Michael B Bober

Affiliations

Division of Medical Genetics, Alfred I du Pont Hospital for Children, Wilmington, DE, USA.

Publications (21)

Mobility in osteogenesis imperfecta: a multicenter North American study.

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

Avec: Karen M Kruger , Angela Caudill , Mercedes Rodriguez Celin , Sandesh C S Nagamani , Jay R Shapiro , Robert D Steiner , Michael B Bober , Tracy Hart , David Cuthbertson , Jeff Krischer , Peter H Byers , Michaela Durigova , Francis H Glorieux , Frank Rauch , V Reid Sutton , Brendan Lee , Eric T Rush , Peter A Smith , Gerald F Harris

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Human mutation

Avec: Žygimantė Tarnauskaitė , Louise S Bicknell , Joseph A Marsh , Jennie E Murray , David A Parry , Clare V Logan , Michael B Bober , Deepthi C de Silva , Angela L Duker , David Sillence , Carol Wise , Andrew P Jackson , Olga Murina , Martin A M Reijns

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.

Journal of pediatric orthopedics

Avec: Oussama Abousamra , Vinay Kandula , Angela L Duker , Kenneth J Rogers , Michael B Bober , William G Mackenzie

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.

Orphanet journal of rare diseases

Avec: Ravi Savarirayan , David E Tunkel , Laura M Sterni , Michael B Bober , Tae-Joon Cho , Michael J Goldberg , Julie Hoover-Fong , Melita Irving , Shawn E Kamps , William G Mackenzie , Cathleen Raggio , Samantha A Spencer , Viviana Bompadre , Klane K White , Auteur inconnu

Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw.

Frontiers in pediatrics

Avec: Kristen Ferriero , Biraj Shah , Yun Yan , Surya Khatri , John Caccamese , Joseph A Napoli , Michael B Bober , Janet L Crane

Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes.

Neurosurgery clinics of North America

Avec: Melissa A Villegas , Ericka Okenfuss , Ravi Savarirayan , Klane White , Julie Hoover-Fong , Michael B Bober , Angela Duker , Janet M Legare

Long-term vascular access for infants with moderate to severe osteogenesis imperfecta.

Pediatric surgery international

Avec: Courtney L Devin , Emily Sagalow , Annalise Penikis , Cristina M McGreal , Michael B Bober , Loren Berman

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.

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

Avec: Julie E Hoover-Fong , Adekemi Y Alade , S Shahrukh Hashmi , Jacqueline T Hecht , Janet M Legare , Mary Ellen Little , Chengxin Liu , John McGready , Peggy Modaff , Richard M Pauli , David F Rodriguez-Buritica , Kerry J Schulze , Maria Elena Serna , Cory J Smid , Michael B Bober

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.

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

Avec: Mahim Jain , Allison Tam , Jay R Shapiro , Robert D Steiner , Peter A Smith , Michael B Bober , Tracy Hart , David Cuthbertson , Jeff Krischer , Mary Mullins , Sunil Bellur , Peter H Byers , Melanie Pepin , Michaela Durigova , Francis H Glorieux , Frank Rauch , Brendan Lee , V Reid Sutton , Auteur inconnu , Sandesh C S Nagamani

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.

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

Avec: Ravi Savarirayan , Viviana Bompadre , Michael B Bober , Tae-Joon Cho , Michael J Goldberg , Julie Hoover-Fong , Melita Irving , Shawn E Kamps , William G Mackenzie , Cathleen Raggio , Samantha S Spencer , Klane K White , Auteur inconnu

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.

American journal of medical genetics. Part A

Avec: Keren Machol , Trevor D Hadley , Jake Schmidt , David Cuthbertson , Henri Traboulsi , Rodrigo C Silva , Chloe Citron , Sobiah Khan , Kate Citron , Erin Carter , Kenneth Brookler , Jay R Shapiro , Robert D Steiner , Peter H Byers , Francis H Glorieux , Michaela Durigova , Peter Smith , Michael B Bober , Vernon R Sutton , Brendan H Lee , Auteur inconnu , Sandesh C S Nagamani , Cathleen Raggio

NOVEL

AACE clinical case reports

Avec: Meghan E Fredette , Kristin C Lombardi , Angela L Duker , Catherine O Buck , Chanika Phornphutkul , Michael B Bober , Jose Bernardo Quintos

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.

