Pawel Stankiewicz

Affiliations

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 604B, Houston, TX, 77030-3498, USA.

Publications (19)

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

American journal of human genetics

Avec: Justyna A Karolak , Marie Vincent , Gail Deutsch , Tomasz Gambin , Benjamin Cogné , Olivier Pichon , Francesco Vetrini , Heather C Mefford , Jennifer N Dines , Katie Golden-Grant , Katrina Dipple , Amanda S Freed , Kathleen A Leppig , Megan Dishop , David Mowat , Bruce Bennetts , Andrew J Gifford , Martin A Weber , Anna F Lee , Cornelius F Boerkoel , Tina M Bartell , Catherine Ward-Melver , Thomas Besnard , Florence Petit , Iben Bache , Zeynep Tümer , Marie Denis-Musquer , Madeleine Joubert , Jelena Martinovic , Claire Bénéteau , Arnaud Molin , Dominique Carles , Gwenaelle André , Eric Bieth , Nicolas Chassaing , Louise Devisme , Lara Chalabreysse , Laurent Pasquier , Véronique Secq , Massimiliano Don , Maria Orsaria , Chantal Missirian , Jérémie Mortreux , Damien Sanlaville , Linda Pons , Sébastien Küry , Stéphane Bézieau , Jean-Michel Liet , Nicolas Joram , Tiphaine Bihouée , Daryl A Scott , Chester W Brown , Fernando Scaglia , Anne Chun-Hui Tsai , Dorothy K Grange , John A Phillips , Jean P Pfotenhauer , Shalini N Jhangiani , Claudia G Gonzaga-Jauregui , Wendy K Chung , Galen M Schauer , Mark H Lipson , Catherine L Mercer , Arie van Haeringen , Qian Liu , Edwina Popek , Zeynep H Coban Akdemir , James R Lupski , Przemyslaw Szafranski , Bertrand Isidor , Cedric Le Caignec , Paweł Stankiewicz

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.

Genome medicine

Avec: Claudia M B Carvalho , Zeynep Coban-Akdemir , Hadia Hijazi , Bo Yuan , Matthew Pendleton , Eoghan Harrington , John Beaulaurier , Sissel Juul , Daniel J Turner , Rupa S Kanchi , Shalini N Jhangiani , Donna M Muzny , Richard A Gibbs , Auteur inconnu , Pawel Stankiewicz , John W Belmont , Chad A Shaw , Sau Wai Cheung , Neil A Hanchard , V Reid Sutton , Patricia I Bader , James R Lupski

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.

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

Avec: Tomasz Gambin , Qian Liu , Justyna A Karolak , Christopher M Grochowski , Nina G Xie , Lucia R Wu , Yan Helen Yan , Ye Cao , Zeynep H Coban Akdemir , Theresa A Wilson , Shalini N Jhangiani , Ed Chen , Christine M Eng , Donna Muzny , Jennifer E Posey , Yaping Yang , David Y Zhang , Chad Shaw , Pengfei Liu , James R Lupski , Paweł Stankiewicz

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

The Journal of molecular diagnostics : JMD

Avec: Justyna A Karolak , Qian Liu , Nina G Xie , Lucia R Wu , Gustavo Rocha , Susana Fernandes , Luk Ho-Ming , Ivan F Lo , David Mowat , Elizabeth K Fiorino , Morris Edelman , Joyce Fox , Denise A Hayes , David Witte , Ashley Parrott , Edwina Popek , Przemyslaw Szafranski , David Y Zhang , Pawel Stankiewicz

Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq.

Respiratory research

Avec: Justyna A Karolak , Tomasz Gambin , Przemyslaw Szafranski , Paweł Stankiewicz

Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?

European journal of medical genetics

Avec: Esra Yıldız Bölükbaşı , Justyna A Karolak , Tomasz Gambin , Przemyslaw Szafranski , Gail H Deutsch , Paweł Stankiewicz

Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.

European journal of human genetics : EJHG

Avec: Esra Yıldız Bölükbaşı , Justyna A Karolak , Przemyslaw Szafranski , Tomasz Gambin , Admire Matsika , Sam McManus , Hamish S Scott , Peer Arts , Thuong Ha , Christopher P Barnett , Jonathan Rodgers , Paweł Stankiewicz

The effects of mindfulness-based training in virtual reality on psychotic symptoms, mood and cognitive functioning - a pilot study.

