Ingrid Cristian

Affiliations

Division of Genetics, Department of Pediatrics, Arnold Palmer Hospital, Orlando, FL, USA.

Publications (4)

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Michael D Fountain , David S Oleson , Megan E Rech , Lara Segebrecht , Jill V Hunter , John M McCarthy , Philip J Lupo , Manuel Holtgrewe , Rocio Moran , Jill A Rosenfeld , Bertrand Isidor , Cédric Le Caignec , Margarita S Saenz , Robert C Pedersen , Thomas M Morgan , Jean P Pfotenhauer , Fan Xia , Weimin Bi , Sung-Hae L Kang , Ankita Patel , Ian D Krantz , Sarah E Raible , Wendy Smith , Erin Torti , Jane Juusola , Francisca Millan , Ingrid M Wentzensen , Richard E Person , Sébastien Küry , Stéphane Bézieau , Kévin Uguen , Claude Férec , Arnold Munnich , Mieke van Haelst , Klaske D Lichtenbelt , Koen van Gassen , Tanner Hagelstrom , Aditi Chawla , Denise L Perry , Ryan J Taft , Marilyn Jones , Diane Masser-Frye , David Dyment , Sunita Venkateswaran , Chumei Li , Luis F Escobar , Denise Horn , Rebecca C Spillmann , Loren Peña , Jolanta Wierzba , Tim M Strom , Ilaria Parenti , Frank J Kaiser , Nadja Ehmke , Christian P Schaaf

Complete loss of the X-linked gene

Journal of medical genetics

Avec: Paras A Patel , Julia V Hegert , Alicia Kerr , Leslie E W LaConte , Michael A Fox , Sarika Srivastava , Konark Mukherjee

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Elisa Cali , Tania Quirin , Clarissa Rocca , Stephanie Efthymiou , Antonella Riva , Dana Marafi , Maha S Zaki , Mohnish Suri , Roberto Dominguez , Hasnaa M Elbendary , Shahryar Alavi , Mohamed S Abdel-Hamid , Heba Morsy , Frederic Tran Mau-Them , Mathilde Nizon , Pavel Tesner , Lukáš Ryba , Faisal Zafar , Nuzhat Rana , Nebal W Saadi , Zahra Firoozfar , Pinar Gencpinar , Bulent Unay , Canan Ustun , Ange-Line Bruel , Christine Coubes , Jennifer Stefanich , Ozlem Sezer , Emanuele Agolini , Antonio Novelli , Gessica Vasco , Donatella Lettori , Mathieu Milh , Laurent Villard , Shimriet Zeidler , Henry Opperman , Vincent Strehlow , Mahmoud Y Issa , Hebatallah El Khassab , Prem Chand , Shahnaz Ibrahim , Ali Nejad-Rashidi , Mohammad Miryounesi , Pegah Larki , Jennifer Morrison , Isabelle Thiffault , Nicole L Bertsch , Grace J Noh , John Pappas , Ellen Moran , Nikolaos M Marinakis , Joanne Traeger-Synodinos , Susan Hosseini , Mohammad Reza Abbaszadegan , Roseline Caumes , Lisenka E L M Vissers , Maedeh Neshatdoust , Mostafa Zohour Montazer , Elmostafa El Fahime , Christin Canavati , Lara Kamal , Moien Kanaan , Omar Askander , Victoria Voinova , Olga Levchenko , Shahzhad Haider , Sara S Halbach , Elias Rayana Maia , Salehi Mansoor , Jain Vivek , Sanjukta Tawde , Viveka Santhosh R Challa , Vykuntaraju K Gowda , Varunvenkat M Srinivasan , Lucas Alves Victor , Benito Pinero-Banos , Jennifer Hague , Heba Ahmed Ei-Awady , Adelia Maria de Miranda Henriques-Souza , Huma Arshad Cheema , Muhammad Nadeem Anjum , Sara Idkaidak , Firas Alqarajeh , Osama Atawneh , Hagar Mor-Shaked , Tamar Harel , Giovanni Zifarelli , Peter Bauer , Fernando Kok , Joao Paulo Kitajima , Fabiola Monteiro , Juliana Josahkian , Gaetan Lesca , Nicolas Chatron , Dorothe Ville , David Murphy , Jeffrey L Neul , Sureni V Mullegama , Amber Begtrup , Isabella Herman , Tadahiro Mitani , Jennifer E Posey , Chee Geap Tay , Iram Javed , Lucinda Carr , Farah Kanani , Fiona Beecroft , Lee Hane , Elsayed Abdelkreem , Milan Macek , Luciana Bispo , Marwa Abd Elmaksoud , Farzad Hashemi-Gorji , Davut Pehlivan , David J Amor , Rami Abou Jamra , Wendy K Chung , Eshan Karimiani Ghayoor , Philippe Campeau , Fowzan S Alkuraya , Alistair T Pagnamenta , Joseph Gleeson , James R Lupski , Pasquale Striano , Andres Moreno-De-Luca , Denis L J Lafontaine , Henry Houlden , Reza Maroofian