Therapeutic advances in musculoskeletal disease

Avec: Ravi Savarirayan , Josep Maria De Bergua , Paul Arundel , Helen McDevitt , Valerie Cormier-Daire , Vrinda Saraff , Mars Skae , Borja Delgado , Antonio Leiva-Gea , Fernando Santos-Simarro , Jean Pierre Salles , Marc Nicolino , Massimiliano Rossi , Peter Kannu , Michael B Bober , John Phillips , Howard Saal , Paul Harmatz , Christine Burren , Garrett Gotway , Terry Cho , Elena Muslimova , Richard Weng , Daniela Rogoff , Julie Hoover-Fong , Melita Irving

Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.

International journal of molecular sciences

Avec: Fabian Dorninger , Attila Kiss , Peter Rothauer , Alexander Stiglbauer-Tscholakoff , Stefan Kummer , Wedad Fallatah , Mireia Perera-Gonzalez , Ouafa Hamza , Theresa König , Michael B Bober , Tiscar Cavallé-Garrido , Nancy E Braverman , Sonja Forss-Petter , Christian Pifl , Jan Bauer , Reginald E Bittner , Thomas H Helbich , Bruno K Podesser , Hannes Todt , Johannes Berger

Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia.

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

Avec: Bobby K Brar , Michael B Bober , Ethan Gough , S Shahrukh Hashmi , Jacqueline T Hecht , Lorena Dujmusic , Mary E Little , Peggy Modaff , Richard M Pauli , David F Rodriguez-Buritica , Maria E Serna , Cory Smid , Janet M Legare , Julie E Hoover-Fong

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.

Advances in therapy

Avec: Oliver Semler , Valérie Cormier-Daire , Ekkehart Lausch , Michael B Bober , Ricki Carroll , Sérgio B Sousa , David Deyle , Maha Faden , Gabriele Hartmann , Aaron J Huser , Janet M Legare , Klaus Mohnike , Tilman R Rohrer , Frank Rutsch , Pamela Smith , Andre M Travessa , Angela Verardo , Klane K White , William R Wilcox , Julie Hoover-Fong

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.

Orphanet journal of rare diseases

Avec: Ingunn Westerheim , Tracy Hart , Taco van Welzenis , Lena Lande Wekre , Oliver Semler , Cathleen Raggio , Michael B Bober , Maria Rapoport , Samantha Prince , Frank Rauch

Best practice guidelines for management of spinal disorders in skeletal dysplasia.

Orphanet journal of rare diseases

Avec: Klane K White , Michael B Bober , Tae-Joon Cho , Michael J Goldberg , Julie Hoover-Fong , Melita Irving , Shawn E Kamps , William G Mackenzie , Cathleen Raggio , Samantha A Spencer , Viviana Bompadre , Ravi Savarirayan , Auteur inconnu

Growth in individuals with Saul-Wilson syndrome.

American journal of medical genetics. Part A

Avec: Carlos R Ferreira , Timothy Niiler , Angela L Duker , Andrew P Jackson , Michael B Bober

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

RNA (New York, N.Y.)

Avec: Audric Cologne , Clara Benoit-Pilven , Alicia Besson , Audrey Putoux , Amandine Campan-Fournier , Michael B Bober , Christine E M De Die-Smulders , Aimee D C Paulussen , Lucile Pinson , Annick Toutain , Chaim M Roifman , Anne-Louise Leutenegger , Sylvie Mazoyer , Patrick Edery , Vincent Lacroix

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

American journal of human genetics

Avec: Amy J LaCroix , Deborah Stabley , Rebecca Sahraoui , Margaret P Adam , Michele Mehaffey , Kelly Kernan , Candace T Myers , Carrie Fagerstrom , George Anadiotis , Yassmine M Akkari , Katherine M Robbins , Karen W Gripp , Wagner A R Baratela , Michael B Bober , Angela L Duker , Dan Doherty , Jennifer C Dempsey , Daniel G Miller , Martin Kircher , Michael J Bamshad , Deborah A Nickerson , Auteur inconnu , Heather C Mefford , Katia Sol-Church

