Erin Torti - Northwestern University

Erfan Aref-Eshghi, Katherine J. Anderson, Lauren Boulay, Kathleen Brown, Jessica Duis, Christine A. Giummo, Jessica Ogawa, Deanna Alexis Carere, Elizabeth A. Normand, Yaping Qian,Kirsty McWalter,Erin Torti

HGG advancespp.100384-100384, (2024)

引用0浏览0WOS引用

Biallelic PRMT7 Pathogenic Variants Are Associated with a Recognizable Syndromic Neurodevelopmental Disorder with Short Stature, Obesity, and Craniofacial and Digital Abnormalities

Elisa Cali,Mohnish Suri,Marcello Scala,Matteo P. Ferla,Shahryar Alavi,Eissa Ali Faqeih,Emilia K. Bijlsma,Kristen M. Wigby,Diana Baralle,Mohammad Y. Mehrjardi,Jennifer Schwab,Konrad Platzer,Katharina Steindl,Mais Hashem,Marilyn Jones,Dmitriy M. Niyazov,Jennifer Jacober,Rebecca Okashah Littlejohn,Denisa Weis,Neda Zadeh,Lance Rodan,Alice Goldenberg,Francois Lecoquierre,Marina Dutra-Clarke, Gabriella Horvath, Dana Young,Naama Orenstein, Shahad Bawazeer,Anneke T. Vulto-van Silfhout,Yvan Herenger,Mohammadreza Dehghani,Seyed Mohammad Seyedhassani,Amir Bahreini, Mahya E. Nasab,A. Gulhan Ercan-Sencicek,Zahra Firoozfar,Mojtaba Movahedinia,Stephanie Efthymiou,Pasquale Striano,Ehsan Ghayoor Karimiani,Vincenzo Salpietro,Jenny C. Taylor,Melody Redman,Alexander P. A. Stegmann,Andreas Laner,Ghada Abdel-Salam,Megan Li,Mario Bengala, Amelie Johanna Muller, Maria C. Digilio,Anita Rauch, Murat Gunel,Hannah Titheradge, Daniela N. Schweitzer,Alison Kraus,Irene Valenzuela,Scott D. McLean,Chanika Phornphutkul,Mustafa Salih, Amber Begtrup,Rhonda E. Schnur,Erin Torti,Tobias B. Haack, Carlos E. Prada,Fowzan S. Alkuraya,Henry Houlden,Reza Maroofian

Genetics in medicine（2023）

引用1浏览0WOS引用

Rare Pathogenic Variants in WNK3 Cause X-linked Intellectual Disability

Sebastien Kury,Jinwei Zhang,Thomas Besnard,Alfonso Caro-Llopis,Xue Zeng,Stephanie M. Robert,Sunday S. Josiah,Emre Kiziltug,Anne-Sophie Denomme-Pichon,Benjamin Cogne,Adam J. Kundishora,Le T. Hao,Hong Li,Roger E. Stevenson,Raymond J. Louie,Wallid Deb,Erin Torti,Virginie Vignard,Kirsty McWalter,F. Lucy Raymond,Farrah Rajabi,Emmanuelle Ranza,Detelina Grozeva,Stephanie A. Coury,Xavier Blanc,Elise Brischoux-Boucher,Boris Keren,Katrin Ounap,Karit Reinson,Pilvi Ilves,Ingrid M. Wentzensen,Eileen E. Barr, Solveig Heide Guihard,Perrine Charles,Eleanor G. Seaby,Kristin G. Monaghan,Marlene Rio,Yolande van Bever,Marjon van Slegtenhorst,Wendy K. Chung,Ashley Wilson,Delphine Quinquis,Flora Breheret,Kyle Retterer,Pierre Lindenbaum,Emmanuel Scalais,Lindsay Rhodes,Katrien Stouffs,Elaine M. Pereira,Sara M. Berger,Sarah S. Milla,Ankita B. Jaykumar,Melanie H. Cobb,Shreyas Panchagnula,Phan Q. Duy,Marie Vincent,Sandra Mercier,Brigitte Gilbert-Dussardier,Xavier Le Guillou,Severine Audebert-Bellanger,Sylvie Odent,Sebastien Schmitt,Pierre Boisseau,Dominique Bonneau,Annick Toutain,Estelle Colin,Laurent Pasquier,Richard Redon,Arjan Bouman,Jill A. Rosenfeld,Michael J. Friez,Helena Perez-Pena, Syed Raza Akhtar Rizvi,Shozeb Haider,Stylianos E. Antonarakis,Charles E. Schwartz,Francisco Martinez,Stephane Bezieau,Kristopher T. Kahle,Bertrand Isidor

