Jodi D Hoffman

Jodi D Hoffman

UNVERIFIED PROFILE

Are you Jodi D Hoffman?   Register this Author

Register author
Jodi D Hoffman

Jodi D Hoffman

Publications by authors named "Jodi D Hoffman"

Are you Jodi D Hoffman?   Register this Author

22Publications

847Reads

6Profile Views

Response to Knoppers et al.

Genet Med 2019 Oct 11;21(10):2403. Epub 2019 Apr 11.

Division of Translational Medicine and Human Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0496-zDOI Listing
October 2019

Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping review.

Clin Genet 2019 Aug 17. Epub 2019 Aug 17.

Division of General Medicine and Primary Care, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13624DOI Listing
August 2019

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2019 04 22;21(4):769-771. Epub 2018 Dec 22.

Division of Translational Medicine and Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0391-zDOI Listing
April 2019

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.

Am J Med Genet A 2015 Nov 25;167A(11):2497-502. Epub 2015 Jun 25.

Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37217DOI Listing
November 2015

Three new families with recurrent male miscarriages and hypercoiled umbilical cord.

Clin Dysmorphol 2015 Jul;24(3):128-31

aDivision of Genetics bDivision of Maternal Fetal Medicine, Tufts Medical Center, Boston, Massachusetts cSt Joseph Mercy Oakland, Pontiac, Michigan, USA dDepartment of Genetics, University of Pretoria, Pretoria, South Africa eNational Maternity Hospital, Dublin 2, Ireland.

View Article

Download full-text PDF

Source
http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/MCD.0000000000000084DOI Listing
July 2015

The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.

Prenat Diagn 2014 Dec 31;34(12):1161-7. Epub 2014 Jul 31.

Division of Genetics, Floating Hospital for Children, Tufts Medical Center, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4446DOI Listing
December 2014

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

Eur J Med Genet 2013 Apr 26;56(4):216-21. Epub 2013 Jan 26.

Division of Medical Genetics, Galliera Hospital, Via Volta 6, 16128 Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.01.005DOI Listing
April 2013

More than just skin deep: faciocutaneous clues to genetic syndromes with malignancies.

Oncologist 2012 15;17(7):930-6. Epub 2012 Jun 15.

Department of Dermatology, Third Military Medical University, Chongqing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1634/theoncologist.2012-0033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399649PMC
February 2013

A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.

Am J Med Genet A 2007 Jun;143A(12):1282-6

Division of Genetics, Department of Pediatrics, Tufts-New England Medical Center, Boston, Massachusetts 02111, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31780
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31780DOI Listing
June 2007

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

Am J Med Genet A 2006 Oct;140(20):2163-9

Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware 19899, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31456DOI Listing
October 2006

Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency.

Mil Med 2006 Jul;171(7):657-8

Division of Genetics, Tufts-New England Medical Center, Boston, MA 02111, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7205/milmed.171.7.657DOI Listing
July 2006

The natural history of trisomy 12p.

Am J Med Genet A 2006 Apr;140(7):695-703

Department of Pediatrics, Division of Genetics, Tufts-New England Medical Center, Boston, Massachusetts 02111, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31143
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31143DOI Listing
April 2006

Immune abnormalities are a frequent manifestation of Kabuki syndrome.

Am J Med Genet A 2005 Jun;135(3):278-81

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30722DOI Listing
June 2005