Réseau de co-auteurs

Julie Hoover-Fong 6 collaborations

None None 6 collaborations

Angela L Duker 5 collaborations

Ravi Savarirayan 5 collaborations

Cathleen Raggio 5 collaborations

William G Mackenzie 4 collaborations

Melita Irving 4 collaborations

Klane K White 4 collaborations

Janet M Legare 4 collaborations

Sandesh C S Nagamani 3 collaborations

Jay R Shapiro 3 collaborations

Robert D Steiner 3 collaborations

Tracy Hart 3 collaborations

David Cuthbertson 3 collaborations

Peter H Byers 3 collaborations

Michaela Durigova 3 collaborations

Francis H Glorieux 3 collaborations

Frank Rauch 3 collaborations

Tae-Joon Cho 3 collaborations

Michael J Goldberg 3 collaborations

Shawn E Kamps 3 collaborations

Viviana Bompadre 3 collaborations

Jeff Krischer 2 collaborations

V Reid Sutton 2 collaborations

Brendan Lee 2 collaborations

Peter A Smith 2 collaborations

Andrew P Jackson 2 collaborations

Samantha A Spencer 2 collaborations

Julie E Hoover-Fong 2 collaborations

S Shahrukh Hashmi 2 collaborations

Jacqueline T Hecht 2 collaborations

Peggy Modaff 2 collaborations

Richard M Pauli 2 collaborations

David F Rodriguez-Buritica 2 collaborations

Oliver Semler 2 collaborations

Karen M Kruger 1 collaboration

Angela Caudill 1 collaboration

Mercedes Rodriguez Celin 1 collaboration

Eric T Rush 1 collaboration

Gerald F Harris 1 collaboration

Žygimantė Tarnauskaitė 1 collaboration

Louise S Bicknell 1 collaboration

Joseph A Marsh 1 collaboration

Jennie E Murray 1 collaboration

David A Parry 1 collaboration

Clare V Logan 1 collaboration

Deepthi C de Silva 1 collaboration

David Sillence 1 collaboration

Carol Wise 1 collaboration

Olga Murina 1 collaboration

Martin A M Reijns 1 collaboration

Oussama Abousamra 1 collaboration

Vinay Kandula 1 collaboration

Kenneth J Rogers 1 collaboration

David E Tunkel 1 collaboration

Laura M Sterni 1 collaboration

Kristen Ferriero 1 collaboration

Biraj Shah 1 collaboration

Yun Yan 1 collaboration

Surya Khatri 1 collaboration

John Caccamese 1 collaboration

Joseph A Napoli 1 collaboration

Janet L Crane 1 collaboration

Melissa A Villegas 1 collaboration

Ericka Okenfuss 1 collaboration

Klane White 1 collaboration

Angela Duker 1 collaboration

Courtney L Devin 1 collaboration

Emily Sagalow 1 collaboration

Annalise Penikis 1 collaboration

Cristina M McGreal 1 collaboration

Loren Berman 1 collaboration

Adekemi Y Alade 1 collaboration

Mary Ellen Little 1 collaboration

Chengxin Liu 1 collaboration

John McGready 1 collaboration

Kerry J Schulze 1 collaboration

Maria Elena Serna 1 collaboration

Cory J Smid 1 collaboration

Mahim Jain 1 collaboration

Allison Tam 1 collaboration

Mary Mullins 1 collaboration

Sunil Bellur 1 collaboration

Melanie Pepin 1 collaboration

Samantha S Spencer 1 collaboration

Keren Machol 1 collaboration

Trevor D Hadley 1 collaboration

Jake Schmidt 1 collaboration

Henri Traboulsi 1 collaboration

Rodrigo C Silva 1 collaboration

Chloe Citron 1 collaboration

Sobiah Khan 1 collaboration

Kate Citron 1 collaboration

Erin Carter 1 collaboration

Kenneth Brookler 1 collaboration

Peter Smith 1 collaboration

Vernon R Sutton 1 collaboration

Brendan H Lee 1 collaboration

Meghan E Fredette 1 collaboration

Kristin C Lombardi 1 collaboration

Catherine O Buck 1 collaboration

Chanika Phornphutkul 1 collaboration

Jose Bernardo Quintos 1 collaboration

Josep Maria De Bergua 1 collaboration

