Margaret H Harr

Affiliations
  • Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Publications (10)

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

American journal of medical genetics. Part A
Avec: Sarah E Sheppard , Ian M Campbell , Nina Gold , Dong Li , Hans T Bjornsson , Julie S Cohen , Jill A Fahrner , Ali Fatemi , Jacqueline R Harris , Catherine Nowak , Cathy A Stevens , Katheryn Grand , Margaret Au , John M Graham , Pedro A Sanchez-Lara , Miguel Del Campo , Marilyn C Jones , Omar Abdul-Rahman , Fowzan S Alkuraya , Jennifer A Bassetti , Katherine Bergstrom , Elizabeth Bhoj , Sarah Dugan , Julie D Kaplan , Nada Derar , Karen W Gripp , Natalie Hauser , A Micheil Innes , Beth Keena , Neslida Kodra , Rebecca Miller , Beverly Nelson , Malgorzata J Nowaczyk , Zuhair Rahbeeni , Shay Ben-Shachar , Joseph T Shieh , Anne Slavotinek , Andrew K Sobering , Mary-Alice Abbott , Dawn C Allain , Louise Amlie-Wolf , Ping Yee Billie Au , Emma Bedoukian , Geoffrey Beek , James Barry , Janet Berg , Jonathan A Bernstein , Cheryl Cytrynbaum , Brian Hon-Yin Chung , Sarah Donoghue , Naghmeh Dorrani , Alison Eaton , Josue A Flores-Daboub , Holly Dubbs , Carolyn A Felix , Chin-To Fong , Jasmine Lee Fong Fung , Balram Gangaram , Amy Goldstein , Rotem Greenberg , Thoa K Ha , Joseph Hersh , Kosuke Izumi , Staci Kallish , Elijah Kravets , Pui-Yan Kwok , Rebekah K Jobling , Amy E Knight Johnson , Jessica Kushner , Bo Hoon Lee , Brooke Levin , Kristin Lindstrom , Kandamurugu Manickam , Rebecca Mardach , Elizabeth McCormick , D Ross McLeod , Frank D Mentch , Kelly Minks , Colleen Muraresku , Stanley F Nelson , Patrizia Porazzi , Pavel N Pichurin , Nina N Powell-Hamilton , Zoe Powis , Alyssa Ritter , Caleb Rogers , Luis Rohena , Carey Ronspies , Audrey Schroeder , Zornitza Stark , Lois Starr , Joan Stoler , Pim Suwannarat , Milen Velinov , Rosanna Weksberg , Yael Wilnai , Neda Zadeh , Dina J Zand , Marni J Falk , Hakon Hakonarson , Elaine H Zackai , Fabiola Quintero-Rivera

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

The Journal of clinical investigation
Avec: Dong Li , Qin Wang , Allan Bayat , Mark R Battig , Yijing Zhou , Daniëlle Gm Bosch , Gijs van Haaften , Leslie Granger , Andrea K Petersen , Luis A Pérez-Jurado , Gemma Aznar-Laín , Anushree Aneja , Miroslava Hancarova , Sarka Bendova , Martin Schwarz , Radka Kremlíková Pourová , Zdenek Sedlacek , Beth A Keena , Michael E March , Cuiping Hou , Nora O'Connor , Elizabeth J Bhoj , Gabrielle Lemire , Kym M Boycott , Meghan C Towne , Megan Li , Mark Tarnopolsky , Lauren Brady , Michael J Parker , Hanna Faghfoury , Lea Kristin Parsley , Emanuele Agolini , Maria Lisa Dentici , Antonio Novelli , Meredith S Wright , Rachel Palmquist , Khanh Lai , Marcello Scala , Pasquale Striano , Michele Iacomino , Federico Zara , Annina Cooper , Timothy J Maarup , Melissa Byler , Robert Roger Lebel , Tugce B Balci , Raymond J Louie , Michael J Lyons , Jessica Douglas , Catherine B Nowak , Alexandra Afenjar , Juliane Hoyer , Boris Keren , Saskia M Maas , Mahdi M Motazacker , Julian A Martinez-Agosto , Ahna M Rabani , Elizabeth M McCormick , Marni Falk , Sarah M Ruggiero , Ingo Helbig , Rikke S Møller , Lino Tessarollo , Francesco Tomassoni-Ardori , Mary Ellen Palko , Tzung-Chien Hsieh , Peter M Krawitz , Mythily Ganapathi , Bruce D Gelb , Vaidehi Jobanputra , Ashley