Works by Strong, Alanna

Results: 33

Cryptophthalmos: associated syndromes and genetic disorders.

Published in:

Ophthalmic Genetics, 2023, v. 44, n. 6, p. 547, doi. 10.1080/13816810.2023.2237568

By:

Landau-Prat, Daphna;
Kim, Diana H.;
Bautista, Sana;
Strong, Alanna;
Revere, Karen E.;
Katowitz, William R.;
Katowitz, James A.

Publication type:

Article

Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.

Published in:

2021

By:

Prat, Daphna;
Katowitz, William R.;
Strong, Alanna;
Katowitz, James A.

Publication type:

Report

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 6, p. 1, doi. 10.1002/ajmg.a.64011

By:

Watson, Deborah;
Mentch, Frank;
Billings, Jonathan;
Ostberg, Kayleigh;
March, Michael E.;
Kalish, Jennifer M.;
Li, Dong;
Cannon, India;
Guay‐Woodford, Lisa M.;
Hartung, Erum;
Strong, Alanna

Publication type:

Article

Long‐Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 4, p. 1, doi. 10.1002/ajmg.a.63940

By:

Grady, Lauren O′;
Zoltick, Emilie S.;
Zouk, Hana;
He, Wei;
Perez, Emma;
Clarke, Lorne;
Gold, Jessica;
Strong, Alanna;
Sahai, Inderneel;
Yeo, Julie;
Green, Robert C.;
Karaa, Amel;
Gold, Nina B.

Publication type:

Article

Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63500

By:

Stanley, Helen M.;
White, Brian R.;
LaRosa, Christopher J.;
Cocalis, Mark W.;
Gaynor, J. William;
Strong, Alanna;
Gangaram, Balram

Publication type:

Article

TOPORS as a novel causal gene for Joubert syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2156, doi. 10.1002/ajmg.a.63303

By:

Strong, Alanna;
Qu, Hui‐Qi;
Cullina, Sinéad;
McManus, Morgan L.;
Zackai, Elaine H.;
Glessner, Joseph;
Kenny, Eimear E.;
Hakonarson, Hakon

Publication type:

Article

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1227, doi. 10.1002/ajmg.a.63130

By:

Strong, Alanna;
Rao, Soumya;
von Hardenberg, Sandra;
Li, Dong;
Cox, Liza L.;
Lee, Paul C.;
Zhang, Li Q.;
Awotoye, Waheed;
Diamond, Tamir;
Gold, Jessica;
Gooch, Catherine;
Gowans, Lord Jephthah Joojo;
Hakonarson, Hakon;
Hing, Anne;
Loomes, Kathleen;
Martin, Nicole;
Marazita, Mary L.;
Mononen, Tarja;
Piccoli, David;
Pfundt, Rolph

Publication type:

Article

TBX6 as a cause of a combined skeletal‐kidney dysplasia syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3469, doi. 10.1002/ajmg.a.62972

By:

Li, Guozhuang;
Strong, Alanna;
Wang, Haojun;
Kim, Ji‐Sun;
Watson, Deborah;
Zhao, Sen;
Vaccaro, Courtney;
Hartung, Erum;
Hakonarson, Hakon;
Zhang, Terry Jianguo;
Giampietro, Philip F.;
Wu, Nan

Publication type:

Article

Delayed diagnosis and racial bias in children with genetic conditions.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1118, doi. 10.1002/ajmg.a.62626

By:

Omorodion, Jacklyn;
Dowsett, Leah;
Clark, Robin D.;
Fraser, Jamie;
Abu‐El‐Haija, Aya;
Strong, Alanna;
Wojcik, Monica H.;
Bryant, Allison S.;
Gold, Nina B.

Publication type:

Article

A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 463, doi. 10.1002/ajmg.a.62537

By:

Strong, Alanna;
March, Michael E.;
Cardinale, Christopher J.;
Kim, Sophia E.;
Merves, Jamie;
Whitworth, Hilary;
Raffini, Leslie;
Larosa, Christopher;
Copelovitch, Lawrence;
Hou, Cuiping;
Slater, Diana;
Vaccaro, Courtney;
Watson, Deborah;
Zackai, Elaine H.;
Billheimer, Jeffrey;
Hakonarson, Hakon

Publication type:

Article

Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3762, doi. 10.1002/ajmg.a.62449

By:

Strong, Alanna;
Skraban, Cara;
Meyers, Kevin;
Amaral, Sandra;
Furth, Susan;
Drant, Stacey;
Hsiao, Wendy;
Galea, Lauren;
Gold, Jessica;
Gold, Nina B.;
Leonard, Jacqueline;
Lopez, Sonya;
Zackai, Elaine H.;
Pyeritz, Reed E.

