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Case Report: SATB2 -Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases.
Published in:
Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.692087
By:
- Zarate, Yuri A.;
- Vernon, Hilary J.;
- Bosanko, Katherine A.;
- Ramani, Praveen K.;
- Gokden, Murat;
- Writzl, Karin;
- Meznaric, Marija;
- Vipotnik Vesnaver, Tina;
- Ramakrishnaiah, Raghu;
- Osredkar, Damjan
Publication type:
Article
Genetic counseling graduate training to address religion and spirituality in clinical practice: A qualitative exploration of programs in North America.
Published in:
Journal of Genetic Counseling, 2020, v. 29, n. 6, p. 1245, doi. 10.1002/jgc4.1289
By:
- Murray, Alise;
- Warren, Nancy Steinberg;
- Bosanko, Katherine;
- Williamson Dean, Lori
Publication type:
Article
Dental radiographic findings in 18 individuals with SATB2-associated syndrome.
Published in:
Clinical Oral Investigations, 2018, v. 22, n. 8, p. 2947, doi. 10.1007/s00784-018-2702-9
By:
- Scott, John;
- Adams, Chad;
- Simmons, Kirt;
- Feather, Andrea;
- Jones, John;
- Hartzell, Larry;
- Wesley, Lucia;
- Johnson, Adam;
- Fish, Jennifer;
- Bosanko, Katherine;
- Beetstra, Stephen;
- Zarate, Yuri A.
Publication type:
Article
Bone health in SATB2‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 203, doi. 10.1002/ajmg.a.63421
By:
- Zarate, Yuri A.;
- Bosanko, Katherine;
- Andres, Aline;
- Fish, Jennifer L.
Publication type:
Article
Growth in individuals with SATB2‐associated syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2952, doi. 10.1002/ajmg.a.62896
By:
- Zarate, Yuri A.;
- Kannan, Amrit;
- Bosanko, Katherine A.;
- Caffrey, Aisling R.
Publication type:
Article
SATB2‐associated syndrome in adolescents and adults.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2391, doi. 10.1002/ajmg.a.62258
By:
- Zarate, Yuri A.;
- Bosanko, Katherine A.;
- Caffrey, Aisling R.
Publication type:
Article
Cover Image, Volume 176A, Number 4, April 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1, doi. 10.1002/ajmg.a.38671
By:
- Zarate, Yuri A.;
- Smith‐Hicks, Constance L.;
- Greene, Carol;
- Abbott, Mary‐Alice;
- Siu, Victoria M.;
- Calhoun, Amy R. U. L.;
- Pandya, Arti;
- Li, Chumei;
- Sellars, Elizabeth A.;
- Kaylor, Julie;
- Bosanko, Katherine;
- Kalsner, Louisa;
- Basinger, Alice;
- Slavotinek, Anne M.;
- Perry, Hazel;
- Saenz, Margarita;
- Szybowska, Marta;
- Wilson, Louise C.;
- Kumar, Ajith;
- Brain, Caroline
Publication type:
Article
Natural history and genotype‐phenotype correlations in 72 individuals with <italic>SATB2</italic>‐associated syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 925, doi. 10.1002/ajmg.a.38630
By:
- Zarate, Yuri A.;
- Smith‐Hicks, Constance L.;
- Greene, Carol;
- Abbott, Mary‐Alice;
- Siu, Victoria M.;
- Calhoun, Amy R. U. L.;
- Pandya, Arti;
- Li, Chumei;
- Sellars, Elizabeth A.;
- Kaylor, Julie;
- Bosanko, Katherine;
- Kalsner, Louisa;
- Basinger, Alice;
- Slavotinek, Anne M.;
- Perry, Hazel;
- Saenz, Margarita;
- Szybowska, Marta;
- Wilson, Louise C.;
- Kumar, Ajith;
- Brain, Caroline
Publication type:
Article
Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 487, doi. 10.1002/ajmg.a.38532
By:
- Ittleman, Benjamin R.;
- Mckissick, Jasmine;
- Bosanko, Katherine A.;
- Ocal, Eylem;
- Golinko, Michael;
- Zarate, Yuri A.
Publication type:
Article
First clinical report of an infant with microcephaly and CASC5 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2215, doi. 10.1002/ajmg.a.37726
By:
- Zarate, Yuri A.;
- Kaylor, Julie A.;
- Bosanko, Katherine;
- Lau, Sarah;
- Vargas, Jose;
- Gao, Hanlin
Publication type:
Article
COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1858, doi. 10.1002/ajmg.a.37664
By:
- Zarate, Yuri A.;
- Clingenpeel, Rachel;
- Sellars, Elizabeth A.;
- Tang, Xinyu;
- Kaylor, Julie A.;
- Bosanko, Katherine;
- Linam, Leann E.;
- Byers, Peter H.
