Hubshman Monika Weisz - Department of Molecular and Human Genetics, Baylor College of Medicine

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论文共 35 篇作者统计合作学者相似作者

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The Utility of Ultra-Deep RNA Sequencing in Mendelian Disorder Diagnostics

Sen Zhao,Jefferson C Sinson, Shenglan Li,Jill A Rosenfeld,Gladys Zapata, Kristina Macakova, Mezthly Pena, Becky Maywald,Kim C Worley,Lindsay Burrage,Monika Weisz Hubshman,Shamika Ketkar,William Craigen,Lisa Emrick,Undiagnosed Diseases Network, Tyson Clark,Gila Yanai Lithwick, Zohar Shipony,Christine Eng,Brendan Lee,Pengfei Liu

medRxiv the preprint server for health sciences (2025)

引用0浏览0WOS引用

P783: Identification of a Novel Variant in the MAD1L1 Gene in an Individual with Mosaic Variegated Aneuploidy Syndrome

Veronica Ortiz, Audra Iness, Haowei Du, Nichole Owen,Monika Weisz-Hubshman

Genetics in Medicine Open (2025): 103152

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De Novo Variants in RYBP Are Associated with a Severe Neurodevelopmental Disorder and Congenital Anomalies

Monika Weisz-Hubshman,Lindsay C. Burrage,Sharayu V. Jangam,Jill A. Rosenfeld,Sandra von Hardenberg, Anke Bergmann,Manuela Friederike Richter,Malgorzata Rydzanicz,Rafal Ploski,Agnieszka Stembalska,Wendy K. Chung,Rebecca R. Hernan, Foong Y. Lim,Theresa Brunet,Steffen Syrbe,Boris Keren,Solveig Heide,David R. Murdock,Hongzheng Dai,Fan Xia

Genetics in Medicinepp.101369, (2025)

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C-terminal Frameshift Variants in GPKOW Are Associated with a Multisystemic X-linked Disorder

Jung-Wan Mok,Laura Mackay, Maria Blazo,Elizabeth Mizerik,Jozef Gecz, Renee Carroll,Mathilde Nizon, Sophie Rondeau,Madeleine Joubert, Silvestre Cuinat,Wallid Deb, Fernanda Valle Sirias,Monika Weisz-Hubshman,Shamika Ketkar,Urszula Polak, Alyssa A Tran,Debra Kearney,Neil A Hanchard,Oguz Kanca,Michael F Wangler,Hugo J Bellen, Brendan H Lee, Baylor College of Medicine Center for Precision Medicine Models,Shinya Yamamoto,Keren Machol

Genetics in medicine official journal of the American College of Medical Geneticsno. 7 (2025): 101429-101429

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A Syndromic Neurodevelopmental Disorder Caused by Rare Variants in PPFIA3

Maimuna S. Paul,Sydney L. Michener,Hongling Pan, Hiuling Chan,Jessica M. Pfliger,Jill A. Rosenfeld,Vanesa C. Lerma,Alyssa Tran,Megan A. Longley,Richard A. Lewis,Monika Weisz-Hubshman,Mir Reza Bekheirnia,Nasim Bekheirnia,Lauren Massingham,Michae Zech,Matia Wagner,Hartmut Engels,Kirsten Cremer,Elisabeth Mangold,Sophia Peters,Jessica Trautmann,Jessica L. Mester,Maria J. Guillen Sacoto,Richard Person,Pamela P. Mcdonnell,Stacey R. Cohen,Laina Lusk,Ana S. A. Cohen,Jean-Baptiste Le Pichon,Tomi Pastinen,Dihong Zhou,Kendra Engleman, Carolin Racirie,Laurence Faivre,Sebastien Moutton,Anne-Sophie Denomme-Pichon,Hyun Yong Koh,Annapurna Poduri,Jeffrey Bolton,Cordula Knopp, Dong Sun Julia Suh,Andrea Maier,Mehran Beiraghi Toosi,Ehsan Ghayoor Karimiani,Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran,Pradeep Vasudevan,Chitra Prasad,Matthew Osmond,Sarah Schuhmann,Georgia Vasileiou,Sophie Russ-Hall,Ingrid E. Scheffer,Gemma L. Carvill,Heather Mefford,Carlos A. Bacino,Brendan H. Lee,Hsiao-Tuan Chao

The American Journal of Human Geneticsno. 1 (2024): 96-118

引用5浏览0WOS引用

P871: Genetic Insight, Social Impact: Transforming Care Through Sotos Syndrome Diagnosis