Psychiatria polska

Avec: Iga Plencler , Dawid Kruk , Artur Daren , Przemysław Stankiewicz , Agnieszka Nowak , Stanisław Radoń , Adrian Chrobak , Andrzej Cechnicki , Marcin Siwek

Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia.

Pediatric pulmonology

Avec: Csaba Galambos , J Wells Logan , Pawel Stankiewicz , Przemyslaw Szafranski , Carola Zalles , Jose Gonzales , Sfurti Nath , Shalinkumar Patel , Steven H Abman

Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia.

Clinical epigenetics

Avec: Przemyslaw Szafranski , Rijutha P Garimella , Haresh Mani , Ryan Hartman , Gail Deutsch , Alan Silk , Alan Benheim , Paweł Stankiewicz

Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development.

Journal of medical genetics

Avec: Laurie A Steiner , Michael Getman , Gillian M Schiralli Lester , M Anwar Iqbal , Philip Katzman , Przemyslaw Szafranski , Pawel Stankiewicz , Soumyaroop Bhattacharya , Thomas Mariani , Gloria Pryhuber , Xin Lin , Jennifer L Young , David A Dean , Kristin Scheible

Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe.

Advances in medical sciences

Avec: Joanna Swierkowska , Justyna A Karolak , Tomasz Gambin , Malgorzata Rydzanicz , Agata Frajdenberg , Malgorzata Mrugacz , Monika Podfigurna-Musielak , Pawel Stankiewicz , James R Lupski , Marzena Gajecka

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.

American journal of medical genetics. Part A

Avec: Esra Yıldız Bölükbaşı , Justyna A Karolak , Przemyslaw Szafranski , Tomasz Gambin , Omer Murik , David A Zeevi , Gheona Altarescu , Paweł Stankiewicz

Revised time estimation of the ancestral human chromosome 2 fusion.

BMC genomics

Avec: Barbara Poszewiecka , Krzysztof Gogolewski , Paweł Stankiewicz , Anna Gambin

Diminished

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Avec: Przemyslaw Szafranski , Silvia Patrizi , Tomasz Gambin , Bushra Afzal , Emily Schlotterbeck , Justyna A Karolak , Gail Deutsch , Drucilla Roberts , Paweł Stankiewicz

Epilepsy as a Novel Phenotype of BPTF-Related Disorders.

Pediatric neurology

Avec: Alessandro Ferretti , Margherita Furlan , Kevin E Glinton , Christina D Fenger , Felix Boschann , Louise Amlie-Wolf , Shimriet Zeidler , Raffaella Moretti , Corinna Stoltenburg , Daniel C Tarquinio , Francesca Furia , Pasquale Parisi , Guido Rubboli , Orrin Devinsky , Cyril Mignot , Karen W Gripp , Rikke S Møller , Yaping Yang , Pawel Stankiewicz , Elena Gardella

Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids.

Molecular psychiatry

Avec: Dorit Trudler , Swagata Ghatak , Michael Bula , James Parker , Maria Talantova , Melissa Luevanos , Sergio Labra , Titas Grabauskas , Sarah Moore Noveral , Mayu Teranaka , Emily Schahrer , Nima Dolatabadi , Clare Bakker , Kevin Lopez , Abdullah Sultan , Parth Patel , Agnes Chan , Yongwook Choi , Riki Kawaguchi , Pawel Stankiewicz , Ivan Garcia-Bassets , Piotr Kozbial , Michael G Rosenfeld , Nobuki Nakanishi , Daniel H Geschwind , Shing Fai Chan , Wei Lin , Nicholas J Schork , Rajesh Ambasudhan , Stuart A Lipton

Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR.

Human mutation

Avec: Przemyslaw Szafranski , Tomasz Gambin , Justyna A Karolak , Edwina Popek , Paweł Stankiewicz

