Daniel Groepper

Affiliations

Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, Illinois, 62702, USA.

Publications (9)

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

American journal of medical genetics. Part A

Avec: Ilana Chilton , Volkan Okur , Giuseppina Vitiello , Angelo Selicorni , Milena Mariani , Alice Goldenberg , Thomas Husson , Dominique Campion , Klaske D Lichtenbelt , Koen van Gassen , Michelle Steinraths , Jennifer Rice , Elizabeth R Roeder , Rebecca O Littlejohn , Myriam Srour , Guillaume Sebire , Andrea Accogli , Delphine Héron , Solveig Heide , Caroline Nava , Christel Depienne , Austin Larson , Dmitriy Niyazov , Meron Azage , George Hoganson , Jennifer Burton , Eric T Rush , Janda L Jenkins , Carol J Saunders , Isabelle Thiffault , Joseph T Alaimo , Julie Fleischer , Daniel Groepper , Karen W Gripp , Wendy K Chung

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.

The Journal of pediatrics

Avec: Barbara K Burton , George E Hoganson , Julie Fleischer , Dorothy K Grange , Stephen R Braddock , Rachel Hickey , Lauren Hitchins , Daniel Groepper , Katherine M Christensen , Amelia Kirby , Conny Moody , Heather Shryock , Laura Ashbaugh , Rong Shao , Khaja Basheeruddin

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.

PLoS genetics

Avec: Sarah R Poll , Renan Martin , Elizabeth Wohler , Elizabeth S Partan , Elizabeth Walek , Shaima Salman , Daniel Groepper , Lisa Kratz , Mirlene Cernach , Reynaldo Jesus-Garcia , Chad Haldeman-Englert , Yoon Jae Choi , Carol D Morris , Bernard Cohen , Julie Hoover-Fong , David Valle , Gregg L Semenza , Nara L M Sobreira

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Genome medicine

Avec: Ilaria Mannucci , Nghi D P Dang , Hannes Huber , Jaclyn B Murry , Jeff Abramson , Thorsten Althoff , Siddharth Banka , Gareth Baynam , David Bearden , Ana Beleza-Meireles , Paul J Benke , Siren Berland , Tatjana Bierhals , Frederic Bilan , Laurence A Bindoff , Geir Julius Braathen , Øyvind L Busk , Jirat Chenbhanich , Jonas Denecke , Luis F Escobar , Caroline Estes , Julie Fleischer , Daniel Groepper , Charlotte A Haaxma , Maja Hempel , Yolanda Holler-Managan , Gunnar Houge , Adam Jackson , Laura Kellogg , Boris Keren , Catherine Kiraly-Borri , Cornelia Kraus , Christian Kubisch , Gwenael Le Guyader , Ulf W Ljungblad , Leslie Manace Brenman , Julian A Martinez-Agosto , Matthew Might , David T Miller , Kelly Q Minks , Billur Moghaddam , Caroline Nava , Stanley F Nelson , John M Parant , Trine Prescott , Farrah Rajabi , Hanitra Randrianaivo , Simone F Reiter , Janneke Schuurs-Hoeijmakers , Perry B Shieh , Anne Slavotinek , Sarah Smithson , Alexander P A Stegmann , Kinga Tomczak , Kristian Tveten , Jun Wang , Jordan H Whitlock , Christiane Zweier , Kirsty McWalter , Jane Juusola , Fabiola Quintero-Rivera , Utz Fischer , Nan Cher Yeo , Hans-Jürgen Kreienkamp , Davor Lessel

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.