Wilson , John Greally , Sébastien Jacquemont , Khadijé Jizi , Bruel Ange-Line , Chloé Quelin , Vinod K Misra , Erika Chick , Corrado Romano , Donatella Greco , Alessia Arena , Manuela Morleo , Vincenzo Nigro , Rie Seyama , Yuri Uchiyama , Naomichi Matsumoto , Ryoji Taira , Katsuya Tashiro , Yasunari Sakai , Gökhan Yigit , Bernd Wollnik , Michael Wagner , Barbara Kutsche , Anna Ce Hurst , Michelle L Thompson , Ryan J Schmidt , Linda M Randolph , Rebecca C Spillmann , Vandana Shashi , Edward J Higginbotham , Dawn Cordeiro , Amanda Carnevale , Gregory Costain , Tayyaba Khan , Benoît Funalot , Frederic Tran Mau-Them , Luis Fernandez Garcia Moya , Sixto García-Miñaúr , Matthew Osmond , Lauren Chad , Nada Quercia , Diana Carrasco , Chumei Li , Amarilis Sanchez-Valle , Meghan Kelley , Mathilde Nizon , Brynjar O Jensson , Patrick Sulem , Kari Stefansson , Svetlana Gorokhova , Tiffany Busa , Marlène Rio , Hamza Hadj Abdallah , Marion Lesieur-Sebellin , Jeanne Amiel , Véronique Pingault , Sandra Mercier , Marie Vincent , Christophe Philippe , Clemence Fatus-Fauconnier , Kathryn Friend , Rebecca K Halligan , Sunita Biswas , Jane Mr Rosser , Cheryl Shoubridge , Mark A Corbett , Christopher Barnett , Jozef Gecz , Kathleen A Leppig , Anne Slavotinek , Carlo Marcelis , Rolph Pfundt , Bert Ba de Vries , Marjon A van Slegtenhorst , Alice S Brooks , Benjamin Cogne , Thomas Rambaud , Zeynep Tümer , Elaine H Zackai , Naiara Akizu , Yuanquan Song , Hakon Hakonarson

Réseau de co-auteurs

Hakon Hakonarson 6 collaborations
Dong Li 5 collaborations
Elizabeth J Bhoj 4 collaborations
Sarah E Sheppard 3 collaborations
Rolph Pfundt 3 collaborations
Emanuele Agolini 3 collaborations
Kathleen A Leppig 3 collaborations
Wendy K Chung 3 collaborations
Ellen Wright Clayton 3 collaborations
Ingrid A Holm 3 collaborations
Melanie F Myers 3 collaborations
Cynthia A Prows 3 collaborations
Georgia L Wiesner 3 collaborations
Fowzan S Alkuraya 2 collaborations
Elizabeth Bhoj 2 collaborations
Anne Slavotinek 2 collaborations
Holly Dubbs 2 collaborations
Elaine H Zackai 2 collaborations
Yijing Zhou 2 collaborations
Michelle L Thompson 2 collaborations
None None 2 collaborations
Naiara Akizu 2 collaborations
Divya Nair 2 collaborations
Hannah Erdogan 2 collaborations
Andrew Yoon 2 collaborations
Gaber Bergant 2 collaborations
Borut Peterlin 2 collaborations
Parul Jayakar 2 collaborations
Sandra Jansen 2 collaborations
Kirsty McWalter 2 collaborations
Alpa Sidhu 2 collaborations
Sheila Saliganan 2 collaborations
Arthur Jacob 2 collaborations
Jennifer Pasquier 2 collaborations
Rafii Arash 2 collaborations
Kimia Kahrizi 2 collaborations
Hossein Najmabadi 2 collaborations
Hans-Hilger Ropers 2 collaborations
Alanna Kulchak Rahm 2 collaborations
Paul Appelbaum 2 collaborations
Sharon Aufox 2 collaborations
Kurt D Christensen 2 collaborations
Robert C Green 2 collaborations
Nora Henrikson 2 collaborations
Christin Hoell 2 collaborations
Iftikhar J Kullo 2 collaborations
Gail P Jarvik 2 collaborations
Philip E Lammers 2 collaborations
Eric B Larson 2 collaborations
Noralane M Lindor 2 collaborations
Maddalena Marasa 2 collaborations
Josh F Peterson 2 collaborations
James D Ralston 2 collaborations
Hila Milo Rasouly 2 collaborations
Richard R Sharp 2 collaborations
Maureen E Smith 2 collaborations
Sara L Van Driest 2 collaborations