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Nature communications

Avec: Hui Guo , Elisa Bettella , Paul C Marcogliese , Rongjuan Zhao , Jonathan C Andrews , Tomasz J Nowakowski , Madelyn A Gillentine , Kendra Hoekzema , Tianyun Wang , Huidan Wu , Sharayu Jangam , Cenying Liu , Hailun Ni , Marjolein H Willemsen , Bregje W van Bon , Tuula Rinne , Servi J C Stevens , Tjitske Kleefstra , Han G Brunner , Helger G Yntema , Min Long , Wenjing Zhao , Zhengmao Hu , Cindy Colson , Nicolas Richard , Charles E Schwartz , Corrado Romano , Lucia Castiglia , Maria Bottitta , Shweta U Dhar , Deanna J Erwin , Lisa Emrick , Boris Keren , Alexandra Afenjar , Baosheng Zhu , Bing Bai , Pawel Stankiewicz , Kristin Herman , Auteur inconnu , Saadet Mercimek-Andrews , Jane Juusola , Amy B Wilfert , Rami Abou Jamra , Benjamin Büttner , Heather C Mefford , Alison M Muir , Ingrid E Scheffer , Brigid M Regan , Stephen Malone , Jozef Gecz , Jan Cobben , Marjan M Weiss , Quinten Waisfisz , Emilia K Bijlsma , Mariëtte J V Hoffer , Claudia A L Ruivenkamp , Stefano Sartori , Fan Xia , Jill A Rosenfeld , Raphael A Bernier , Michael F Wangler , Shinya Yamamoto , Kun Xia , Alexander P A Stegmann , Hugo J Bellen , Alessandra Murgia , Evan E Eichler