Genetics in medicine（2022）

引用4浏览0WOS引用

Functional and Clinical Studies Reveal Pathophysiological Complexity of CLCN4-related Neurodevelopmental Condition

Elizabeth E. Palmer,Michael Pusch,Alessandra Picollo, Caitlin Forwood,Matthew H. Nguyen,Vanessa Suckow, Jessica Gibbons,Alva Hoff,Lisa Sigfrid,Andre Megarbane,Mathilde Nizon,Benjamin Cogné,Claire Beneteau,Fowzan S. Alkuraya,Aziza Chedrawi,Mais O. Hashem,Hannah Stamberger,Sarah Weckhuysen,Arnaud Vanlander,Berten Ceulemans,Sulekha Rajagopalan,Kenneth Nunn,Stéphanie Arpin,Martine Raynaud,Constance S. Motter,Catherine Ward-Melver,Katrien Janssens,Marije Meuwissen,Diane Beysen,Nicola Dikow,Mona Grimmel,Tobias B. Haack,Emma Clement,Amy McTague,David Hunt,Sharron Townshend,Michelle Ward,Linda J. Richards,Cas Simons,Gregory Costain,Lucie Dupuis,Roberto Mendoza-Londono,Tracy Dudding-Byth,Jackie Boyle,Carol Saunders,Emily Fleming,Salima El Chehadeh,Marie-Aude Spitz,Amelie Piton,Bénédicte Gerard,Marie-Thérèse Abi Warde,Gillian Rea,Caoimhe McKenna,Sofia Douzgou,Siddharth Banka,Cigdem Akman,Jennifer M. Bain,Tristan T. Sands,Golder N. Wilson, Erin J. Silvertooth, Lauren Miller,Damien Lederer,Rani Sachdev,Rebecca Macintosh,Olivier Monestier,Deniz Karadurmus,Felicity Collins,Melissa Carter,Luis Rohena,Marjolein H. Willemsen,Charlotte W. Ockeloen,Rolph Pfundt,Sanne D. Kroft,Michael Field,Francisco E. R. Laranjeira,Ana M. Fortuna,Ana R. Soares,Vincent Michaud,Sophie Naudion,Sailaja Golla,David D. Weaver,Lynne M. Bird,Jennifer Friedman,Virginia Clowes,Shelagh Joss,Laura Pölsler,Philippe M. Campeau,Maria Blazo,Emilia K. Bijlsma,Jill A. Rosenfeld, Christian Beetz,Zöe Powis,Kirsty McWalter,Tracy Brandt,Erin Torti, Mikaël Mathot,Shekeeb S. Mohammad,Ruth Armstrong,Vera M. Kalscheuer

Molecular psychiatryno. 2 (2022): 668-697

引用19浏览0WOSNATURE引用

De novo variants in the lysinedemethylase PHF2 are associated with developmental delay, autistic behavior, and facial dysmorphism

Alexej Knaus, Miriam Wojcik, Miriam Viktor,Katheryn Grand,Pedro A. Sanchez-Lara,Tzung-Chien Hsieh,Gaber Bergant,Wendy K. Chung,Alexa Geltzeiler,Erin Torti,Peter M. Krawitz

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

引用0浏览0引用

Neurodevelopmental and Epilepsy Phenotypes in Individuals with Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Hannah C Happ,Lynette G Sadleir,Matthew Zemel,Guillem de Valles-Ibáñez,Michael S Hildebrand,Allyn McConkie-Rosell,Marie McDonald,Halie May,Tristan Sands,Vimla Aggarwal,Christopher Elder,Timothy Feyma,Allan Bayat,Rikke S Møller,Christina D Fenger,Jens Erik Klint Nielsen,Anita N Datta, Kathleen M Gorman,Mary D King,Natalia D Linhares,Barbara K Burton,Andrea Paras,Sian Ellard,Julia Rankin,Anju Shukla,Purvi Majethia,Rory J Olson,Karthik Muthusamy,Lisa A Schimmenti,Keith Starnes,Lucie Sedláčková,Katalin Štěrbová,Markéta Vlčková,Petra Laššuthová,Alena Jahodová,Brenda E Porter,Nathalie Couque,Estelle Colin,Clément Prouteau,Corinne Collet,Thomas Smol,Roseline Caumes,Fleur Vansenne,Francesca Bisulli,Laura Licchetta,Richard Person,Erin Torti,Kirsty McWalter,Richard Webster,Elizabeth E Gerard,Gaetan Lesca,Pierre Szepetowski,Ingrid E Scheffer,Heather C Mefford,Gemma L Carvill

Neurology（2022）

引用2浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn