Jill Anne Mokry

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Jill A. Rosenfeld Mokry is a certified genetic counselor with extensive experience researching what genome-wide testing can teach us about human disease. She will also be involved with running the Undiagnosed Diseases Network (UDN) research study at Baylor College of Medicine. This clinical study aims to improve the process of medical diagnosis and identify new human diseases.

Research Interests

Papers共 482 篇Author StatisticsCo-AuthorSimilar Experts

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Microduplications of ARID1A and ARID1B Cause a Novel Clinical and Epigenetic Distinct BAFopathy

GENETICS IN MEDICINE（2025）

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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)

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Clinical Validation of RNA Sequencing for Mendelian Disorder Diagnostics

Sen Zhao, Kristina Macakova,Jefferson C Sinson,Hongzheng Dai,Jill Rosenfeld,Gladys E Zapata, Shenglan Li,Patricia A Ward,Christiana Wang,Chunjing Qu, Becky Maywald,Undiagnosed Diseases Network,Brendan Lee,Christine Eng,Pengfei Liu

American journal of human geneticsno. 4 (2025): 779-792

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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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Androgen Receptor Ubiquitination Links KCTD13 to Genitourinary Tract Defects

Ahmed Chahdi,Carolina Jorgez,Jill A Rosenfeld, Neetu,Abhishek Seth

FASEB journal official publication of the Federation of American Societies for Experimental Biologyno. 4 (2025): e70406-e70406

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11: to Remap or Not to Remap: the Relevance of the Genome References to Resolve Rare Inversions

Claudia M.B. Carvalho, Kristine Bilgrav Saether,Jesse Bengtsson, Jesper Eisfeldt,Ming Yin Lun,Jakob Schuy,Medhat Mahmoud,Christopher M. Grochowski,Davut Pehlivan,Fritz J. Sedlazeck,Jill A. Rosenfeld,Pengfei Liu,Weimin Bi,Ronit Marom,Anna Lindstrand

Genetics in Medicine Open (2025): 101928

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Uncovering Phenotypic Expansion in AXIN2-Related Disorders Using Precision Animal Modeling

Nathalie M Aceves-Ewing,Denise G Lanza,Paul C Marcogliese,Di Lu,Chih-Wei Hsu, Matthew Gonzalez,Audrey E Christiansen,Tara L Rasmussen, Alex J Ho,Angelina Gaspero,John Seavitt,Mary E Dickinson,Bo Yuan,Brian J Shayota, Stephanie Pachter, Xiaolin Hu,Debra Lynn Day-Salvatore,Laura Mackay,Oguz Kanca,Michael F Wangler,Lorraine Potocki,Jill A Rosenfeld, Richard Alan Lewis,Hsiao-Tuan Chao,Brendan Lee,Sukyeong Lee,Undiagnosed Diseases Network, Baylor College of Medicine Center for Precision Medicine Models,Shinya Yamamoto,Hugo J Bellen,Lindsay C Burrage,Jason D Heaney

medRxiv the preprint server for health sciences (2025)

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MAJIQ-CLIN: A Novel Tool for the Identification of Mendelian Disease-Causing Variants from RNA-Seq Data

Joseph K Aicher,Dina Issakova,Barry Slaff,San Jewell,Nicholas F Lahens,Gregory R Grant,Diana Baralle,Jill A Rosenfeld,Daryl A Scott,Undiagnosed Diseases Network, Elizabeth J Bhoj,Yoseph Barash

medRxiv the preprint server for health sciences (2025)

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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

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Exome Sequencing Implicates Ancestry-Related Mendelian Variation at SYNE1 in Childhood-Onset Essential Hypertension

Ian Copeland,Edmond Wonkam-Tingang,Monesha Gupta-Malhotra,S. Shahrukh Hashmi, Yixing Han,Aarti Jajoo,Nancy J. Hall, Paula P. Hernandez, Natasha Lie, Dan Liu, Jun Xu,Jill Rosenfeld, Aparna Haldipur, Zelene Desire,Zeynep H. Coban-Akdemir,Daryl A. Scott,Qing Li,Hsiao-Tuan Chao, Ana M. Zaske,James R. Lupski,Dianna M. Milewicz,Sanjay Shete,Jennifer E. Posey,Neil A. Hanchard

JCI Insightno. 9 (2024)

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Associate Professor

Papers共 482 篇Author StatisticsCo-AuthorSimilar Experts