Réseau de co-auteurs

Przemyslaw Szafranski 11 collaborations

Justyna A Karolak 10 collaborations

Paweł Stankiewicz 10 collaborations

Tomasz Gambin 9 collaborations

James R Lupski 4 collaborations

Gail Deutsch 3 collaborations

Shalini N Jhangiani 3 collaborations

Qian Liu 3 collaborations

Edwina Popek 3 collaborations

Esra Yıldız Bölükbaşı 3 collaborations

Heather C Mefford 2 collaborations

David Mowat 2 collaborations

Zeynep H Coban Akdemir 2 collaborations

None None 2 collaborations

Nina G Xie 2 collaborations

Lucia R Wu 2 collaborations

Yaping Yang 2 collaborations

David Y Zhang 2 collaborations

Marie Vincent 1 collaboration

Benjamin Cogné 1 collaboration

Olivier Pichon 1 collaboration

Francesco Vetrini 1 collaboration

Jennifer N Dines 1 collaboration

Katie Golden-Grant 1 collaboration

Katrina Dipple 1 collaboration

Amanda S Freed 1 collaboration

Kathleen A Leppig 1 collaboration

Megan Dishop 1 collaboration

Bruce Bennetts 1 collaboration

Andrew J Gifford 1 collaboration

Martin A Weber 1 collaboration

Anna F Lee 1 collaboration

Cornelius F Boerkoel 1 collaboration

Tina M Bartell 1 collaboration

Catherine Ward-Melver 1 collaboration

Thomas Besnard 1 collaboration

Florence Petit 1 collaboration

Iben Bache 1 collaboration

Zeynep Tümer 1 collaboration

Marie Denis-Musquer 1 collaboration

Madeleine Joubert 1 collaboration

Jelena Martinovic 1 collaboration

Claire Bénéteau 1 collaboration

Arnaud Molin 1 collaboration

Dominique Carles 1 collaboration

Gwenaelle André 1 collaboration

Eric Bieth 1 collaboration

Nicolas Chassaing 1 collaboration

Louise Devisme 1 collaboration

Lara Chalabreysse 1 collaboration

Laurent Pasquier 1 collaboration

Véronique Secq 1 collaboration

Massimiliano Don 1 collaboration

Maria Orsaria 1 collaboration

Chantal Missirian 1 collaboration

Jérémie Mortreux 1 collaboration

Damien Sanlaville 1 collaboration

Linda Pons 1 collaboration

Sébastien Küry 1 collaboration

Stéphane Bézieau 1 collaboration

Jean-Michel Liet 1 collaboration

Nicolas Joram 1 collaboration

Tiphaine Bihouée 1 collaboration

Daryl A Scott 1 collaboration

Chester W Brown 1 collaboration

Fernando Scaglia 1 collaboration

Anne Chun-Hui Tsai 1 collaboration

Dorothy K Grange 1 collaboration

John A Phillips 1 collaboration

Jean P Pfotenhauer 1 collaboration

Claudia G Gonzaga-Jauregui 1 collaboration

Wendy K Chung 1 collaboration

Galen M Schauer 1 collaboration

Mark H Lipson 1 collaboration

Catherine L Mercer 1 collaboration

Arie van Haeringen 1 collaboration

Bertrand Isidor 1 collaboration

Cedric Le Caignec 1 collaboration

Claudia M B Carvalho 1 collaboration

Zeynep Coban-Akdemir 1 collaboration

Hadia Hijazi 1 collaboration

Bo Yuan 1 collaboration

Matthew Pendleton 1 collaboration

Eoghan Harrington 1 collaboration

John Beaulaurier 1 collaboration

Sissel Juul 1 collaboration

Daniel J Turner 1 collaboration

Rupa S Kanchi 1 collaboration

Donna M Muzny 1 collaboration

Richard A Gibbs 1 collaboration

John W Belmont 1 collaboration

Chad A Shaw 1 collaboration

Sau Wai Cheung 1 collaboration

Neil A Hanchard 1 collaboration

V Reid Sutton 1 collaboration

Patricia I Bader 1 collaboration

Christopher M Grochowski 1 collaboration

Yan Helen Yan 1 collaboration

Ye Cao 1 collaboration

Theresa A Wilson 1 collaboration

Ed Chen 1 collaboration

Christine M Eng 1 collaboration

Donna Muzny 1 collaboration

Jennifer E Posey 1 collaboration

Chad Shaw 1 collaboration

Pengfei Liu 1 collaboration

Gustavo Rocha 1 collaboration

Susana Fernandes 1 collaboration

Luk Ho-Ming 1 collaboration

Ivan F Lo 1 collaboration

Elizabeth K Fiorino 1 collaboration

Morris Edelman 1 collaboration

Joyce Fox 1 collaboration

Denise A Hayes 1 collaboration

David Witte 1 collaboration

Ashley Parrott 1 collaboration

Gail H Deutsch 1 collaboration

Admire Matsika 1 collaboration

Sam McManus 1 collaboration

Hamish S Scott 1 collaboration

Peer Arts 1 collaboration

Thuong Ha 1 collaboration

Christopher P Barnett 1 collaboration

Jonathan Rodgers 1 collaboration

Iga Plencler 1 collaboration

Dawid Kruk 1 collaboration

Artur Daren 1 collaboration

Przemysław Stankiewicz 1 collaboration

Agnieszka Nowak 1 collaboration

Stanisław Radoń 1 collaboration

Adrian Chrobak 1 collaboration

Andrzej Cechnicki 1 collaboration

Marcin Siwek 1 collaboration

Csaba Galambos 1 collaboration

J Wells Logan 1 collaboration

Carola Zalles 1 collaboration

Jose Gonzales 1 collaboration

Sfurti Nath 1 collaboration

Shalinkumar Patel 1 collaboration

Steven H Abman 1 collaboration

Rijutha P Garimella 1 collaboration

Haresh Mani 1 collaboration

