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Employment (1)

Children's Hospital of Philadelphia: Philadelphia, Pennsylvania, US

2017-07-01 to present (Genetics)
Employment
Source: Self-asserted source
Alanna Strong

Works (16)

Executive and adaptive function impacts long‐term outcomes for adults with maple syrup urine disease

Journal of Inherited Metabolic Disease
2025-01 | Journal article
DOI: 10.1002/jimd.12827
Contributors: Jessica I. Gold; Alanna Strong; Nina B. Gold; Marc Yudkoff; Dava Szalda; Sophia Jan; Lisa A. Schwartz; Rebecca Ganetzky
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Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome

Genetics in Medicine
2024-10 | Journal article
DOI: 10.1016/j.gim.2024.101222
Contributors: Alanna Strong; Michael E. March; Christopher J. Cardinale; Yichuan Liu; Mark R. Battig; Livia Sertori Finoti; Leticia S. Matsuoka; Deborah Watson; Sindura Sridhar; James F. Jarrett et al.
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Impact of Executive and Adaptive function on functional outcomes in adults with Maple Syrup Urine Disease

2024-05-17 | Preprint
DOI: 10.1101/2024.05.17.24307509
Contributors: Jessica I Gold; Alanna Strong; Nina B Gold; Marc Yudkoff; Dava Szalda; Sophia Jan; Lisa A Schwartz; Rebecca Ganetzky
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Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants

American Journal of Medical Genetics Part A
2024-04 | Journal article
DOI: 10.1002/ajmg.a.63500
Contributors: Helen M. Stanley; Brian R. White; Christopher J. LaRosa; Mark W. Cocalis; J. William Gaynor; Alanna Strong; Balram Gangaram
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TOPORS as a novel causal gene for Joubert syndrome

American Journal of Medical Genetics Part A
2023-08 | Journal article
DOI: 10.1002/ajmg.a.63303
Contributors: Alanna Strong; Hui‐Qi Qu; Sinéad Cullina; Morgan L. McManus; Elaine H. Zackai; Joseph Glessner; Eimear E. Kenny; Hakon Hakonarson
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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

American Journal of Medical Genetics Part A
2023-05 | Journal article
DOI: 10.1002/ajmg.a.63130
Contributors: Alanna Strong; Soumya Rao; Sandra von Hardenberg; Dong Li; Liza L. Cox; Paul C. Lee; Li Q. Zhang; Waheed Awotoye; Tamir Diamond; Jessica Gold et al.
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Crossref

CRISPR gene-editing therapies for hypertrophic cardiomyopathy

Nature Medicine
2023-02 | Journal article
DOI: 10.1038/s41591-022-02184-5
Contributors: Alanna Strong
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TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome

American Journal of Medical Genetics Part A
2022-12 | Journal article
DOI: 10.1002/ajmg.a.62972
Contributors: Guozhuang Li; Alanna Strong; Haojun Wang; Ji‐Sun Kim; Deborah Watson; Sen Zhao; Courtney Vaccaro; Erum Hartung; Hakon Hakonarson; Terry Jianguo Zhang et al.
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Delayed diagnosis and racial bias in children with genetic conditions

American Journal of Medical Genetics Part A
2022-04 | Journal article
DOI: 10.1002/ajmg.a.62626
Contributors: Jacklyn Omorodion; Leah Dowsett; Robin D. Clark; Jamie Fraser; Aya Abu‐El‐Haija; Alanna Strong; Monica H. Wojcik; Allison S. Bryant; Nina B. Gold
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A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

American Journal of Medical Genetics Part A
2022-02 | Journal article
DOI: 10.1002/ajmg.a.62537
Contributors: Alanna Strong; Michael E. March; Christopher J. Cardinale; Sophia E. Kim; Jamie Merves; Hilary Whitworth; Leslie Raffini; Christopher Larosa; Lawrence Copelovitch; Cuiping Hou et al.
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Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes

American Journal of Medical Genetics Part A
2021-12 | Journal article
DOI: 10.1002/ajmg.a.62449
Contributors: Alanna Strong; Cara Skraban; Kevin Meyers; Sandra Amaral; Susan Furth; Stacey Drant; Wendy Hsiao; Lauren Galea; Jessica Gold; Nina B. Gold et al.
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Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes

American Journal of Medical Genetics Part A
2021-08 | Journal article
DOI: 10.1002/ajmg.a.62337
Contributors: Alanna Strong; Laurie Simone; Anthony Krentz; Courtney Vaccaro; Deborah Watson; Hayley Ron; Jennifer M. Kalish; Helio F. Pedro; Elaine H. Zackai; Hakon Hakonarson
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A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213

American Journal of Medical Genetics Part A
2021-07 | Journal article
DOI: 10.1002/ajmg.a.62215
Contributors: Alanna Strong; Gina O'Grady; Evelyn Shih; Jonathan R. Bishop; Kathleen Loomes; Tamir Diamond; Erum A. Hartung; William Wong; Sanmati Cuddapah; Anne Marie Cahill et al.
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A novel heterotaxy gene: Expansion of the phenotype of TTC21B‐spectrum disease

American Journal of Medical Genetics Part A
2021-04 | Journal article
DOI: 10.1002/ajmg.a.62093
Contributors: Alanna Strong; Dong Li; Frank Mentch; Hakon Hakonarson
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Crossref

Ciliopathies: Coloring outside of the lines

American Journal of Medical Genetics Part A
2021-03 | Journal article
DOI: 10.1002/ajmg.a.62013
Contributors: Alanna Strong; Dong Li; Frank Mentch; Emma Bedoukian; Erum A. Hartung; Kevin Meyers; Cara Skraban; Jessica Wen; Livija Medne; Joseph Glessner et al.
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Isosorbide dinitrate in nephronophthisis treatment

American Journal of Medical Genetics Part A
2018-04 | Journal article
DOI: 10.1002/ajmg.a.38650
Contributors: Alanna Strong; Samina Muneeruddin; Richard Parrish; Daniel Lui; Susan B Conley
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Peer review (3 reviews for 2 publications/grants)

Review activity for Nature medicine. (2)
Review activity for npj genomic medicine. (1)
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