James T Bennett

James T Bennett

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James T Bennett

James T Bennett

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A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.

Am J Med Genet A 2019 Dec 8. Epub 2019 Dec 8.

Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61442DOI Listing
December 2019

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.

JCI Insight 2019 Nov 1;4(21). Epub 2019 Nov 1.

Center For Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA.

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http://dx.doi.org/10.1172/jci.insight.129884DOI Listing
November 2019

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.

Am J Med Genet A 2019 May 3;179(5):842-845. Epub 2019 Mar 3.

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61096DOI Listing
May 2019

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.

Am J Hum Genet 2019 May 11;104(5):936-947. Epub 2019 Apr 11.

Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506793PMC
May 2019

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges.

J Genet Couns 2019 Apr;28(2):283-291

Department of Laboratories, Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/jgc4.1116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481675PMC
April 2019

A comprehensive review of the diagnosis and management of congenital scoliosis.

Childs Nerv Syst 2018 11 4;34(11):2155-2171. Epub 2018 Aug 4.

Shriners Hospitals for Children-Philadelphia, 3551 N Broad Street, Philadelphia, PA, 19140, USA.

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http://link.springer.com/10.1007/s00381-018-3915-6
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http://dx.doi.org/10.1007/s00381-018-3915-6DOI Listing
November 2018

Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.

Am J Med Genet C Semin Med Genet 2018 09 27;178(3):374-378. Epub 2018 Sep 27.

Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.c.31656DOI Listing
September 2018

Clinical and genetic characterization of AP4B1-associated SPG47.

Am J Med Genet A 2018 02 28;176(2):311-318. Epub 2017 Nov 28.

Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, and Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38561DOI Listing
February 2018

Outcomes of patients with syringomyelia undergoing spine deformity surgery: do large syrinxes behave differently from small?

Spine J 2017 10 13;17(10):1406-1411. Epub 2017 Apr 13.

Drexel University College of Medicine, 2900 W Queen Ln, Philadelphia, PA, 19129, USA.

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http://dx.doi.org/10.1016/j.spinee.2017.04.006DOI Listing
October 2017

Evaluation and management of adolescent idiopathic scoliosis: a review.

Neurosurg Focus 2017 Oct;43(4):E2

Department of Neurological Surgery, Weill Cornell Medical College, New York, New York.

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http://dx.doi.org/10.3171/2017.7.FOCUS17297DOI Listing
October 2017

A Novel Motion-Preservation Technique for Intra and Intra-Intersegmental Repair of Spondylolysis and Spondylolisthesis: The Lin Technique.

Surg Technol Int 2016 Oct;29:367-373

Department of Orthopaedic Surgery, SUN Orthopaedics of Evangelical, Lewisburg, Pennsylvania.

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October 2016

Major perioperative complications after spine surgery in patients with cerebral palsy: assessment of risk factors.

Eur Spine J 2016 Mar 7;25(3):795-800. Epub 2015 Jul 7.

Johns Hopkins Hospital, 601 North Caroline Street, #5212, Baltimore, MD, 21287, USA.

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http://dx.doi.org/10.1007/s00586-015-4054-3DOI Listing
March 2016

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Mol Genet Metab 2015 Mar 20;114(3):451-8. Epub 2014 Dec 20.

Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.12.304DOI Listing
March 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

Results of selective thoracic versus nonselective fusion in Lenke type 3 curves.

Spine (Phila Pa 1976) 2014 Nov;39(24):2034-41

*University of Virginia Health System, Charlottesville, VA †Shriners Hospitals for Children, Philadelphia, PA ‡Johns Hopkins Hospital, Baltimore, MD §Rady Children's Hospital, San Diego, CA ¶NYU Hospital for Joint Diseases, New York, NY ‖British Columbia Children's Hospital, Vancouver, British Columbia, Canada; and **Institute for Spine & Scoliosis, Lawrenceville, NJ.

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http://dx.doi.org/10.1097/BRS.0000000000000623DOI Listing
November 2014

The posterior pedicle screw construct: 5-year results for thoracolumbar and lumbar curves.

J Neurosurg Spine 2013 Dec 27;19(6):658-63. Epub 2013 Sep 27.

Shriners Hospitals for Children, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.3171/2013.8.SPINE12816DOI Listing
December 2013

Unplanned return to the operating room in patients with adolescent idiopathic scoliosis: are we doing better with pedicle screws?

Spine (Phila Pa 1976) 2013 Oct;38(21):1842-7

*Shriners Hospitals for Children, Philadelphia, PA †Rady Children's Hospital, San Diego, CA ‡British Columbia Children's Hospital, Vancouver, BC, Canada §Miami Children's Hospital, Miami, FL; and ¶NYU Hospital for Joint Diseases, New York, NY.