Marc S Williams 2 collaborations
Julia Wynn 2 collaborations
Marni Falk 2 collaborations
Elaine Zackai 2 collaborations
Michael E March 2 collaborations
Ian M Campbell 1 collaboration
Nina Gold 1 collaboration
Hans T Bjornsson 1 collaboration
Julie S Cohen 1 collaboration
Jill A Fahrner 1 collaboration
Ali Fatemi 1 collaboration
Jacqueline R Harris 1 collaboration
Catherine Nowak 1 collaboration
Cathy A Stevens 1 collaboration
Katheryn Grand 1 collaboration
Margaret Au 1 collaboration
John M Graham 1 collaboration
Pedro A Sanchez-Lara 1 collaboration
Miguel Del Campo 1 collaboration
Marilyn C Jones 1 collaboration
Omar Abdul-Rahman 1 collaboration
Jennifer A Bassetti 1 collaboration
Katherine Bergstrom 1 collaboration
Sarah Dugan 1 collaboration
Julie D Kaplan 1 collaboration
Nada Derar 1 collaboration
Karen W Gripp 1 collaboration
Natalie Hauser 1 collaboration
A Micheil Innes 1 collaboration
Beth Keena 1 collaboration
Neslida Kodra 1 collaboration
Rebecca Miller 1 collaboration
Beverly Nelson 1 collaboration
Malgorzata J Nowaczyk 1 collaboration
Zuhair Rahbeeni 1 collaboration
Shay Ben-Shachar 1 collaboration
Joseph T Shieh 1 collaboration
Andrew K Sobering 1 collaboration
Mary-Alice Abbott 1 collaboration
Dawn C Allain 1 collaboration
Louise Amlie-Wolf 1 collaboration
Ping Yee Billie Au 1 collaboration
Emma Bedoukian 1 collaboration
Geoffrey Beek 1 collaboration
James Barry 1 collaboration
Janet Berg 1 collaboration
Jonathan A Bernstein 1 collaboration
Cheryl Cytrynbaum 1 collaboration
Brian Hon-Yin Chung 1 collaboration
Sarah Donoghue 1 collaboration
Naghmeh Dorrani 1 collaboration
Alison Eaton 1 collaboration
Josue A Flores-Daboub 1 collaboration
Carolyn A Felix 1 collaboration
Chin-To Fong 1 collaboration
Jasmine Lee Fong Fung 1 collaboration
Balram Gangaram 1 collaboration
Amy Goldstein 1 collaboration
Rotem Greenberg 1 collaboration
Thoa K Ha 1 collaboration
Joseph Hersh 1 collaboration
Kosuke Izumi 1 collaboration
Staci Kallish 1 collaboration
Elijah Kravets 1 collaboration
Pui-Yan Kwok 1 collaboration
Rebekah K Jobling 1 collaboration
Amy E Knight Johnson 1 collaboration
Jessica Kushner 1 collaboration
Bo Hoon Lee 1 collaboration
Brooke Levin 1 collaboration
Kristin Lindstrom 1 collaboration
Kandamurugu Manickam 1 collaboration
Rebecca Mardach 1 collaboration
Elizabeth McCormick 1 collaboration
D Ross McLeod 1 collaboration
Frank D Mentch 1 collaboration
Kelly Minks 1 collaboration
Colleen Muraresku 1 collaboration
Stanley F Nelson 1 collaboration
Patrizia Porazzi 1 collaboration
Pavel N Pichurin 1 collaboration
Nina N Powell-Hamilton 1 collaboration
Zoe Powis 1 collaboration
Alyssa Ritter 1 collaboration
Caleb Rogers 1 collaboration
Luis Rohena 1 collaboration
Carey Ronspies 1 collaboration
Audrey Schroeder 1 collaboration
Zornitza Stark 1 collaboration
Lois Starr 1 collaboration
Joan Stoler 1 collaboration
Pim Suwannarat 1 collaboration
Milen Velinov 1 collaboration
Rosanna Weksberg 1 collaboration
Yael Wilnai 1 collaboration
Neda Zadeh 1 collaboration
Dina J Zand 1 collaboration
Marni J Falk 1 collaboration
Carolina Gracia-Diaz 1 collaboration
Qian Yang 1 collaboration
Reza Maroofian 1 collaboration
Paula Espana-Bonilla 1 collaboration
Chul-Hwan Lee 1 collaboration
Shuo Zhang 1 collaboration
Natàlia Padilla 1 collaboration
Raquel Fueyo 1 collaboration
Elisa A Waxman 1 collaboration
