Wilson RK, Hickey SE, Koboldt DC. Nolan DK, et al. Clin Genet. 2021 Dec;100(6):775-776. doi: 10.1111/cge.14052. Epub 2021 Sep 3. Clin Genet. 2021. PMID: 34476810

3

Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.

Hickey SE, Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW. Hickey SE, et al. Among authors: pfau rb. Am J Med Genet A. 2013 Sep;161A(9):2294-9. doi: 10.1002/ajmg.a.36034. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897859

4

CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.

Repnikova EA, Lyalin DA, McDonald K, Astbury C, Hansen-Kiss E, Cooley LD, Pfau R, Herman GE, Pyatt RE, Hickey SE. Repnikova EA, et al. Eur J Med Genet. 2020 Jan;63(1):103636. doi: 10.1016/j.ejmg.2019.02.008. Epub 2019 Mar 2. Eur J Med Genet. 2020. PMID: 30836150

5

5' ALK Amplification in Neuroblastoma: A Case Report.

Akhavanfard S, Nohr E, AlNajjar M, Haughn M, Hashimoto S, Deeg C, Pfau R, Brundler MA, Reshmi SC. Akhavanfard S, et al. Case Rep Oncol. 2021 Mar 23;14(1):585-591. doi: 10.1159/000512187. eCollection 2021 Jan-Apr. Case Rep Oncol. 2021. PMID: 33976638 Free PMC article.

6

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Miller CR, Lee K, Pfau RB, Reshmi SC, Corsmeier DJ, Hashimoto S, Dave-Wala A, Jayaraman V, Koboldt D, Matthews T, Mouhlas D, Stein M, McKinney A, Grossman T, Kelly BJ, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Miller CR, et al. Among authors: pfau rb. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005231. doi: 10.1101/mcs.a005231. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32371413 Free PMC article.

7

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

Barrie ES, Li Y, Lamb-Thrush D, Hashimoto S, Matthews T, Mouhlas D, Pyatt R, Reshmi SC, Gastier-Foster JM, Pfau R, Astbury C. Barrie ES, et al. Eur J Med Genet. 2018 Jul;61(7):416-420. doi: 10.1016/j.ejmg.2018.02.008. Epub 2018 Mar 20. Eur J Med Genet. 2018. PMID: 29572065

8

EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors.

Koo SC, Schieffer KM, Lee K, Gupta A, Pfau RB, Avenarius MR, Stonerock E, LaHaye S, Fitch J, Setty BA, Roberts R, Ranalli M, Conces MR, Bu F, Mardis ER, Cottrell CE. Koo SC, et al. Among authors: pfau rb. Genes Chromosomes Cancer. 2023 Jan;62(1):17-26. doi: 10.1002/gcc.23087. Epub 2022 Jul 25. Genes Chromosomes Cancer. 2023. PMID: 35801295

9

De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome.

Barrie ES, Alfaro MP, Pfau RB, Goff MJ, McBride KL, Manickam K, Zmuda EJ. Barrie ES, et al. Among authors: pfau rb. Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4):a004044. doi: 10.1101/mcs.a004044. Print 2019 Aug. Cold Spring Harb Mol Case Stud. 2019. PMID: 31171569 Free PMC article.

10

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

Pfau RB, Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M, Tan C, del Gaudio D, Gastier-Foster JM, Astbury C. Pfau RB, et al. Eur J Med Genet. 2013 Nov;56(11):609-13. doi: 10.1016/j.ejmg.2013.09.007. Epub 2013 Sep 27. Eur J Med Genet. 2013. PMID: 24080358

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