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

American journal of medical genetics. Part A

Avec: Kevin E Glinton , Anna C E Hurst , Kevin M Bowling , Devon Haynes , Dusit Adstamongkonkul , Oskar Schnappauf , David B Beck , Carole Brewer , Aditi Shah Parikh , Deepali N Shinde , Alan Donaldson , Ariel Brautbar , Saskia Koene , Arie van Haeringen , Amélie Piton , Yline Capri , Margherita Furlan , Elena Gardella , Rikke Steensbjerre Møller , Irma van de Beek , Linda Zuurbier , Phillis Lakeman , Allan Bayat , Julian Martinez , Rebecca Signer , Pernille M Torring , Morten Buch Engelund , Karen W Gripp , Louise Amlie-Wolf , Lindsay B Henderson , Alina T Midro , Eugeniusz Tarasów , Beata Stasiewicz-Jarocka , Diana Moskal-Jasinska , Paul Vos , Felix Boschann , Corinna Stoltenburg , Oliver Puk , Inger-Lise Mero , Kristine Lossius , Cyril Mignot , Boris Keren , Johanna C Acosta Guio , Ignacio Briceño , Alberto Gomez , Yaping Yang , Pawel Stankiewicz

Réseau de co-auteurs

Michael D Fountain 1 collaboration

David S Oleson 1 collaboration

Megan E Rech 1 collaboration

Lara Segebrecht 1 collaboration

Jill V Hunter 1 collaboration

John M McCarthy 1 collaboration

Philip J Lupo 1 collaboration

Manuel Holtgrewe 1 collaboration

Rocio Moran 1 collaboration

Jill A Rosenfeld 1 collaboration

Bertrand Isidor 1 collaboration

Cédric Le Caignec 1 collaboration

Margarita S Saenz 1 collaboration

Robert C Pedersen 1 collaboration

Thomas M Morgan 1 collaboration

Jean P Pfotenhauer 1 collaboration

Fan Xia 1 collaboration

Weimin Bi 1 collaboration

Sung-Hae L Kang 1 collaboration

Ankita Patel 1 collaboration

Ian D Krantz 1 collaboration

Sarah E Raible 1 collaboration

Wendy Smith 1 collaboration

Erin Torti 1 collaboration

Jane Juusola 1 collaboration

Francisca Millan 1 collaboration

Ingrid M Wentzensen 1 collaboration

Richard E Person 1 collaboration

Sébastien Küry 1 collaboration

Stéphane Bézieau 1 collaboration

Kévin Uguen 1 collaboration

Claude Férec 1 collaboration

Arnold Munnich 1 collaboration

Mieke van Haelst 1 collaboration

Klaske D Lichtenbelt 1 collaboration

Koen van Gassen 1 collaboration

Tanner Hagelstrom 1 collaboration

Aditi Chawla 1 collaboration

Denise L Perry 1 collaboration

Ryan J Taft 1 collaboration

Marilyn Jones 1 collaboration

Diane Masser-Frye 1 collaboration

David Dyment 1 collaboration

Sunita Venkateswaran 1 collaboration

Chumei Li 1 collaboration

Luis F Escobar 1 collaboration

Denise Horn 1 collaboration

Rebecca C Spillmann 1 collaboration

Loren Peña 1 collaboration

Jolanta Wierzba 1 collaboration

Tim M Strom 1 collaboration

Ilaria Parenti 1 collaboration

Frank J Kaiser 1 collaboration

Nadja Ehmke 1 collaboration

Christian P Schaaf 1 collaboration

Paras A Patel 1 collaboration

Julia V Hegert 1 collaboration

Alicia Kerr 1 collaboration

Leslie E W LaConte 1 collaboration

Michael A Fox 1 collaboration

Sarika Srivastava 1 collaboration

Konark Mukherjee 1 collaboration

Elisa Cali 1 collaboration

Tania Quirin 1 collaboration

Clarissa Rocca 1 collaboration

Stephanie Efthymiou 1 collaboration

Antonella Riva 1 collaboration

Dana Marafi 1 collaboration

Maha S Zaki 1 collaboration

Mohnish Suri 1 collaboration

Roberto Dominguez 1 collaboration

Hasnaa M Elbendary 1 collaboration

Shahryar Alavi 1 collaboration

Mohamed S Abdel-Hamid 1 collaboration

Heba Morsy 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Mathilde Nizon 1 collaboration