Sunyimeng Lei 1 collaboration
Garrett Otrimski 1 collaboration
Paul Mark 1 collaboration
Lance Rodan 1 collaboration
Adam Jackson 1 collaboration
Pradeep Vasudevan 1 collaboration
Corrina Powel 1 collaboration
Shehla Mohammed 1 collaboration
Sateesh Maddirevula 1 collaboration
Hamad Alzaidan 1 collaboration
Eissa A Faqeih 1 collaboration
Stephanie Efthymiou 1 collaboration
Valentina Turchetti 1 collaboration
Fatima Rahman 1 collaboration
Shazia Maqbool 1 collaboration
Vincenzo Salpietro 1 collaboration
Shahnaz H Ibrahim 1 collaboration
Gabriella di Rosa 1 collaboration
Henry Houlden 1 collaboration
Maha Nasser Alharbi 1 collaboration
Peter Bauer 1 collaboration
Giovanni Zifarelli 1 collaboration
Conchi Estaras 1 collaboration
Anna C E Hurst 1 collaboration
Anna Chassevent 1 collaboration
Xavier de la Cruz 1 collaboration
Alexander M Holtz 1 collaboration
Houda Zghal Elloumi 1 collaboration
M J Hajianpour 1 collaboration
Claudine Rieubland 1 collaboration
Dominique Braun 1 collaboration
Siddharth Banka 1 collaboration
Deborah L French 1 collaboration
Elizabeth A Heller 1 collaboration
Murielle Saade 1 collaboration
Hongjun Song 1 collaboration
Guo-Li Ming 1 collaboration
Pankaj B Agrawal 1 collaboration
Danny Reinberg 1 collaboration
Harris T Bland 1 collaboration
Adam Buchanan 1 collaboration
David Crosslin 1 collaboration
Josh Denny 1 collaboration
Shannon DeVange 1 collaboration
Adam Gordon 1 collaboration
Emma Perez 1 collaboration
Siddharth Pratap 1 collaboration
Dan M Roden 1 collaboration
Rajbir Singh 1 collaboration
Gabriel Shaibi 1 collaboration
Amy Sturm 1 collaboration
Heidi A Thiese 1 collaboration
Janet Williams 1 collaboration
Amy A Blumling 1 collaboration
John J Connolly 1 collaboration
John B Harley 1 collaboration
Michelle L McGowan 1 collaboration
Erin M Miller 1 collaboration
Mindy Li 1 collaboration
Jennifer Glass 1 collaboration
Xiaoli Du 1 collaboration
Margaret Horton Harr 1 collaboration
Teresa Smolarek 1 collaboration
Robert J Hopkin 1 collaboration
Qin Wang 1 collaboration
Allan Bayat 1 collaboration
Mark R Battig 1 collaboration
Daniëlle Gm Bosch 1 collaboration
Gijs van Haaften 1 collaboration
Leslie Granger 1 collaboration
Andrea K Petersen 1 collaboration
Luis A Pérez-Jurado 1 collaboration
Gemma Aznar-Laín 1 collaboration
Anushree Aneja 1 collaboration
Miroslava Hancarova 1 collaboration
Sarka Bendova 1 collaboration
Martin Schwarz 1 collaboration
Zdenek Sedlacek 1 collaboration
Beth A Keena 1 collaboration
Cuiping Hou 1 collaboration
Nora O'Connor 1 collaboration
Gabrielle Lemire 1 collaboration
Kym M Boycott 1 collaboration
Meghan C Towne 1 collaboration
Megan Li 1 collaboration
Mark Tarnopolsky 1 collaboration
Lauren Brady 1 collaboration
Michael J Parker 1 collaboration
Hanna Faghfoury 1 collaboration
Lea Kristin Parsley 1 collaboration
Maria Lisa Dentici 1 collaboration
Antonio Novelli 1 collaboration
Meredith S Wright 1 collaboration
Rachel Palmquist 1 collaboration
Khanh Lai 1 collaboration
Marcello Scala 1 collaboration
Pasquale Striano 1 collaboration
Michele Iacomino 1 collaboration
Federico Zara 1 collaboration
Annina Cooper 1 collaboration
Timothy J Maarup 1 collaboration
Melissa Byler 1 collaboration
Robert Roger Lebel 1 collaboration
Tugce B Balci 1 collaboration
Raymond J Louie 1 collaboration
Michael J Lyons 1 collaboration
Jessica Douglas 1 collaboration