Epilepsia

Avec: Michelle E Ernst , Evan H Baugh , Amanda Thomas , Louise Bier , Natalie Lippa , Nicholas Stong , Maureen S Mulhern , Sulagna Kushary , Cigdem I Akman , Erin L Heinzen , Raymond Yeh , Weimin Bi , Neil A Hanchard , Lindsay C Burrage , Magalie S Leduc , Josephine S C Chong , Renee Bend , Michael J Lyons , Jennifer A Lee , Pim Suwannarat , Eva Brilstra , Marleen Simon , Marije Koopmans , Ellen van Binsbergen , Daniel Groepper , Julie Fleischer , Caroline Nava , Boris Keren , Cyril Mignot , Sophie Mathieu , Grazia M S Mancini , Suneeta Madan-Khetarpal , Elena M Infante , Judith Bluvstein , Andrea Seeley , Kristine Bachman , Eric W Klee , Laura E Schultz-Rogers , Linda Hasadsri , Sarah Barnett , Marissa S Ellingson , Matthew J Ferber , Vinodh Narayanan , Keri Ramsey , Anita Rauch , Pascal Joset , Katharina Steindl , Theodore Sheehan , Annapurna Poduri , Alejandra Vasquez , Claudia Ruivenkamp , Susan M White , Lynn Pais , Kristin G Monaghan , David B Goldstein , Tristan T Sands , Vimla Aggarwal

An examination of psychosocial and professional effects of the COVID-19 pandemic on genetic counselors.

Journal of genetic counseling

Avec: Nicole Gostic , Daniel Groepper , Megan Trinkle-Tucker , Malynnda Johnson , Kristin B Niendorf

Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

International journal of neonatal screening

Avec: Barbara K Burton , Joel Charrow , George E Hoganson , Julie Fleischer , Dorothy K Grange , Stephen R Braddock , Lauren Hitchins , Rachel Hickey , Katherine M Christensen , Daniel Groepper , Heather Shryock , Pamela Smith , Rong Shao , Khaja Basheeruddin

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Human mutation

Avec: Geeske M van Woerden , Melanie Bos , Charlotte de Konink , Ben Distel , Rossella Avagliano Trezza , Natasha E Shur , Kristin Barañano , Sonal Mahida , Anna Chassevent , Allison Schreiber , Angelika L Erwin , Karen W Gripp , Fatima Rehman , Saskia Brulleman , Róisín McCormack , Gwynna de Geus , Louisa Kalsner , Arthur Sorlin , Ange-Line Bruel , David A Koolen , Melissa K Gabriel , Mari Rossi , David R Fitzpatrick , Andrew O M Wilkie , Eduardo Calpena , David Johnson , Alice Brooks , Marjon van Slegtenhorst , Julie Fleischer , Daniel Groepper , Kristin Lindstrom , A Micheil Innes , Allison Goodwin , Jennifer Humberson , Amanda Noyes , Katherine G Langley , Aida Telegrafi , Amy Blevins , Jessica Hoffman , Maria J Guillen Sacoto , Jane Juusola , Kristin G Monaghan , Sumit Punj , Marleen Simon , Rolph Pfundt , Ype Elgersma , Tjitske Kleefstra

Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.

American journal of medical genetics. Part A

Avec: Deanna Fry , Daniel Groepper , Gretchen MacCarrick , Erin M Demo , Matthew J Thomas , Margaret J Wilkes , Michael J Lyons , Megan E Tucker , Catherine Steding , Julie Fleischer