Pavel Tesner 1 collaboration

Lukáš Ryba 1 collaboration

Faisal Zafar 1 collaboration

Nuzhat Rana 1 collaboration

Nebal W Saadi 1 collaboration

Zahra Firoozfar 1 collaboration

Pinar Gencpinar 1 collaboration

Bulent Unay 1 collaboration

Canan Ustun 1 collaboration

Ange-Line Bruel 1 collaboration

Christine Coubes 1 collaboration

Jennifer Stefanich 1 collaboration

Ozlem Sezer 1 collaboration

Emanuele Agolini 1 collaboration

Antonio Novelli 1 collaboration

Gessica Vasco 1 collaboration

Donatella Lettori 1 collaboration

Mathieu Milh 1 collaboration

Laurent Villard 1 collaboration

Shimriet Zeidler 1 collaboration

Henry Opperman 1 collaboration

Vincent Strehlow 1 collaboration

Mahmoud Y Issa 1 collaboration

Hebatallah El Khassab 1 collaboration

Prem Chand 1 collaboration

Shahnaz Ibrahim 1 collaboration

Ali Nejad-Rashidi 1 collaboration

Mohammad Miryounesi 1 collaboration

Pegah Larki 1 collaboration

Jennifer Morrison 1 collaboration

Isabelle Thiffault 1 collaboration

Nicole L Bertsch 1 collaboration

Grace J Noh 1 collaboration

John Pappas 1 collaboration

Ellen Moran 1 collaboration

Nikolaos M Marinakis 1 collaboration

Joanne Traeger-Synodinos 1 collaboration

Susan Hosseini 1 collaboration

Mohammad Reza Abbaszadegan 1 collaboration

Roseline Caumes 1 collaboration

Lisenka E L M Vissers 1 collaboration

Maedeh Neshatdoust 1 collaboration

Mostafa Zohour Montazer 1 collaboration

Elmostafa El Fahime 1 collaboration

Christin Canavati 1 collaboration

Lara Kamal 1 collaboration

Moien Kanaan 1 collaboration

Omar Askander 1 collaboration

Victoria Voinova 1 collaboration

Olga Levchenko 1 collaboration

Shahzhad Haider 1 collaboration

Sara S Halbach 1 collaboration

Elias Rayana Maia 1 collaboration

Salehi Mansoor 1 collaboration

Jain Vivek 1 collaboration

Sanjukta Tawde 1 collaboration

Viveka Santhosh R Challa 1 collaboration

Vykuntaraju K Gowda 1 collaboration

Varunvenkat M Srinivasan 1 collaboration

Lucas Alves Victor 1 collaboration

Benito Pinero-Banos 1 collaboration

Jennifer Hague 1 collaboration

Heba Ahmed Ei-Awady 1 collaboration

Adelia Maria de Miranda Henriques-Souza 1 collaboration

Huma Arshad Cheema 1 collaboration

Muhammad Nadeem Anjum 1 collaboration

Sara Idkaidak 1 collaboration

Firas Alqarajeh 1 collaboration

Osama Atawneh 1 collaboration

Hagar Mor-Shaked 1 collaboration

Tamar Harel 1 collaboration

Giovanni Zifarelli 1 collaboration

Peter Bauer 1 collaboration

Fernando Kok 1 collaboration

Joao Paulo Kitajima 1 collaboration

Fabiola Monteiro 1 collaboration

Juliana Josahkian 1 collaboration

Gaetan Lesca 1 collaboration

Nicolas Chatron 1 collaboration