Paul Arundel 1 collaboration

Helen McDevitt 1 collaboration

Valerie Cormier-Daire 1 collaboration

Vrinda Saraff 1 collaboration

Mars Skae 1 collaboration

Borja Delgado 1 collaboration

Antonio Leiva-Gea 1 collaboration

Fernando Santos-Simarro 1 collaboration

Jean Pierre Salles 1 collaboration

Marc Nicolino 1 collaboration

Massimiliano Rossi 1 collaboration

Peter Kannu 1 collaboration

John Phillips 1 collaboration

Howard Saal 1 collaboration

Paul Harmatz 1 collaboration

Christine Burren 1 collaboration

Garrett Gotway 1 collaboration

Terry Cho 1 collaboration

Elena Muslimova 1 collaboration

Richard Weng 1 collaboration

Daniela Rogoff 1 collaboration

Fabian Dorninger 1 collaboration

Attila Kiss 1 collaboration

Peter Rothauer 1 collaboration

Alexander Stiglbauer-Tscholakoff 1 collaboration

Stefan Kummer 1 collaboration

Wedad Fallatah 1 collaboration

Mireia Perera-Gonzalez 1 collaboration

Ouafa Hamza 1 collaboration

Theresa König 1 collaboration

Tiscar Cavallé-Garrido 1 collaboration

Nancy E Braverman 1 collaboration

Sonja Forss-Petter 1 collaboration

Christian Pifl 1 collaboration

Jan Bauer 1 collaboration

Reginald E Bittner 1 collaboration

Thomas H Helbich 1 collaboration

Bruno K Podesser 1 collaboration

Hannes Todt 1 collaboration

Johannes Berger 1 collaboration

Bobby K Brar 1 collaboration

Ethan Gough 1 collaboration

Lorena Dujmusic 1 collaboration

Mary E Little 1 collaboration

Maria E Serna 1 collaboration

Cory Smid 1 collaboration

Valérie Cormier-Daire 1 collaboration

Ekkehart Lausch 1 collaboration

Ricki Carroll 1 collaboration

Sérgio B Sousa 1 collaboration

David Deyle 1 collaboration

Maha Faden 1 collaboration

Gabriele Hartmann 1 collaboration

Aaron J Huser 1 collaboration

Klaus Mohnike 1 collaboration

Tilman R Rohrer 1 collaboration

Frank Rutsch 1 collaboration

Pamela Smith 1 collaboration

Andre M Travessa 1 collaboration

Angela Verardo 1 collaboration

William R Wilcox 1 collaboration

Ingunn Westerheim 1 collaboration

Taco van Welzenis 1 collaboration

Lena Lande Wekre 1 collaboration

Maria Rapoport 1 collaboration

Samantha Prince 1 collaboration

Carlos R Ferreira 1 collaboration

Timothy Niiler 1 collaboration

Audric Cologne 1 collaboration

Clara Benoit-Pilven 1 collaboration

Alicia Besson 1 collaboration

Audrey Putoux 1 collaboration

Amandine Campan-Fournier 1 collaboration

Christine E M De Die-Smulders 1 collaboration

Aimee D C Paulussen 1 collaboration

Lucile Pinson 1 collaboration

Annick Toutain 1 collaboration

Chaim M Roifman 1 collaboration

Anne-Louise Leutenegger 1 collaboration

Sylvie Mazoyer 1 collaboration

Patrick Edery 1 collaboration

Vincent Lacroix 1 collaboration

Amy J LaCroix 1 collaboration

Deborah Stabley 1 collaboration

Rebecca Sahraoui 1 collaboration

Margaret P Adam 1 collaboration

Michele Mehaffey 1 collaboration

Kelly Kernan 1 collaboration

Candace T Myers 1 collaboration

Carrie Fagerstrom 1 collaboration

George Anadiotis 1 collaboration

Yassmine M Akkari 1 collaboration

Katherine M Robbins 1 collaboration

Karen W Gripp 1 collaboration

Wagner A R Baratela 1 collaboration

Dan Doherty 1 collaboration

Jennifer C Dempsey 1 collaboration

Daniel G Miller 1 collaboration

Martin Kircher 1 collaboration

Michael J Bamshad 1 collaboration

Deborah A Nickerson 1 collaboration

Heather C Mefford 1 collaboration

Katia Sol-Church 1 collaboration