Réseau de co-auteurs

Julie Fleischer 7 collaborations

Caroline Nava 3 collaborations

Karen W Gripp 2 collaborations

Barbara K Burton 2 collaborations

George E Hoganson 2 collaborations

Dorothy K Grange 2 collaborations

Stephen R Braddock 2 collaborations

Rachel Hickey 2 collaborations

Lauren Hitchins 2 collaborations

Katherine M Christensen 2 collaborations

Heather Shryock 2 collaborations

Rong Shao 2 collaborations

Khaja Basheeruddin 2 collaborations

Boris Keren 2 collaborations

Jane Juusola 2 collaborations

Michael J Lyons 2 collaborations

Marleen Simon 2 collaborations

Kristin G Monaghan 2 collaborations

Ilana Chilton 1 collaboration

Volkan Okur 1 collaboration

Giuseppina Vitiello 1 collaboration

Angelo Selicorni 1 collaboration

Milena Mariani 1 collaboration

Alice Goldenberg 1 collaboration

Thomas Husson 1 collaboration

Dominique Campion 1 collaboration

Klaske D Lichtenbelt 1 collaboration

Koen van Gassen 1 collaboration

Michelle Steinraths 1 collaboration

Jennifer Rice 1 collaboration

Elizabeth R Roeder 1 collaboration

Rebecca O Littlejohn 1 collaboration

Myriam Srour 1 collaboration

Guillaume Sebire 1 collaboration

Andrea Accogli 1 collaboration

Delphine Héron 1 collaboration

Solveig Heide 1 collaboration

Christel Depienne 1 collaboration

Austin Larson 1 collaboration

Dmitriy Niyazov 1 collaboration

Meron Azage 1 collaboration

George Hoganson 1 collaboration

Jennifer Burton 1 collaboration

Eric T Rush 1 collaboration

Janda L Jenkins 1 collaboration

Carol J Saunders 1 collaboration

Isabelle Thiffault 1 collaboration

Joseph T Alaimo 1 collaboration

Wendy K Chung 1 collaboration

Amelia Kirby 1 collaboration

Conny Moody 1 collaboration

Laura Ashbaugh 1 collaboration

Sarah R Poll 1 collaboration

Renan Martin 1 collaboration

Elizabeth Wohler 1 collaboration

Elizabeth S Partan 1 collaboration

Elizabeth Walek 1 collaboration

Shaima Salman 1 collaboration

Lisa Kratz 1 collaboration

Mirlene Cernach 1 collaboration

Reynaldo Jesus-Garcia 1 collaboration

Chad Haldeman-Englert 1 collaboration

Yoon Jae Choi 1 collaboration

Carol D Morris 1 collaboration

Bernard Cohen 1 collaboration

Julie Hoover-Fong 1 collaboration

David Valle 1 collaboration

Gregg L Semenza 1 collaboration

Nara L M Sobreira 1 collaboration

Ilaria Mannucci 1 collaboration

Nghi D P Dang 1 collaboration

Hannes Huber 1 collaboration

Jaclyn B Murry 1 collaboration

Jeff Abramson 1 collaboration

Thorsten Althoff 1 collaboration

Siddharth Banka 1 collaboration

Gareth Baynam 1 collaboration

David Bearden 1 collaboration

Ana Beleza-Meireles 1 collaboration

Paul J Benke 1 collaboration

Siren Berland 1 collaboration

Tatjana Bierhals 1 collaboration

Frederic Bilan 1 collaboration

Laurence A Bindoff 1 collaboration

Geir Julius Braathen 1 collaboration

Øyvind L Busk 1 collaboration

Jirat Chenbhanich 1 collaboration

Jonas Denecke 1 collaboration

Luis F Escobar 1 collaboration

Caroline Estes 1 collaboration

Charlotte A Haaxma 1 collaboration

Maja Hempel 1 collaboration

Yolanda Holler-Managan 1 collaboration

Gunnar Houge 1 collaboration

Adam Jackson 1 collaboration

Laura Kellogg 1 collaboration

Catherine Kiraly-Borri 1 collaboration

Cornelia Kraus 1 collaboration

Christian Kubisch 1 collaboration

Gwenael Le Guyader 1 collaboration

Ulf W Ljungblad 1 collaboration

Leslie Manace Brenman 1 collaboration

Julian A Martinez-Agosto 1 collaboration

Matthew Might 1 collaboration

David T Miller 1 collaboration

Kelly Q Minks 1 collaboration

Billur Moghaddam 1 collaboration

Stanley F Nelson 1 collaboration

John M Parant 1 collaboration

Trine Prescott 1 collaboration

Farrah Rajabi 1 collaboration

Hanitra Randrianaivo 1 collaboration

Simone F Reiter 1 collaboration

Janneke Schuurs-Hoeijmakers 1 collaboration

Perry B Shieh 1 collaboration