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http://dx.doi.org/10.1097/BRS.0b013e3182a42a99DOI Listing
October 2013

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Am J Hum Genet 2013 Oct 19;93(4):631-40. Epub 2013 Sep 19.

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791261PMC
October 2013

Does Amicar affect blood loss in patients with adolescent idiopathic scoliosis treated with pedicle screws and Ponte osteotomies?

Surg Technol Int 2013 Sep;23:291-5

Shriners Hospitals for Children Philadelphia, Pennsylvania.

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September 2013

Adolescent fracture of the talus associated with talus partitus.

J Surg Orthop Adv 2013 ;22(2):164-7

Tulane Orthopaedics SL32, New Orleans, Louisiana 70112, USA.

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http://dx.doi.org/10.3113/jsoa.2013.0164DOI Listing
July 2013

Adolescent scoliosis classification and treatment.

Neurosurg Clin N Am 2013 Apr 1;24(2):173-83. Epub 2013 Feb 1.

Department of Orthopaedic Surgery, Shriners Hospitals for Children-Philadelphia, Philadelphia, PA 19140, USA.

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http://dx.doi.org/10.1016/j.nec.2012.12.006DOI Listing
April 2013

An exceptional family with three consecutive generations affected by Wilson disease.

JIMD Rep 2013 7;10:1-4. Epub 2013 Feb 7.

Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, USA.

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http://dx.doi.org/10.1007/8904_2012_206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755567PMC
March 2013

Maternal nodal and zebrafish embryogenesis.

Nature 2007 Nov;450(7167):E1-2; discussion E2-4

Developmental Genetics Program, Skirball Institute of Biomolecular Medicine, New York University School of Medicine, New York, New York 10016, USA.

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http://dx.doi.org/10.1038/nature06314DOI Listing
November 2007

Nodal signaling activates differentiation genes during zebrafish gastrulation.

Dev Biol 2007 Apr 12;304(2):525-40. Epub 2007 Jan 12.

Developmental Genetics Program, Skirball Institute of Biomolecular Medicine, and Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA.

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http://dx.doi.org/10.1016/j.ydbio.2007.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885460PMC
April 2007

Electrocautery-induced asystole in a scoliosis patient with a pacemaker.

J Pediatr Orthop B 2007 Jan;16(1):19-22

Tulane University School of Medicine, New Orleans, Louisiana 70112, USA.

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http://dx.doi.org/10.1097/01.bpb.0000236222.68583.4eDOI Listing
January 2007

Bilateral patellar dislocation associated with alpha-mannosidase deficiency.

J Pediatr Orthop B 2006 May;15(3):215-9

Department of Orthopaedic Surgery, University of Tennessee, Memphis, Tennessee, USA.

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http://dx.doi.org/10.1097/01.bpb.0000188248.79029.1dDOI Listing
May 2006

Current management of idiopathic clubfoot questionnaire: a multicentric study.

J Pediatr Orthop 2003 Nov-Dec;23(6):780-7

Tulane University School of Medicine, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1097/00004694-200311000-00017DOI Listing
March 2004

Mixer/Bon and FoxH1/Sur have overlapping and divergent roles in Nodal signaling and mesendoderm induction.

Development 2003 Dec 1;130(23):5589-99. Epub 2003 Oct 1.

Developmental Genetics Program, Skirball Institute of Biomolecular Medicine, Department of Cell Biology, New York University School of Medicine, New York, NY 10016, USA.

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http://dx.doi.org/10.1242/dev.00803DOI Listing
December 2003

Nonunion of femoral neck fracture and trochanteric osteotomy after a pinned, slipped capital femoral epiphysis: a case report.

Am J Orthop (Belle Mead NJ) 2003 Nov;32(11):551-5

Department of Orthopaedic Surgery, Tulane University School of Medicine, New Orleans, Louisiana 70112-2699, USA.

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November 2003

EGF-CFC proteins are essential coreceptors for the TGF-beta signals Vg1 and GDF1.

Genes Dev 2003 Jan;17(1):31-6

Developmental Genetics Program, Skirball Institute of Biomolecular Medicine, Department of Cell Biology, New York University School of Medicine, New York, New York 10016, USA.

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http://dx.doi.org/10.1101/gad.1041203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC195969PMC
January 2003

Forced use treatment of childhood hemiparesis.

Pediatrics 2002 Jul;110(1 Pt 1):94-6

Department of Psychiatry and Neurology, Tulane University School of Medicine, New Orleans, Louisiana 70112, USA.

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http://dx.doi.org/10.1542/peds.110.1.94DOI Listing
July 2002

Arthrographic findings in Legg-Calvé-Perthes disease.

J Pediatr Orthop B 2002 Apr;11(2):110-6

Department of Orthopaedic Surgery, Tulane University School of Medicine, New Orleans, Louisiana 70112, USA.

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http://dx.doi.org/10.1097/00009957-200204000-00005DOI Listing
April 2002