Publications by authors named "Quinn Stein"

32Publications

Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016.

J Genet Couns 2019 08 6;28(4):869-877. Epub 2019 May 6.

Department of Genetic Counseling, Augustana University, Sioux Falls, South Dakota.

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August 2019

Genetic Counseling in Pediatrics.

Pediatr Rev 2018 Jul;39(7):323-331

Department of Genetic Counseling, Augustana University, Sioux Falls, SD.

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July 2018

Genesurance Counseling: Patient Perspectives.

J Genet Couns 2018 08 19;27(4):814-822. Epub 2018 Jan 19.

Department of Obstetrics, Gynecology, and Reproductive Sciences, McGovern Medical School, UTHealth, Houston, TX, 77030, USA.

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August 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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November 2017

Experiences of Genetic Counselors Practicing in Rural Areas.

J Genet Couns 2018 02 22;27(1):140-154. Epub 2017 Aug 22.

Boston University School of Medicine, Boston, MA, USA.

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February 2018

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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August 2015

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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April 2014

Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

Am J Med Genet A 2014 May 29;164A(5):1268-71. Epub 2014 Jan 29.

Sanford School of Medicine of the University of South Dakota, Sioux Falls, South Dakota.

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May 2014

Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey.

Curr Probl Pediatr Adolesc Health Care 2012 Mar;42(3):74-8

Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.

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March 2012

The influential role of genes in obesity.

S D Med 2011 ;Spec No:12-5, 17

Department of Pediatrics, Sanford School of Medicine, University of South Dakota, USA.

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August 2011

Three-dimensional ultrasound to detect Apert syndrome and improve patient understanding.

S D Med 2011 Apr;64(4):125-7

Sanford School of Medicine, The University of South Dakota, Sioux Falls, SD, USA.

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April 2011

Genetic and familial factors influencing breast, colon, prostate and lung cancers.

S D Med 2010 ;Spec No:16-22

Sanford Women's Health & Sanford Children's Specialty Clinic, South Dakota, USA.

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June 2010

First-trimester genetic diagnosis: a series of six cases.

S D Med 2010 Mar;63(3):83-5

Sanford Women's Health & Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.

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March 2010

The first-trimester screen in clinical practice.

S D Med 2009 Oct;62(10):389, 392-3

Sanford School of Medicine, The University o South Dakota, USA.

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October 2009

Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism.

Fertil Steril 2008 Nov 14;90(5):2016.e11-2. Epub 2008 Sep 14.

Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota 57105, USA.

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November 2008

Premature ovarian failure: a phenotypic expression of fragile X premutation.

S D Med 2008 Jan;61(1):13, 15

Sanford School of Medicine of The University of South Dakota, USA.

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January 2008

Screening for mutations in the cystic fibrosis transmembrane regulator gene in an infertility clinic.

Fertil Steril 2007 Dec 7;88(6):1687-8. Epub 2007 May 7.

Sanford School of Medicine, Sioux Falls, South Dakota 57105, USA.

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December 2007

Newborn screening for cystic fibrosis.

S D Med 2006 Oct;59(10):429-31

South Cystic Fibrosis Center, Stanford Children's Hospital, South Dakota, USA.

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October 2006