Anne Slavotinek 1 collaboration

Sarah Smithson 1 collaboration

Alexander P A Stegmann 1 collaboration

Kinga Tomczak 1 collaboration

Kristian Tveten 1 collaboration

Jun Wang 1 collaboration

Jordan H Whitlock 1 collaboration

Christiane Zweier 1 collaboration

Kirsty McWalter 1 collaboration

Fabiola Quintero-Rivera 1 collaboration

Utz Fischer 1 collaboration

Nan Cher Yeo 1 collaboration

Hans-Jürgen Kreienkamp 1 collaboration

Davor Lessel 1 collaboration

Michelle E Ernst 1 collaboration

Evan H Baugh 1 collaboration

Amanda Thomas 1 collaboration

Louise Bier 1 collaboration

Natalie Lippa 1 collaboration

Nicholas Stong 1 collaboration

Maureen S Mulhern 1 collaboration

Sulagna Kushary 1 collaboration

Cigdem I Akman 1 collaboration

Erin L Heinzen 1 collaboration

Raymond Yeh 1 collaboration

Weimin Bi 1 collaboration

Neil A Hanchard 1 collaboration

Lindsay C Burrage 1 collaboration

Magalie S Leduc 1 collaboration

Josephine S C Chong 1 collaboration

Renee Bend 1 collaboration

Jennifer A Lee 1 collaboration

Pim Suwannarat 1 collaboration

Eva Brilstra 1 collaboration

Marije Koopmans 1 collaboration

Ellen van Binsbergen 1 collaboration

Cyril Mignot 1 collaboration

Sophie Mathieu 1 collaboration

Grazia M S Mancini 1 collaboration

Suneeta Madan-Khetarpal 1 collaboration

Elena M Infante 1 collaboration

Judith Bluvstein 1 collaboration

Andrea Seeley 1 collaboration

Kristine Bachman 1 collaboration

Eric W Klee 1 collaboration

Laura E Schultz-Rogers 1 collaboration

Linda Hasadsri 1 collaboration

Sarah Barnett 1 collaboration

Marissa S Ellingson 1 collaboration

Matthew J Ferber 1 collaboration

Vinodh Narayanan 1 collaboration

Keri Ramsey 1 collaboration

Anita Rauch 1 collaboration

Pascal Joset 1 collaboration

Katharina Steindl 1 collaboration

Theodore Sheehan 1 collaboration

Annapurna Poduri 1 collaboration

Alejandra Vasquez 1 collaboration

Claudia Ruivenkamp 1 collaboration

Susan M White 1 collaboration

Lynn Pais 1 collaboration

David B Goldstein 1 collaboration

Tristan T Sands 1 collaboration

Vimla Aggarwal 1 collaboration

Nicole Gostic 1 collaboration

Megan Trinkle-Tucker 1 collaboration

Malynnda Johnson 1 collaboration

Kristin B Niendorf 1 collaboration

Joel Charrow 1 collaboration

Pamela Smith 1 collaboration

Geeske M van Woerden 1 collaboration

Melanie Bos 1 collaboration

Charlotte de Konink 1 collaboration

Ben Distel 1 collaboration

Rossella Avagliano Trezza 1 collaboration

Natasha E Shur 1 collaboration

Kristin Barañano 1 collaboration

Sonal Mahida 1 collaboration

Anna Chassevent 1 collaboration

Allison Schreiber 1 collaboration

Angelika L Erwin 1 collaboration

Fatima Rehman 1 collaboration

Saskia Brulleman 1 collaboration

Róisín McCormack 1 collaboration

Gwynna de Geus 1 collaboration

Louisa Kalsner 1 collaboration

Arthur Sorlin 1 collaboration

Ange-Line Bruel 1 collaboration

David A Koolen 1 collaboration

Melissa K Gabriel 1 collaboration

Mari Rossi 1 collaboration

David R Fitzpatrick 1 collaboration

Andrew O M Wilkie 1 collaboration

Eduardo Calpena 1 collaboration

David Johnson 1 collaboration

Alice Brooks 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Kristin Lindstrom 1 collaboration

A Micheil Innes 1 collaboration

Allison Goodwin 1 collaboration

Jennifer Humberson 1 collaboration

Amanda Noyes 1 collaboration

Katherine G Langley 1 collaboration

Aida Telegrafi 1 collaboration

Amy Blevins 1 collaboration

Jessica Hoffman 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Sumit Punj 1 collaboration

Rolph Pfundt 1 collaboration

Ype Elgersma 1 collaboration

Tjitske Kleefstra 1 collaboration

Deanna Fry 1 collaboration

Gretchen MacCarrick 1 collaboration

Erin M Demo 1 collaboration

Matthew J Thomas 1 collaboration

Margaret J Wilkes 1 collaboration

Megan E Tucker 1 collaboration

Catherine Steding 1 collaboration