Ryan Hartman 1 collaboration

Alan Silk 1 collaboration

Alan Benheim 1 collaboration

Laurie A Steiner 1 collaboration

Michael Getman 1 collaboration

Gillian M Schiralli Lester 1 collaboration

M Anwar Iqbal 1 collaboration

Philip Katzman 1 collaboration

Soumyaroop Bhattacharya 1 collaboration

Thomas Mariani 1 collaboration

Gloria Pryhuber 1 collaboration

Xin Lin 1 collaboration

Jennifer L Young 1 collaboration

David A Dean 1 collaboration

Kristin Scheible 1 collaboration

Joanna Swierkowska 1 collaboration

Malgorzata Rydzanicz 1 collaboration

Agata Frajdenberg 1 collaboration

Malgorzata Mrugacz 1 collaboration

Monika Podfigurna-Musielak 1 collaboration

Marzena Gajecka 1 collaboration

Omer Murik 1 collaboration

David A Zeevi 1 collaboration

Gheona Altarescu 1 collaboration

Barbara Poszewiecka 1 collaboration

Krzysztof Gogolewski 1 collaboration

Anna Gambin 1 collaboration

Silvia Patrizi 1 collaboration

Bushra Afzal 1 collaboration

Emily Schlotterbeck 1 collaboration

Drucilla Roberts 1 collaboration

Alessandro Ferretti 1 collaboration

Margherita Furlan 1 collaboration

Kevin E Glinton 1 collaboration

Christina D Fenger 1 collaboration

Felix Boschann 1 collaboration

Louise Amlie-Wolf 1 collaboration

Shimriet Zeidler 1 collaboration

Raffaella Moretti 1 collaboration

Corinna Stoltenburg 1 collaboration

Daniel C Tarquinio 1 collaboration

Francesca Furia 1 collaboration

Pasquale Parisi 1 collaboration

Guido Rubboli 1 collaboration

Orrin Devinsky 1 collaboration

Cyril Mignot 1 collaboration

Karen W Gripp 1 collaboration

Rikke S Møller 1 collaboration

Elena Gardella 1 collaboration

Dorit Trudler 1 collaboration

Swagata Ghatak 1 collaboration

Michael Bula 1 collaboration

James Parker 1 collaboration

Maria Talantova 1 collaboration

Melissa Luevanos 1 collaboration

Sergio Labra 1 collaboration

Titas Grabauskas 1 collaboration

Sarah Moore Noveral 1 collaboration

Mayu Teranaka 1 collaboration

Emily Schahrer 1 collaboration

Nima Dolatabadi 1 collaboration

Clare Bakker 1 collaboration

Kevin Lopez 1 collaboration

Abdullah Sultan 1 collaboration

Parth Patel 1 collaboration

Agnes Chan 1 collaboration

Yongwook Choi 1 collaboration

Riki Kawaguchi 1 collaboration

Ivan Garcia-Bassets 1 collaboration

Piotr Kozbial 1 collaboration

Michael G Rosenfeld 1 collaboration

Nobuki Nakanishi 1 collaboration

Daniel H Geschwind 1 collaboration

Shing Fai Chan 1 collaboration

Wei Lin 1 collaboration

Nicholas J Schork 1 collaboration

Rajesh Ambasudhan 1 collaboration

Stuart A Lipton 1 collaboration

Hui Guo 1 collaboration

Elisa Bettella 1 collaboration

Paul C Marcogliese 1 collaboration

Rongjuan Zhao 1 collaboration

Jonathan C Andrews 1 collaboration

Tomasz J Nowakowski 1 collaboration

Madelyn A Gillentine 1 collaboration

Kendra Hoekzema 1 collaboration

Tianyun Wang 1 collaboration

Huidan Wu 1 collaboration

Sharayu Jangam 1 collaboration

Cenying Liu 1 collaboration

Hailun Ni 1 collaboration

Marjolein H Willemsen 1 collaboration

Bregje W van Bon 1 collaboration

Tuula Rinne 1 collaboration

Servi J C Stevens 1 collaboration

Tjitske Kleefstra 1 collaboration

Han G Brunner 1 collaboration

Helger G Yntema 1 collaboration

Min Long 1 collaboration

Wenjing Zhao 1 collaboration

Zhengmao Hu 1 collaboration

Cindy Colson 1 collaboration

Nicolas Richard 1 collaboration

Charles E Schwartz 1 collaboration

Corrado Romano 1 collaboration

Lucia Castiglia 1 collaboration

Maria Bottitta 1 collaboration

Shweta U Dhar 1 collaboration

Deanna J Erwin 1 collaboration

Lisa Emrick 1 collaboration

Boris Keren 1 collaboration

Alexandra Afenjar 1 collaboration

Baosheng Zhu 1 collaboration

Bing Bai 1 collaboration

Kristin Herman 1 collaboration

Saadet Mercimek-Andrews 1 collaboration

Jane Juusola 1 collaboration

Amy B Wilfert 1 collaboration

Rami Abou Jamra 1 collaboration

Benjamin Büttner 1 collaboration

Alison M Muir 1 collaboration

Ingrid E Scheffer 1 collaboration

Brigid M Regan 1 collaboration

Stephen Malone 1 collaboration

Jozef Gecz 1 collaboration

Jan Cobben 1 collaboration

Marjan M Weiss 1 collaboration

Quinten Waisfisz 1 collaboration

Emilia K Bijlsma 1 collaboration

Mariëtte J V Hoffer 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Stefano Sartori 1 collaboration

Fan Xia 1 collaboration

Jill A Rosenfeld 1 collaboration

Raphael A Bernier 1 collaboration

Michael F Wangler 1 collaboration

Shinya Yamamoto 1 collaboration

Kun Xia 1 collaboration

Alexander P A Stegmann 1 collaboration

Hugo J Bellen 1 collaboration

Alessandra Murgia 1 collaboration

Evan E Eichler 1 collaboration