Mari Tokita - Department of Molecular and Human Genetics, Baylor College of Medicine

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论文共 45 篇作者统计合作学者相似作者

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P339: Whole Genome Sequencing Identifies Biallelic Variants in Newly Described EMC10-related Neurodevelopmental Disorder Not Detected by Prior Genetic Testing

Jerica Lenberg,Kristen Wigby,Jennifer Friedman,Mari Tokita, Alaina Heinen, Soofia Khan

Genetics in Medicine Open (2024): 101233

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Case Report: Deep Sequencing and Long-Read Genome Sequencing Refine Prior Genetic Analyses in Families with Apparent Gonadal Mosaicism in PIK3CD-related Activated PI3K Delta Syndrome

Halyn Orellana,Jia Yan, Alex Paul,Mari Tokita,Yan Ding, Rajarshi Ghosh,Katie L. Lewis,Joie Davis,Leila Jamal,Colleen Jodarski,Morgan Similuk,Nermina Saucier,Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, Helen C. Su,Gulbu Uzel,Shareef Nahas,Megan Cooper,Magdalena A. Walkiewicz

FRONTIERS IN IMMUNOLOGY (2024)

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P610: Identification of Trinucleotide Repeat Expansions in DMPK Using Rapid Whole Genome Sequencing

Lucia Guidugli,Monia Hammer, Bryant Cao,Joseph Shen, Daniel Rito, Claire Botsford,David Chitayat,Jerica Lenberg,Kristen Wigby,Kelly Watkins,Stephen Kingsmore,Mari Tokita

Genetics in Medicine Open (2024): 101516

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P584: Dual Diagnosis of Maple Syrup Urine Disease 1B and 6q14.1 Deletion in an Individual with Neurodevelopmental and Metabolic Phenotypes

Xin (David) Wang, Kelly Kirsten,Meredith Wright,Olivia Kim-McManus,Sophia Ceulemans,Annette Feigenbaum,Hannah Tsai,Jerica Lenberg, Paula Gray, Deepali Shinde,Lucia Guidugli,Mari Tokita

Genetics in medicine openno. 1 (2023): 100631-100631

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Response to Grosse Et Al

Stephen F Kingsmore,Laurie D Smith,Chris M Kunard,Matthew Bainbridge,Sergey Batalov,Wendy Benson, Eric Blincow,Sara Caylor,Christina Chambers,Guillermo Del Angel,David P Dimmock,Yan Ding,Katarzyna Ellsworth,Annette Feigenbaum,Erwin Frise,Robert C Green,Lucia Guidugli,Kevin P Hall,Christian Hansen,Charlotte A Hobbs, Scott D Kahn,Mark Kiel, Lucita Van Der Kraan, Chad Krilow,Yong H Kwon, Lakshminarasimha Madhavrao,Jennie Le,Sebastien Lefebvre,Rebecca Mardach, William R Mowrey, Danny Oh,Mallory J Owen, George Powley,Gunter Scharer, Seth Shelnutt,Mari Tokita, Shyamal S Mehtalia,Albert Oriol,Stavros Papadopoulos, James Perry,Edwin Rosales,Erica Sanford,Steve Schwartz, Duke Tran,Martin G Reese,Meredith Wright,Narayanan Veeraraghavan,Kristen Wigby,Mary J Willis,Aaron R Wolen,Thomas Defay

American journal of human geneticsno. 6 (2023): 1017-1017

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A Genome Sequencing System for Universal Newborn Screening, Diagnosis, and Precision Medicine for Severe Genetic Diseases

Stephen F. Kingsmore,Laurie D. Smith,Chris M. Kunard,Matthew Bainbridge,Sergey Batalov,Wendy Benson, Eric Blincow,Sara Caylor,Christina Chambers,Guillermo Del Angel,David P. Dimmock,Yan Ding,Katarzyna Ellsworth,Annette Feigenbaum,Erwin Frise,Robert C. Green,Lucia Guidugli,Kevin P. Hall,Christian Hansen,Charlotte A. Hobbs, Scott D. Kahn,Mark Kiel, Lucita Van Der Kraan, Chad Krilow,Yong H. Kwon, Lakshminarasimha Madhavrao,Jennie Le,Sebastien Lefebvre,Rebecca Mardach, William R. Mowrey, Danny Oh,Mallory J. Owen, George Powley,Gunter Scharer, Seth Shelnutt,Mari Tokita, Shyamal S. Mehtalia,Albert Oriol,Stavros Papadopoulos,James Perry,Edwin Rosales,Erica Sanford,Steve Schwartz, Duke Tran,Martin G. Reese,Meredith Wright,Narayanan Veeraraghavan,Kristen Wigby,Mary J. Willis,Aaron R. Wolen,Thomas Defay

American journal of human genetics（2022）

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Consolidation of the Clinical and Genetic Definition of a SOX4-related Neurodevelopmental Syndrome

Journal of medical genetics（2022）

引用7浏览0WOS引用

Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation

Hye Sun Kuehn,Nicholas J. Gloude,David Dimmock,Mari Tokita,Meredith Wright,Sergio D. Rosenzweig,Cathleen Collins

Journal of clinical immunology（2021）

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De Novo Coding Variants in the AGO1 Gene Cause a Neurodevelopmental Disorder with Intellectual Disability

Audrey Schalk,Margot A. Cousin,Thomas D. Challman,Karen E. Wain,Zoe Powis,Kelly Minks,Aurelien Trimouille,Eulalie Lasseaux,Didier Lacombre,Chloe Angelini,Vincent Michaud,Julien Van-Gils,Nino Spataro,Anna Ruiz,Elizabeth Gabau,Elliot Stolerman,Camerun Washington,Raymond J. Louie,Brendan C. Lanpher,Jennifer L. Kemppainen,A. Micheil Innes,R. Frank Kooy,Marije Meuwissen,Alice Goldenberg,Francois Lecoquierre,Gabriella Vera,Karin E. M. Diderich,Beth Rosen Sheidley,Christelle Moufawad El Achkar,Meredith Park,Fadi F. Hamdan,Jacques L. Michaud,Ann J. Lewis,Christiane Zweier,Andre Reis,Matias Wagner,Heike Weigand,Hubert Journel,Boris Keren,Sandrine Passemard,Cyril Mignot,Koen L. van Gassen,Eva H. Brilstra,Gina Itzikowitz,Emily O'Heir,Jake Allen,Kirsten A. Donald,Bruce R. Korf,Tammi Skelton,Michelle L. Thompson,Nathaniel H. Robin,Natasha Rudy,William B. Dobyns,Kimberly Foss,Yuri A. Zarate,Katherine A. Bosanko,Yves Alembik,Benjamin Durand,Frederic Tran Mau-them,Emmanuelle Ranza,Xavier Blanc,Stylianos E. Antonarakis,Kirsty McWalter,Erin Torti,Francisca Millan,Amy Dameron,Mari J. Tokita,Michael T. Zimmermann,Eric W. Klee,Amelie Piton,Benedicte Gerard

Journal of medical genetics（2021）

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