Pamela P McDonnell - Childrens Hosp Philadelphia, Epilepsy NeuroGenet Initiat ENGIN

基本信息

Career Trajectory

Bio

No content for now

Research Interests

Papers共 3 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选

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)

Cited0Views0WOSBibtex

A Syndromic Neurodevelopmental Disorder Caused by Rare Variants in PPFIA3 (vol 111, Pg 96, 2024)

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, Michael Zech, Matias Wagner,Hartmut Engels,Kirsten Cremer,Elisabeth Mangold,Sophia Peters,Jessica Trautmann,Claudia Perne,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,Caroline Racine,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,Benito Banos-Pinero,Alistair T. Pagnamenta,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. 6 (2024): 1239-1239

Cited0Views0Bibtex

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

medRxiv : the preprint server for health sciences (2023)

Cited1Views0WOSBibtex

Author Statistics

Co-Author

Co-Institution

D-Core

合作者
学生
导师

No result temporarily, you can search similar Scholar with the same research interest

Data Disclaimer

The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn