Lorraine Potocki

Leszek Potocki 9 collaborations

James R Lupski 6 collaborations

Jill A Rosenfeld 5 collaborations

Bernadetta Oklejewicz 3 collaborations

Ewa Szpyrka 3 collaborations

Andrea M Lewis 3 collaborations

Keren Machol 3 collaborations

Lisa Emrick 3 collaborations

Jennifer E Posey 3 collaborations

None None 3 collaborations

Marcello Scala 3 collaborations

Federico Zara 3 collaborations

Alfredo Brusco 3 collaborations

Rolph Pfundt 3 collaborations

Claudia M B Carvalho 3 collaborations

Chaofan Zhang 3 collaborations

Ewelina Kuna 3 collaborations

Anna Lewinska 3 collaborations

Maciej Wnuk 3 collaborations

Daryl A Scott 3 collaborations

Aleksandra Baran 2 collaborations

Magdalena Podbielska 2 collaborations

Yaping Yang 2 collaborations

Kirsty McWalter 2 collaborations

Aleksandra Kwiatkowska 2 collaborations

Caroline McCool 2 collaborations

Laurence Faivre 2 collaborations

Amanda Gerard 2 collaborations

Wendy K Chung 2 collaborations

Sissy Bassani 2 collaborations

Jacqueline Chrast 2 collaborations

Giovanna Ambrosini 2 collaborations

Norine Voisin 2 collaborations

Frédéric Schütz 2 collaborations

Fabio Sirchia 2 collaborations

Lydia Turban 2 collaborations

Susanna Schubert 2 collaborations

Rami Abou Jamra 2 collaborations

Jan-Ulrich Schlump 2 collaborations

Desiree DeMille 2 collaborations

Pinar Bayrak-Toydemir 2 collaborations

Gary Rex Nelson 2 collaborations

Kristen Nicole Wong 2 collaborations

Laura Duncan 2 collaborations

Mackenzie Mosera 2 collaborations

Christian Gilissen 2 collaborations

Lisenka E L M Vissers 2 collaborations

Rogier Kersseboom 2 collaborations

Hilde Yttervik 2 collaborations

Geir Åsmund Myge Hansen 2 collaborations

Marie Falkenberg Smeland 2 collaborations

Kameryn M Butler 2 collaborations

Michael J Lyons 2 collaborations

Leticia Flores-Gallegos 2 collaborations

Rodrigo Morales-Toquero 2 collaborations

Florence Petit 2 collaborations

Binnaz Yalcin 2 collaborations

Annabelle Tuttle 2 collaborations

Houda Zghal Elloumi 2 collaborations

Mary Kukolich 2 collaborations

Oliver Klaas 2 collaborations

Judit Horvath 2 collaborations

Michele Iacomino 2 collaborations

Francesca Operto 2 collaborations

Karin Writzl 2 collaborations

Maria K Haanpää 2 collaborations

Pia Pohjola 2 collaborations

Harri Arikka 2 collaborations

Christian Iseli 2 collaborations

Nicolas Guex 2 collaborations

Alexandre Reymond 2 collaborations

Elizabeth Mizerik 2 collaborations

Sarah H Elsea 2 collaborations

Zeynep Coban-Akdemir 2 collaborations

Pengfei Liu 2 collaborations

Shamika Ketkar 2 collaborations

Carlos A Bacino 2 collaborations

Brendan Lee 2 collaborations

Lindsay C Burrage 2 collaborations

Viera Schwarzbacherová 1 collaboration

Elisa Rahikkala 1 collaboration

Matti Myllykoski 1 collaboration

Reetta Hinttala 1 collaboration

Päivi Vieira 1 collaboration

Naemeh Nayebzadeh 1 collaboration

Simone Weiss 1 collaboration

Astrid S Plomp 1 collaboration

Reginald E Bittner 1 collaboration

Mitja I Kurki 1 collaboration

Outi Kuismin 1 collaboration

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Jonne Westermann 1 collaboration

Günther Bernert 1 collaboration

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Xia Wang 1 collaboration

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Kezhi Yan 1 collaboration

Justine Rousseau 1 collaboration

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Anne Goverde 1 collaboration

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Dihong Zhou 1 collaboration

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Gary A Bellus 1 collaboration

Monisa D Wagner 1 collaboration

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Natacha Esber 1 collaboration

Alan F Riley 1 collaboration

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Roy Eyal 1 collaboration

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Hillary M Porter 1 collaboration

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Bert Callewaert 1 collaboration

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Anna Górka 1 collaboration

Magdalena Slowik-Borowiec 1 collaboration

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Kevin Kaplan 1 collaboration

Daniel Glaze 1 collaboration

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Jaya Punetha 1 collaboration

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Paul J Benke 1 collaboration

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Michael Ciliberto 1 collaboration

Julie S Cohen 1 collaboration

Anne M Comi 1 collaboration

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Mary Beth Fasano 1 collaboration

Alice Fiévet 1 collaboration

Richard S Finkel 1 collaboration

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Paulino Gomez-Puertas 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Trevor L Hoffman 1 collaboration

Lillian Howard 1 collaboration

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Kosuke Izumi 1 collaboration

Austin Larson 1 collaboration

Anja Leiber 1 collaboration

Reymundo Lozano 1 collaboration

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Cassie S Mintz 1 collaboration

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Rikke S Møller 1 collaboration

Sylvie Odent 1 collaboration

Henry Oppermann 1 collaboration

Elsebet Ostergaard 1 collaboration

Marta Pacio-Míguez 1 collaboration

Maria Palomares-Bralo 1 collaboration

Sumit Parikh 1 collaboration

Anna M Paulson 1 collaboration

Konrad Platzer 1 collaboration

Anya Revah-Politi 1 collaboration

Marlene Rio 1 collaboration

Alyssa L Ritter 1 collaboration

Scott Robinson 1 collaboration

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Mathys Wéber 1 collaboration

Yili Xie 1 collaboration

Natasha J Brown 1 collaboration

Zeynep Tümer 1 collaboration

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Taewoo Yang 1 collaboration

Christine Insinna 1 collaboration

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David Bell 1 collaboration

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Marcello Niceta 1 collaboration

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Taekyeong Yoo 1 collaboration

Jimmy Stauffer 1 collaboration

Huijie Zhao 1 collaboration

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Marina Pedemonte 1 collaboration

Maria C Diana 1 collaboration

Simona Baldassari 1 collaboration

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Anna Shcherbina 1 collaboration

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Laura Sønderberg Roos 1 collaboration

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Artur Dobosz 1 collaboration

Seema R Lalani 1 collaboration

Tiana M Scott 1 collaboration

Daryl Scott 1 collaboration

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Raymond Louie 1 collaboration

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Simone Pizzi 1 collaboration

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Erin Cooney 1 collaboration

Jenny Do 1 collaboration

Anders Linnemann 1 collaboration

Martin J Larsen 1 collaboration

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Valeria Capra 1 collaboration

Sung-Gyoo Park 1 collaboration

Christopher J Westlake 1 collaboration

Lane McCormick 1 collaboration

Aleš Maver 1 collaboration

Anneke J A Kievit 1 collaboration

Camilla Calandrini 1 collaboration

Hyoungjun Ham 1 collaboration

Huie Jing 1 collaboration

Ian T Lamborn 1 collaboration

Megan M Kober 1 collaboration

Alexey Koval 1 collaboration

Yamina A Berchiche 1 collaboration

D Eric Anderson 1 collaboration

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Judith N Mandl 1 collaboration

Bertrand Isidor 1 collaboration

Carlos R Ferreira 1 collaboration

Alexandra F Freeman 1 collaboration

Sundar Ganesan 1 collaboration

Meliha Karsak 1 collaboration

Peter J Mustillo 1 collaboration

Juliana Teo 1 collaboration

Zarazuela Zolkipli-Cunningham 1 collaboration

Nicolas Chatron 1 collaboration

François Lecoquierre 1 collaboration

Andrew J Oler 1 collaboration

Jana Pachlopnik Schmid 1 collaboration

Douglas B Kuhns 1 collaboration

Xuehua Xu 1 collaboration

Fabian Hauck 1 collaboration

Waleed Al-Herz 1 collaboration

Matias Wagner 1 collaboration

Paulien A Terhal 1 collaboration

Mari Muurinen 1 collaboration

Vincent Barlogis 1 collaboration

Phillip Cruz 1 collaboration

Jeffrey Danielson 1 collaboration

Helen Stewart 1 collaboration

Petra Loid 1 collaboration

Sebastian Rading 1 collaboration

Boris Keren 1 collaboration

Kol A Zarember 1 collaboration

Katharina Vill 1 collaboration

Kenneth N Olivier 1 collaboration

Gaetan Lesca 1 collaboration

Melanie Wong 1 collaboration

Anne Puel 1 collaboration

Janet Chou 1 collaboration

Maud Tusseau 1 collaboration

Niki M Moutsopoulos 1 collaboration

Helen F Matthews 1 collaboration

Cas Simons 1 collaboration

Ryan J Taft 1 collaboration

Ariane Soldatos 1 collaboration

Etienne Masle-Farquhar 1 collaboration

Stefania Pittaluga 1 collaboration

Robert Brink 1 collaboration

Danielle L Fink 1 collaboration

Heidi H Kong 1 collaboration

Juraj Kabat 1 collaboration

Woo Sung Kim 1 collaboration

Tatjana Bierhals 1 collaboration

Kazuyuki Meguro 1 collaboration

Amy P Hsu 1 collaboration

Jingwen Gu 1 collaboration

Jennifer Stoddard 1 collaboration

Benito Banos-Pinero 1 collaboration

Maria Slack 1 collaboration

Giampaolo Trivellin 1 collaboration

Benoît Mazel 1 collaboration

Maarja Soomann 1 collaboration

Samuel Li 1 collaboration

Val J Watts 1 collaboration

Constantine A Stratakis 1 collaboration

Maria F Rodriguez-Quevedo 1 collaboration

Ange-Line Bruel 1 collaboration

Marita Lipsanen-Nyman 1 collaboration

Paul Saultier 1 collaboration

Rashmi Jain 1 collaboration

Daphne Lehalle 1 collaboration

Daniel Torres 1 collaboration

Kathleen E Sullivan 1 collaboration

Sébastien Barbarot 1 collaboration

Axel Neu 1 collaboration

Yannis Duffourd 1 collaboration

Morgan Similuk 1 collaboration

Pierre Blanc 1 collaboration

Stéphane Bézieau 1 collaboration

Tian Jin 1 collaboration

Raif S Geha 1 collaboration

Jean-Laurent Casanova 1 collaboration

Outi M Makitie 1 collaboration

Christian Kubisch 1 collaboration

Patrick Edery 1 collaboration

John Christodoulou 1 collaboration

Ronald N Germain 1 collaboration

Christopher C Goodnow 1 collaboration

Thomas P Sakmar 1 collaboration

Daniel D Billadeau 1 collaboration

Sébastien Küry 1 collaboration

Vladimir L Katanaev 1 collaboration

Yu Zhang 1 collaboration

Michael J Lenardo 1 collaboration

Helen C Su 1 collaboration

Alberto Varon 1 collaboration

Zachary Whitt 1 collaboration

Paige M Kalika 1 collaboration

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Katherina Walz 1 collaboration

Kamila Filip 1 collaboration

Beata Kasprzyk 1 collaboration

Rebecca Markovitz 1 collaboration

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William Hong 1 collaboration

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Saunder Bernes 1 collaboration

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Carsten Bonnemann 1 collaboration

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Weimin Bi 1 collaboration

Timothy Lotze 1 collaboration

Anthony Antonellis 1 collaboration

Rui Xiao 1 collaboration

John Odom 1 collaboration

Hitha Amin 1 collaboration

Charul Gijavanekar 1 collaboration

Stephen Kralik 1 collaboration

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Yuezhen Lin 1 collaboration

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Bonnie McCann-Crosby 1 collaboration

Kevin A Kaplan 1 collaboration

Elizabeth Thomas 1 collaboration

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Joanna Depciuch 1 collaboration

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Jagoda Adamczyk-Grochala 1 collaboration

Idalia Kasprzyk 1 collaboration

Klaudia Pawlina-Tyszko 1 collaboration

Kevin E Glinton 1 collaboration

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Laura Palmer Mackay 1 collaboration

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Eleonora Di Gregorio 1 collaboration

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Andres Hernandez-Garcia 1 collaboration

