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

Pleuntje J. van der Sluijs,Sebastien Moutton, Alexander J. M. Dingemans,Denisa Weis,Michael A. Levy,Kym M. Boycott,Claudia Arberas,Margherita Baldassarri,Claire Beneteau, Alfredo Brusco,Charles Coutton,Tabib Dabir, Maria L. Dentici,Koenraad Devriendt,Laurence Faivre, Mieke M. van Haelst,Khadije Jizi, Marlies J. Kempers,Jennifer Kerkhof,Mira Kharbanda,Katherine Lachlan,Nathalie Marle,Haley Mcconkey,Maria A. Mencarelli,David. Mowat, Marcello Niceta,Claire Nicolas,Antonio Novelli, Valeria Orlando,Olivier Pichon,Julia Rankin,Raissa. Relator, Fabienne G. Ropers,Jill A. Rosenfeld, Rani Sachdev, Sarah A. Sandaradura, Elena Shukarova-Angelovska, Duco Steenbeek, Marco Tartaglia, Matthew A. Tedder, Slavica Trajkova,Norbert Winer,Jeremy Woods, Bert B. A. de Vries,Bekim Sadikovic,Marielle Alders,Gijs W. E. Santen

GENETICS IN MEDICINE（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

AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024)

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Molecular and Phenotypic Characterization of the RORB-Related Disorder

Zeynep Gokce-Samar,Annalisa Vetro,Julitta De Bellescize,Tiziana Pisano,Laloe Monteiro, Noemie Penaud,Christian M. Korff,Joel Fluss,Carla Marini,Elisabetta Cesaroni,Blanca Mercedes Alvarez,Damien Sanlaville,Nicolas Chatron, Alexis A. Arzimanoglou,Audrey Labalme, Vishnu A. Cuddapah,Sarah M. Ruggiero,Francois Lecoquierre,Gael Nicolas,Guerrot Anne Marie,Axel Lebas,Herve O. Testard,Katherine L. Helbig,Anna Ruiz,Adeline Ngoh,Manju A. Kurian,Kimberley Reid,Robert Spaull,Pascal Joset,Georgia Ramantani,Katharina Steindl,Martin Krenn,Lucia Gerstl,Silvia Vieker,Dana Craiu,Manuela Pendziwiat,Chad Haldeman-Englert,Ilya Kanivets, Irina Romanova,Deepa S. Rajan,Jill A. Rosenfeld,Margaret Au,Katheryn Grand,John M. Graham Jr,Arnaud Isapof,Nathalie Villeneuve,Thomas Smol,Roseline Caumes,Pia Zacher,Sonja Neuser, Sigrid Tinschert,Konrad Platzer,Tobias Bartolomaeus, Ines Mohnke,Maximilian Radtke,Rami Abou Jamra,Ingo Helbig, Floortje E. Jansen, Klaas Koop,Gabrielle Rudolf,Sebastien Kury,Julien Courchet,Renzo Guerrini,Gaetan Lesca

NEUROLOGY（2024）

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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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Recessive Loss-of-function Variants in DPH1 Identified As the Molecular Cause in a Sibling Pair Previously Diagnosed with Fine-Lubinsky Syndrome

Emily R. Waskow,Lisa T. Emrick,Jill A. Rosenfeld,Shamika Ketkar,Lindsay C. Burrage,Daryl A. Scott

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2024)

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P750: Clinical Validation of Transcriptome Analysis for the Diagnosis of Mendelian Disorders

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

Genetics in Medicine Open (2024): 101654

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Burden Re-Analysis of Neurodevelopmental Disorder Cohorts for Prioritization of Candidate Genes

Noor Smal,Fatma Majdoub,Katrien Janssens,Edwin Reyniers,Marije E. C. Meuwissen,Berten Ceulemans,Hope Northrup, Jeremy B. Hill, Lingying Liu,Edoardo Errichiello,Simone Gana,Alanna Strong,Luis Rohena,Rachel Franciskovich,Chaya N. Murali, An Huybrechs, Telma Sulem,Run Fridriksdottir,Patrick Sulem,Kari Stefansson, Yan Bai,Jill A. Rosenfeld,Seema R. Lalani,Haley Streff,R. Frank Kooy,Sarah Weckhuysen

EUROPEAN JOURNAL OF HUMAN GENETICSno. 11 (2024): 1378-1386

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Clinical Exome Sequencing Uncovers Genetic Disorders in Neonates with Suspected Hypoxic-Ischemic Encephalopathy: A Retrospective Analysis

Christian M. Parobek,Roni Zemet,Matthew A. Shanahan,Brian A. Burnett,Elizabeth Mizerik,Jill A. Rosenfeld,Liesbeth Vossaert,Steven L. Clark,Jill V. Hunter,Seema R. Lalani

Clinical Geneticsno. 1 (2024): 95-101

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Clinical validation of RNA sequencing for Mendelian disorder diagnostics

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

medrxiv（2024）

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Associate Professor

Papers共 482 篇Author StatisticsCo-AuthorSimilar Experts