Publication type:

Article

Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2409, doi. 10.1002/ajmg.a.62337

By:

Strong, Alanna;
Simone, Laurie;
Krentz, Anthony;
Vaccaro, Courtney;
Watson, Deborah;
Ron, Hayley;
Kalish, Jennifer M.;
Pedro, Helio F.;
Zackai, Elaine H.;
Hakonarson, Hakon

Publication type:

Article

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2168, doi. 10.1002/ajmg.a.62215

By:

Strong, Alanna;
O'Grady, Gina;
Shih, Evelyn;
Bishop, Jonathan R.;
Loomes, Kathleen;
Diamond, Tamir;
Hartung, Erum A.;
Wong, William;
Cuddapah, Sanmati;
Cahill, Anne Marie;
Hou, Cuiping;
Slater, Diana;
Vaccaro, Courtney;
Watson, Deborah;
Li, Dong;
Hakonarson, Hakon

Publication type:

Article

A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1266, doi. 10.1002/ajmg.a.62093

By:

Strong, Alanna;
Dong Li;
Mentch, Frank;
Hakonarson, Hakon

Publication type:

Article

Ciliopathies: Coloring outside of the lines.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 687, doi. 10.1002/ajmg.a.62013

By:

Strong, Alanna;
Li, Dong;
Mentch, Frank;
Bedoukian, Emma;
Hartung, Erum A.;
Meyers, Kevin;
Skraban, Cara;
Wen, Jessica;
Medne, Livija;
Glessner, Joseph;
Watson, Deborah;
Krantz, Ian;
Hakonarson, Hakon

Publication type:

Article

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2926, doi. 10.1002/ajmg.a.61883

By:

Cohen, Jennifer L.;
Schrier Vergano, Samantha A.;
Mazzola, Sarah;
Strong, Alanna;
Keena, Beth;
McDougall, Carey;
Ritter, Alyssa;
Li, Dong;
Bedoukian, Emma C.;
Burke, Leah W.;
Hoffman, Amber;
Zurcher, Victoria;
Krantz, Ian D.;
Izumi, Kosuke;
Bhoj, Elizabeth;
Zackai, Elaine H.;
Deardorff, Matthew A.

Publication type:

Article

Isosorbide dinitrate in nephronophthisis treatment.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1023, doi. 10.1002/ajmg.a.38650

By:

Strong, Alanna;
Muneeruddin, Samina;
Parrish, Richard;
Lui, Daniel;
Conley, Susan B.

Publication type:

Article

Targeted treatment of migrating partial seizures of infancy with quinidine.

Published in:

Annals of Neurology, 2014, v. 76, n. 3, p. 457, doi. 10.1002/ana.24229

By:

Bearden, David;
Strong, Alanna;
Ehnot, Jessica;
DiGiovine, Marissa;
Dlugos, Dennis;
Goldberg, Ethan M.

Publication type:

Article

Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 8, p. 2807, doi. 10.1172/JCI63563

By:

Strong, Alanna;
Ding, Qiurong;
Edmondson, Andrew C.;
Millar, John S.;
Sachs, Katherine V.;
Xiaoyu Li;
Kumaravel, Arthi;
Wang, Margaret Ye;
Ai, Ding;
Guo, Liang;
Alexander, Eric T.;
Nguyen, David;
Lund-Katz, Sissel;
Phillips, Michael C.;
Morales, Carlos R.;
Tall, Alan R.;
Kathiresan, Sekar;
Fisher, Edward A.;
Musunuru, Kiran;
Rader, Daniel J.

Publication type:

Article

Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 7, p. 1, doi. 10.1172/JCI63563

By:

Strong, Alanna;
Ding, Qiurong;
Edmondson, Andrew C.;
Millar, John S.;
Sachs, Katherine V.;
Li, Xiaoyu;
Kumaravel, Arthi;
Ye Wang, Margaret;
Ding Ai;
Guo, Liang;
Alexander, Eric T.;
Nguyen, David;
Lund-Katz, Sissel;
Phillips, Michael C.;
Morales, Carlos R.;
Tall, Alan R.;
Kathiresan, Sekar;
Fisher, Edward A.;
Musunuru, Kiran;
Rader, Daniel J.

Publication type:

Article

Activation of ER stress and mTORC1 suppresses hepatic sortilin-1 levels in obese mice.

Published in:

Journal of Clinical Investigation, 2012, v. 122, n. 5, p. 1677, doi. 10.1172/JCI61248

By:

Ai, Ding;
Baez, Juan M.;
Jiang, Hongfeng;
Conlon, Donna M.;
Hernandez-Ono, Antonio;
Frank-Kamenetsky, Maria;
Milstein, Stuart;
Fitzgerald, Kevin;
Murphy, Andrew J.;
Woo, Connie W.;
Strong, Alanna;
Ginsberg, Henry N.;
Tabas, Ira;
Rader, Daniel J.;
Tall, Alan R.

