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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet. 2020 Sep 3;107(3):499-513. doi: 10.1016/j.ajhg.2020.06.018. Epub 2020 Jul 27.
Am J Hum Genet. 2020.
PMID: 32721402
Free PMC article.
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: dave wala a.
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.
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Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA.
Abreu NJ, et al. Among authors: dave wala a.
Am J Med Genet A. 2020 Mar;182(3):557-560. doi: 10.1002/ajmg.a.61452. Epub 2019 Dec 12.
Am J Med Genet A. 2020.
PMID: 31833174
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Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.
Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE.
Schieffer KM, et al. Among authors: dave wala a.
Eur J Med Genet. 2019 Aug;62(8):103701. doi: 10.1016/j.ejmg.2019.103701. Epub 2019 Jun 10.
Eur J Med Genet. 2019.
PMID: 31195167
Free PMC article.
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