Pritchard AB - Search Results

1

Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, Kuentz P, Palculict TB, Hoover-Fong JE. Albokhari D, et al. Among authors: pritchard ab. Am J Med Genet A. 2023 May;191(5):1261-1272. doi: 10.1002/ajmg.a.63142. Epub 2023 Feb 16. Am J Med Genet A. 2023. PMID: 36797513 Review.

2

Inborn error of metabolism patients after liver transplantation: Outcomes of 35 patients over 27 years in one pediatric quaternary hospital.

Pritchard AB, Izumi K, Payan-Walters I, Yudkoff M, Rand EB, Bhoj E. Pritchard AB, et al. Am J Med Genet A. 2022 May;188(5):1443-1447. doi: 10.1002/ajmg.a.62659. Epub 2022 Jan 23. Am J Med Genet A. 2022. PMID: 35068050

3

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.

Kortbawi H, Ames E, Pritchard A, Devine P, van Ziffle J, Slavotinek A. Kortbawi H, et al. Am J Med Genet A. 2022 Aug;188(8):2479-2484. doi: 10.1002/ajmg.a.62765. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35491967

4

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.

Gracie S, Deshpande P, Hollos P, De Dios K, Martin DM, Pritchard AB, Scott Schwoerer JA, Behrmann MR, Seaver LH, Brown K, Fernandez RJ, Larson A, Coffey E. Gracie S, et al. Among authors: pritchard ab. Am J Med Genet A. 2024 Nov 6:e63927. doi: 10.1002/ajmg.a.63927. Online ahead of print. Am J Med Genet A. 2024. PMID: 39503049

5

Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.

Pritchard AB, Kanai SM, Krock B, Schindewolf E, Oliver-Krasinski J, Khalek N, Okashah N, Lambert NA, Tavares ALP, Zackai E, Clouthier DE. Pritchard AB, et al. Am J Med Genet A. 2020 May;182(5):1104-1116. doi: 10.1002/ajmg.a.61531. Epub 2020 Mar 5. Am J Med Genet A. 2020. PMID: 32133772 Free PMC article.

6

Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency.

Pritchard AB. Pritchard AB. Am J Med Genet C Semin Med Genet. 2024 Nov;196(2-3):e32115. doi: 10.1002/ajmg.c.32115. Epub 2024 Sep 17. Am J Med Genet C Semin Med Genet. 2024. PMID: 39285751 No abstract available.

7

Trainee perspectives of COVID-19 impact on medical genetics education.

Pritchard AB, Sloan-Heggen C, Keegan CE, Quinonez SC. Pritchard AB, et al. Genet Med. 2021 May;23(5):956-962. doi: 10.1038/s41436-020-01072-y. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580226 Free PMC article.

8

What not to expect when you're expecting: Unusual cases of placental mosaicism detected on non-invasive prenatal screening.

Pritchard AB, Grand K, Hopkins M, Schindewolf E, Dugoff L, Bhoj E. Pritchard AB, et al. Eur J Med Genet. 2020 Jun;63(6):103895. doi: 10.1016/j.ejmg.2020.103895. Epub 2020 Feb 19. Eur J Med Genet. 2020. PMID: 32084610 No abstract available.

9

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.

Li D, Strong A, Hou C, Downes H, Pritchard AB, Mazzeo P, Zackai EH, Conlin LK, Hakonarson H. Li D, et al. Among authors: pritchard ab. Mol Cytogenet. 2022 Aug 5;15(1):33. doi: 10.1186/s13039-022-00610-4. Mol Cytogenet. 2022. PMID: 35932041 Free PMC article.

10

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.

Pritchard AB, Strong A, Ficicioglu C. Pritchard AB, et al. Orphanet J Rare Dis. 2020 Feb 24;15(1):58. doi: 10.1186/s13023-020-1328-6. Orphanet J Rare Dis. 2020. PMID: 32093730 Free PMC article.

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