Publication type:
Article
Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2168, doi. 10.1002/ajmg.a.37126
By:
- Zarate, Yuri A.;
- Bosanko, Katherine A.;
- Bhoj, Elizabeth;
- Ganetzky, Rebecca;
- Starr, Lois J.;
- Zackai, Elaine H.;
- Schaefer, G. Bradley
Publication type:
Article
Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant.
Published in:
2014
By:
- Zarate, Yuri A.;
- Bosanko, Katherine A.;
- Jarasvaraparn, Chaowapong;
- Vengoechea, Jaime;
- McDonough, Elizabeth M.
Publication type:
Case Study
Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome.
Published in:
Clinical Genetics, 2024, v. 106, n. 2, p. 209, doi. 10.1111/cge.14540
By:
- Zarate, Yuri A.;
- Bosanko, Katherine;
- Derar, Nada;
- Fish, Jennifer L.
Publication type:
Article
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Published in:
Clinical Genetics, 2021, v. 99, n. 4, p. 547, doi. 10.1111/cge.13912
By:
- Zarate, Yuri A.;
- Bosanko, Katherine A.;
- Thomas, Mary Ann;
- Miller, David T.;
- Cusmano‐Ozog, Kristina;
- Martinez‐Monseny, Antonio;
- Curry, Cynthia J.;
- Graham, John M.;
- Velsher, Lea;
- Bekheirnia, Mir Reza;
- Seidel, Veronica;
- Dedousis, Demitrios;
- Mitchell, Anna L.;
- DiMarino, Amy M.;
- Riess, Angelika;
- Balasubramanian, Meena;
- Fish, Jennifer L.;
- Caffrey, Aisling R.;
- Fleischer, Nicole;
- Pierson, Tyler Mark
Publication type:
Article
An infant with ash-leaf and café au lait spots: a case of double phakomatosis.
Published in:
Acta Neurologica Belgica, 2017, v. 117, n. 1, p. 323, doi. 10.1007/s13760-016-0638-x
By:
- Samanta, Debopam;
- Bosanko, Katherine;
- Zarate, Yuri
Publication type:
Article
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.
Published in:
Human Mutation, 2023, p. 1, doi. 10.1155/2023/8200176
By:
- Zarate, Yuri A.;
- Bosanko, Katherine;
- Kannan, Amrit;
- Thomason, Ashlen;
- Nutt, Beth;
- Kumar, Nihit;
- Simmons, Kirt;
- Hiegert, Aaron;
- Hartzell, Larry;
- Johnson, Adam;
- Prater, Tabitha;
- Pérez-Palma, Eduardo;
- Brünger, Tobias;
- Stefanski, Arthur;
- Lal, Dennis;
- Caffrey, Aisling R.
Publication type:
Article
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Published in:
Human Mutation, 2020, v. 41, n. 3, p. 641, doi. 10.1002/humu.23960
By:
- Assia Batzir, Nurit;
- Kishor Bhagwat, Pranjali;
- Larson, Austin;
- Coban Akdemir, Zeynep;
- Bagłaj, Maciej;
- Bofferding, Leon;
- Bosanko, Katherine B.;
- Bouassida, Skander;
- Callewaert, Bert;
- Cannon, Ashley;
- Enchautegui Colon, Yazmin;
- Garnica, Adolfo D.;
- Harr, Margaret H.;
- Heck, Sandra;
- Hurst, Anna C. E.;
- Jhangiani, Shalini N.;
- Isidor, Bertrand;
- Littlejohn, Rebecca O.;
- Liu, Pengfei;
- Magoulas, Pilar
Publication type:
Article
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 299, doi. 10.1002/humu.23929
By:
- Koczkowska, Magdalena;
- Callens, Tom;
- Chen, Yunjia;
- Gomes, Alicia;
- Hicks, Alesha D.;
- Sharp, Angela;
- Johns, Eric;
- Uhas, Kim Armfield;
- Armstrong, Linlea;
- Bosanko, Katherine Armstrong;
- Babovic‐Vuksanovic, Dusica;
- Baker, Laura;
- Basel, Donald G.;
- Bengala, Mario;
- Bennett, James T.;
- Chambers, Chelsea;
- Clarkson, Lola K.;
- Clementi, Maurizio;
- Cortés, Fanny M.;
- Cunningham, Mitch
Publication type:
Article
Mutation update for the SATB2 gene.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1013, doi. 10.1002/humu.23771
By:
- Zarate, Yuri A.;
- Bosanko, Katherine A.;
- Caffrey, Aisling R.;
- Bernstein, Jonathan A.;
- Martin, Donna M.;
- Williams, Marc S.;
- Berry‐Kravis, Elizabeth M.;
- Mark, Paul R.;
- Manning, Melanie A.;
- Bhambhani, Vikas;
- Vargas, Marcelo;
- Seeley, Andrea H.;
- Estrada‐Veras, Juvianee I.;
- Dooren, Marieke F.;
- Schwab, Maria;
- Vanderver, Adeline;
- Melis, Daniela;
- Alsadah, Adnan;
- Sadler, Laurie;
- Esch, Hilde
Publication type:
Article

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