Dorothe Ville 1 collaboration

David Murphy 1 collaboration

Jeffrey L Neul 1 collaboration

Sureni V Mullegama 1 collaboration

Amber Begtrup 1 collaboration

Isabella Herman 1 collaboration

Tadahiro Mitani 1 collaboration

Jennifer E Posey 1 collaboration

Chee Geap Tay 1 collaboration

Iram Javed 1 collaboration

Lucinda Carr 1 collaboration

Farah Kanani 1 collaboration

Fiona Beecroft 1 collaboration

Lee Hane 1 collaboration

Elsayed Abdelkreem 1 collaboration

Milan Macek 1 collaboration

Luciana Bispo 1 collaboration

Marwa Abd Elmaksoud 1 collaboration

Farzad Hashemi-Gorji 1 collaboration

Davut Pehlivan 1 collaboration

David J Amor 1 collaboration

Rami Abou Jamra 1 collaboration

Wendy K Chung 1 collaboration

Eshan Karimiani Ghayoor 1 collaboration

Philippe Campeau 1 collaboration

Fowzan S Alkuraya 1 collaboration

Alistair T Pagnamenta 1 collaboration

Joseph Gleeson 1 collaboration

James R Lupski 1 collaboration

Pasquale Striano 1 collaboration

Andres Moreno-De-Luca 1 collaboration

Denis L J Lafontaine 1 collaboration

Henry Houlden 1 collaboration

Reza Maroofian 1 collaboration

Kevin E Glinton 1 collaboration

Anna C E Hurst 1 collaboration

Kevin M Bowling 1 collaboration

Devon Haynes 1 collaboration

Dusit Adstamongkonkul 1 collaboration

Oskar Schnappauf 1 collaboration

David B Beck 1 collaboration

Carole Brewer 1 collaboration

Aditi Shah Parikh 1 collaboration

Deepali N Shinde 1 collaboration

Alan Donaldson 1 collaboration

Ariel Brautbar 1 collaboration

Saskia Koene 1 collaboration

Arie van Haeringen 1 collaboration

Amélie Piton 1 collaboration

Yline Capri 1 collaboration

Margherita Furlan 1 collaboration

Elena Gardella 1 collaboration

Rikke Steensbjerre Møller 1 collaboration

Irma van de Beek 1 collaboration

Linda Zuurbier 1 collaboration

Phillis Lakeman 1 collaboration

Allan Bayat 1 collaboration

Julian Martinez 1 collaboration

Rebecca Signer 1 collaboration

Pernille M Torring 1 collaboration

Morten Buch Engelund 1 collaboration

Karen W Gripp 1 collaboration

Louise Amlie-Wolf 1 collaboration

Lindsay B Henderson 1 collaboration

Alina T Midro 1 collaboration

Eugeniusz Tarasów 1 collaboration

Beata Stasiewicz-Jarocka 1 collaboration

Diana Moskal-Jasinska 1 collaboration

Paul Vos 1 collaboration

Felix Boschann 1 collaboration

Corinna Stoltenburg 1 collaboration

Oliver Puk 1 collaboration

Inger-Lise Mero 1 collaboration

Kristine Lossius 1 collaboration

Cyril Mignot 1 collaboration

Boris Keren 1 collaboration

Johanna C Acosta Guio 1 collaboration

Ignacio Briceño 1 collaboration

Alberto Gomez 1 collaboration

Yaping Yang 1 collaboration

Pawel Stankiewicz 1 collaboration