Magdalena Duda 1 collaboration

Janusz Zuczek 1 collaboration

Scott D Wissman 1 collaboration

Ewa Elenberg 1 collaboration

Angad Jolly 1 collaboration

Brian J Shayota 1 collaboration

Juliana F Mazzeu 1 collaboration

Haowei Du 1 collaboration

Moez Dawood 1 collaboration

Patricia Celestino Soper 1 collaboration

Ariadne Ramalho de Lima 1 collaboration

Bárbara Merfort Ferreira 1 collaboration

Janson White 1 collaboration

Deborah Shears 1 collaboration

Fraser Robert Thomson 1 collaboration

Sarah Louise Douglas 1 collaboration

Andrew Wainwright 1 collaboration

Kathryn Bailey 1 collaboration

Paul Wordsworth 1 collaboration

Mike Oldridge 1 collaboration

Tracy Lester 1 collaboration

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Katja Dumic 1 collaboration

Siddharth Banka 1 collaboration

Dian Donnai 1 collaboration

Shalini N Jhangiani 1 collaboration

Sara Mora 1 collaboration

Hope Northrup 1 collaboration

Myla Ashfaq 1 collaboration

Kati Mason 1 collaboration

Lynda C Pollack 1 collaboration

Allyn McConkie-Rosell 1 collaboration

Wei Kelly 1 collaboration

Marie McDonald 1 collaboration

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Peter Leahy 1 collaboration

Cynthia M Powell 1 collaboration

Raquel Boy 1 collaboration

Rachel Sayuri Honjo 1 collaboration

Fernando Kok 1 collaboration

Lucia R Martelli 1 collaboration

Vicente Odone Filho 1 collaboration

None Genomics England Research Consortium 1 collaboration

Donna M Muzny 1 collaboration

Richard A Gibbs 1 collaboration

V Reid Sutton 1 collaboration

Ashanta Merriweather 1 collaboration

David R Murdock 1 collaboration

Hongzheng Dai 1 collaboration

Sarah Nicholas 1 collaboration

Richard A Lewis 1 collaboration

Vernon Reid Sutton 1 collaboration

Monica Penon-Portmann 1 collaboration

Mohammad K Eldomery 1 collaboration

Dana Marafi 1 collaboration

Tamar Harel 1 collaboration

Christopher M Grochowski 1 collaboration

Hailey Loucks 1 collaboration

Walter Patrick Devine 1 collaboration

Jessica Van Ziffle 1 collaboration

Dan Doherty 1 collaboration

Joseph T Shieh 1 collaboration

Natalia Żurek 1 collaboration

Karolina Pycia 1 collaboration

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Ireneusz Tomasz Kapusta 1 collaboration

Shenglan Li 1 collaboration

Sen Zhao 1 collaboration

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Aleksandar Bajic 1 collaboration

Matthew B Neeley 1 collaboration

Mezthly Pena 1 collaboration

Kim C Worley 1 collaboration

Monika Weisz-Hubshman 1 collaboration

William J Craigen 1 collaboration

Gary D Clark 1 collaboration

Seema Lalani 1 collaboration

Hsiao-Tuan Chao 1 collaboration

Jennifer Sheppard 1 collaboration

My T T Nguyen 1 collaboration

Anahita Khoramnia 1 collaboration

Paula Patricia Hernandez 1 collaboration

Sandesh Cs Nagamani 1 collaboration

Zhandong Liu 1 collaboration

Christine M Eng 1 collaboration

Affiliations

Publications (31)

Synthetic Pesticides Used in Agricultural Production Promote Genetic Instability and Metabolic Variability in

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).

Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.

Long-Term Adaption to High Osmotic Stress as a Tool for Improving Enological Characteristics in Industrial Wine Yeast.

Objective measures of sleep disturbances in children with Potocki-Lupski syndrome.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Germline mutations in a G protein identify signaling cross-talk in T cells.

Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.

Activation of transposable elements and genetic instability during long-term culture of the human fungal pathogen Candida albicans.

GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.

Variant-specific pathophysiological mechanisms of

Antibiotics and Bacterial Resistance-A Short Story of an Endless Arms Race.

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.

Management of Sleep Disturbances Associated with Smith-Magenis Syndrome.

Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability.

FTIR and Raman Spectroscopy-Based Biochemical Profiling Reflects Genomic Diversity of Clinical

Silver birch pollen-derived microRNAs promote NF-κB-mediated inflammation in human lung cells.

An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes.

The dynamics of pyrethroid residues and Cyp P450 gene expression in insects depends on the circadian clock.

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.

Application of Green Algal

Hypertension in Potocki-Shaffer syndrome: A case report.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.

Chemical Profiling, Bioactive Properties, and Anticancer and Antimicrobial Potential of

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.

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