Publications by authors named "Jennifer A Sullivan"

27Publications

A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.

Am J Med Genet A 2020 08 22;182(8):1947-1951. Epub 2020 May 22.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

View Article and Find Full Text PDF
August 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

View Article and Find Full Text PDF
January 2020

Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia.

J Hepatol 2007 Nov 18;47(5):658-63. Epub 2007 Jun 18.

Department of Surgery, Duke University Medical Center, Box 3247, Durham, NC 27710, USA.

View Article and Find Full Text PDF
November 2007

Hypercoagulability syndromes: what the dentist needs to know.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Jul 22;104(1):3-11. Epub 2007 Feb 22.

Division of Oral Diagnosis, Medicine and Radiology, Department of Oral Health Practice and Diagnostic Radiology, University of Kentucky College of Dentistry, Lexington, Kentucky 40536, USA.

View Article and Find Full Text PDF
July 2007

Evaluating closest speaking space with Spanish terms.

J Prosthet Dent 2006 Apr;95(4):333

Division of Restorative Dentistry, College of Dentistry, University of Kentucky, Lexington, 40536-0297, USA.

View Article and Find Full Text PDF
April 2006

Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.

Mol Genet Metab 2006 May 8;88(1):90-2. Epub 2006 Feb 8.

Department of Pediatrics, University of North Carolina, Chapel Hill, NC 27599, USA.

View Article and Find Full Text PDF
May 2006

Genetic Library.

J Genet Couns 2003 Jun;12(3):265-9

Pediatric Medical Genetics, Duke University Medical Center, Durham, North Carolina,

View Article and Find Full Text PDF
June 2003

Editorial Notes.

J Genet Couns 2003 Feb;12(1):1-3

Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina,

View Article and Find Full Text PDF
February 2003

Editorial.

J Genet Couns 2002 Aug;11(4):237-9

Duke University Medical Center, Durham, North Carolina,

View Article and Find Full Text PDF
August 2002

Carrier testing in fragile X syndrome: when to tell and test.

Am J Med Genet 2002 Jun;110(1):36-44

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

View Article and Find Full Text PDF
June 2002

Genetic Library.

J Genet Couns 2002 Jun;11(3):231-5

Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.

View Article and Find Full Text PDF
June 2002

Editorial Introduction.

J Genet Couns 2002 Feb;11(1):1-3

Duke University Medical Center, Durham, North Carolina,

View Article and Find Full Text PDF
February 2002

A comparison of three combinations of injectable anesthetics in miniature donkeys.

Vet Anaesth Analg 2002 Jan 15;29(1):36-42. Epub 2016 Nov 15.

The Texas Veterinary Medical Center, Texas A & M University, College Station, USA.

View Article and Find Full Text PDF
January 2002