Dan Brooks,Elizabeth Mizerik,Liesbeth Vossaert,Seema Lalani,Monika Weisz-Hubshman,Lorraine Potocki,Laurie Robak

Genetics in Medicine Open (2024): 101785

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Variants in LRRC7 Lead to Intellectual Disability, Autism, Aggression and Abnormal Eating Behaviors

Jana Willim,Daniel Woike,Daniel Greene,Sarada Das,Kevin Pfeifer, Weimin Yuan,Anika Lindsey,Omar Itani, Amber L. Boehme,Debora Tibbe,Hans-Hinrich Hoenck,Fatemeh Hassani Nia,Monika Weisz-Hubshman,Stephen C. Pak,Michael Zech,Theresa Brunet,Laurence Faivre,Arthur Sorlin,Antonio Vitobello,Thomas Smol,Cindy Colson,Kristin Baranano,Krista Schatz,Allan Bayat,Kelly Schoch,Rebecca Spillmann,Erica E. Davis,Erin Conboy,Francesco Vetrini,Konrad Platzer,Sonja Neuser,Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell,Alexander Stegmann,Margje Sinnema,Naomi Meeks,Carol Saunders,Maxime Cadieux-Dion,Juliane Hoyer,Julien Van-Gils,Jean-Madeleine de Sainte-Agathe,Michelle L. Thompson,E. Martina Bebin,Anne-Claude Tabet,Alain Verloes,Jonathan Levy,Xenia Latypova,Soenke Harder,Gary A. Silverman,Tim Schedl,Kathleen Freson,Andrew Mumford,Ernest Turro,Christian Schlein,Vandana Shashi,Hans-Juergen Kreienkamp

NATURE COMMUNICATIONSno. 1 (2024)

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Expanding the Genetic and Phenotypic Landscape of Replication Factor C Complex-Related Disorders: RFC4 Deficiency is Linked to a Multisystemic Disorder

Marie Morimoto,Eunjin Ryu, Benjamin J. Steger,Abhijit Dixit,Yoshihiko Saito, Juyeong Yoo,Amelie T. van der Ven,Natalie Hauser,Peter J. Steinbach,Kazumasa Oura,Alden Y. Huang,Fanny Kortum,Shinsuke Ninomiya,Elisabeth A. Rosenthal, Hannah K. Robinson, Katie Guegan,Jonas Denecke, Sankarasubramoney H. Subramony,Callie J. Diamonstein,Jie Ping, Mark Fenner, Elsa Balton, Sam Strohbehn,Aimee Allworth,Michael J. Bamshad, Mahi Gandhi,Katrina M. Dipple,Elizabeth E. Blue,Gail P. Jarvik,C. Christopher Lau,Ingrid A. Holm,Monika Weisz-Hubshman,Benjamin D. Solomon,Stanley F. Nelson,Ichizo Nishino,David R. Adams,Sukhyun Kang,William A. Gahl,Camilo Toro,Kyungjae Myung,May Christine V. Malicdan

The American Journal of Human Genetics (2024)

引用1浏览0WOS引用

P297: More Than an Extra Chromosome: Unexpected Multiple Diagnoses in Individuals with Down Syndrome

Liesbeth Vossaert,Nichole Owen,Hongzheng Dai, Eric Kao,Xiaonan Zhao,Seema Lalani,Monika Weisz-Hubshman,Lorraine Potocki,Elizabeth Mizerik

Genetics in Medicine Open (2024): 101193

引用0浏览0引用

The Clinical Utility and Diagnostic Implementation of Human Subject Cell Transdifferentiation Followed by RNA Sequencing

Shenglan Li,Sen Zhao,Jefferson C. Sinson,Aleksandar Bajic,Jill A. Rosenfeld, Matthew B. Neeley, Mezthly Pena,Kim C. Worley,Lindsay C. Burrage,Monika Weisz-Hubshman,Shamika Ketkar,William J. Craigen,Gary D. Clark,Seema Lalani,Carlos A. Bacino,Keren Machol,Hsiao-Tuan Chao,Lorraine Potocki,Lisa Emrick, Jennifer Sheppard, My T. T. Nguyen, Anahita Khoramnia,Paula Patricia Hernandez,Sandesh CS. Nagamani,Zhandong Liu,Christine M. Eng,Brendan Lee,Pengfei Liu

The American Journal of Human Genetics（2024）

引用3浏览0WOS引用

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