Catherine B Nowak 1 collaboration
Alexandra Afenjar 1 collaboration
Juliane Hoyer 1 collaboration
Boris Keren 1 collaboration
Saskia M Maas 1 collaboration
Mahdi M Motazacker 1 collaboration
Ahna M Rabani 1 collaboration
Elizabeth M McCormick 1 collaboration
Sarah M Ruggiero 1 collaboration
Ingo Helbig 1 collaboration
Rikke S Møller 1 collaboration
Lino Tessarollo 1 collaboration
Mary Ellen Palko 1 collaboration
Tzung-Chien Hsieh 1 collaboration
Peter M Krawitz 1 collaboration
Mythily Ganapathi 1 collaboration
Bruce D Gelb 1 collaboration
Vaidehi Jobanputra 1 collaboration
Ashley Wilson 1 collaboration
John Greally 1 collaboration
Sébastien Jacquemont 1 collaboration
Khadijé Jizi 1 collaboration
Bruel Ange-Line 1 collaboration
Chloé Quelin 1 collaboration
Vinod K Misra 1 collaboration
Erika Chick 1 collaboration
Corrado Romano 1 collaboration
Donatella Greco 1 collaboration
Alessia Arena 1 collaboration
Manuela Morleo 1 collaboration
Vincenzo Nigro 1 collaboration
Rie Seyama 1 collaboration
Yuri Uchiyama 1 collaboration
Naomichi Matsumoto 1 collaboration
Ryoji Taira 1 collaboration
Katsuya Tashiro 1 collaboration
Yasunari Sakai 1 collaboration
Gökhan Yigit 1 collaboration
Bernd Wollnik 1 collaboration
Michael Wagner 1 collaboration
Barbara Kutsche 1 collaboration
Anna Ce Hurst 1 collaboration
Ryan J Schmidt 1 collaboration
Linda M Randolph 1 collaboration
Rebecca C Spillmann 1 collaboration
Vandana Shashi 1 collaboration
Edward J Higginbotham 1 collaboration
Dawn Cordeiro 1 collaboration
Amanda Carnevale 1 collaboration
Gregory Costain 1 collaboration
Tayyaba Khan 1 collaboration
Benoît Funalot 1 collaboration
Frederic Tran Mau-Them 1 collaboration
Sixto García-Miñaúr 1 collaboration
Matthew Osmond 1 collaboration
Lauren Chad 1 collaboration
Nada Quercia 1 collaboration
Diana Carrasco 1 collaboration
Chumei Li 1 collaboration
Amarilis Sanchez-Valle 1 collaboration
Meghan Kelley 1 collaboration
Mathilde Nizon 1 collaboration
Brynjar O Jensson 1 collaboration
Patrick Sulem 1 collaboration
Kari Stefansson 1 collaboration
Svetlana Gorokhova 1 collaboration
Tiffany Busa 1 collaboration
Marlène Rio 1 collaboration
Hamza Hadj Abdallah 1 collaboration
Jeanne Amiel 1 collaboration
Véronique Pingault 1 collaboration
Sandra Mercier 1 collaboration
Marie Vincent 1 collaboration
Christophe Philippe 1 collaboration
Kathryn Friend 1 collaboration
Rebecca K Halligan 1 collaboration
Sunita Biswas 1 collaboration
Jane Mr Rosser 1 collaboration
Cheryl Shoubridge 1 collaboration
Mark A Corbett 1 collaboration
Christopher Barnett 1 collaboration
Jozef Gecz 1 collaboration
Carlo Marcelis 1 collaboration
Bert Ba de Vries 1 collaboration
Alice S Brooks 1 collaboration
Benjamin Cogne 1 collaboration
Thomas Rambaud 1 collaboration
Zeynep Tümer 1 collaboration
Yuanquan Song 1 collaboration
Amir Hossein Saeidian 1 collaboration
Leila Youssefian 1 collaboration
Deborah J Watson 1 collaboration
Esha Bhandari 1 collaboration
Xiang Wang 1 collaboration
Xiaonan Zhao 1 collaboration
Nichole Marie Owen 1 collaboration
Alanna Strong 1 collaboration
Hassan Vahidnezhad 1 collaboration
Johann Gudjonsson 1 collaboration
Stephen D Cederbaum 1 collaboration
Joshua L Deignan 1 collaboration
Joseph Glessner 1 collaboration
Wayne W Grody 1 collaboration
Sarah T Bland 1 collaboration
Carrie L Blout 1 collaboration
Janet L Williams 1 collaboration