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12827

By:

Gold, Jessica I.;
Strong, Alanna;
Gold, Nina B.;
Yudkoff, Marc;
Szalda, Dava;
Jan, Sophia;
Schwartz, Lisa A.;
Ganetzky, Rebecca

Publication type:

Article

Perspectives of Rare Disease Experts on Newborn Genome Sequencing.

Published in:

JAMA Network Open, 2023, v. 6, n. 5, p. e2312231, doi. 10.1001/jamanetworkopen.2023.12231

By:

Gold, Nina B.;
Adelson, Sophia M.;
Shah, Nidhi;
Williams, Shardae;
Bick, Sarah L.;
Zoltick, Emilie S.;
Gold, Jessica I.;
Strong, Alanna;
Ganetzky, Rebecca;
Roberts, Amy E.;
Walker, Melissa;
Holtz, Alexander M.;
Sankaran, Vijay G.;
Delmonte, Ottavia;
Tan, Weizhen;
Holm, Ingrid A.;
Thiagarajah, Jay R.;
Kamihara, Junne;
Comander, Jason;
Place, Emily

Publication type:

Article

"Blepharophimosis‐plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis.

Published in:

Clinical & Experimental Ophthalmology, 2021, v. 49, n. 5, p. 448, doi. 10.1111/ceo.13933

By:

Landau Prat, Daphna;
Nguyen, Brian J.;
Strong, Alanna;
Katowitz, William R.;
Katowitz, James A.

Publication type:

Article

The ulcerative colitis risk gene adenylyl cyclase 7 restrains the T-helper 2 phenotype and Class II antigen presentation.

Published in:

Journal of Crohn's & Colitis, 2025, v. 19, n. 3, p. 1, doi. 10.1093/ecco-jcc/jjaf030

By:

Cardinale, Christopher J;
Liu, Yichuan;
Kevadia, Aayush;
Strong, Alanna;
Watts, Val J;
Hakonarson, Hakon

Publication type:

Article

Sortilin as a Regulator of Lipoprotein Metabolism.

Published in:

Current Atherosclerosis Reports, 2012, v. 14, n. 3, p. 211, doi. 10.1007/s11883-012-0248-x

By:

Strong, Alanna;
Rader, Daniel

Publication type:

Article

Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies.

Published in:

Seminars in Ophthalmology, 2024, v. 39, n. 7, p. 552, doi. 10.1080/08820538.2024.2345291

By:

Landau-Prat, Daphna;
Marshall, Rayna;
Strong, Alanna;
Katowitz, James A.;
Katowitz, William R.

Publication type:

Article

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

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00610-4

By:

Li, Dong;
Strong, Alanna;
Hou, Cuiping;
Downes, Helen;
Pritchard, Amanda Barone;
Mazzeo, Pamela;
Zackai, Elaine H.;
Conlin, Laura K.;
Hakonarson, Hakon

Publication type:

Article

Ocular manifestations of ectodermal dysplasia.

Published in:

2021

By:

Landau Prat, Daphna;
Katowitz, William R.;
Strong, Alanna;
Katowitz, James A.

Publication type:

journal article

Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.

Published in:

2020

By:

Pritchard, Amanda Barone;
Strong, Alanna;
Ficicioglu, Can

Publication type:

journal article

Lessons Learned From the Long-Term Use of Enzyme Replacement Therapy in the Treatment of Lysosomal Acid Lipase Deficiency.

Published in:

2022

By:

Strong, Alanna;
Ficicioglu, Can

Publication type:

journal article

Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27641-0

By:

Strong, Alanna;
Behr, Meckenzie;
Lott, Carina;
Clark, Abigail J.;
Mentch, Frank;
Da Silva, Renata Pellegrino;
Rux, Danielle R.;
Campbell, Robert;
Skraban, Cara;
Wang, Xiang;
Anari, Jason B.;
Sinder, Benjamin;
Cahill, Patrick J.;
Sleiman, Patrick;
Hakonarson, Hakon

Publication type:

Article

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.

Published in:

Nature, 2010, v. 466, n. 7307, p. 714, doi. 10.1038/nature09266

By:

Musunuru, Kiran;
Strong, Alanna;
Frank-Kamenetsky, Maria;
Lee, Noemi E.;
Ahfeldt, Tim;
Sachs, Katherine V.;
Xiaoyu Li;
Hui Li;
Kuperwasser, Nicolas;
Ruda, Vera M.;
Pirruccello, James P.;
Muchmore, Brian;
Prokunina-Olsson, Ludmila;
Hall, Jennifer L.;
Schadt, Eric E.;
Morales, Carlos R.;
Lund-Katz, Sissel;
Phillips, Michael C.;
Wong, Jamie;
Cantley, William

Publication type:

Article