List of works - Quinn Stein

Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism

scientific article published on 14 September 2008

Bowen-Conradi: a common Hutterite condition that mimics trisomy 18

scientific article published on June 1, 2012

Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18.

scientific article published in September 2008

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

scientific article published on 29 January 2014

Experiences of Genetic Counselors Practicing in Rural Areas

scientific article

First-trimester genetic diagnosis: a series of six cases

scientific article published on 01 March 2010

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

scientific article published on 01 May 2015

Genesurance Counseling: Genetic Counselors' Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics.

scientific article published on 4 December 2017

Genesurance Counseling: Patient Perspectives.

scientific article published on 19 January 2018

Genetic Counseling in Pediatrics

scientific article published on 01 July 2018

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

scientific article published on January 2010

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

article

Identification of a founder mutation for maple syrup urine disease in Hutterites

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

scientific journal article

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

scientific article

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

scientific article published on 13 February 2018

Newborn screening for cystic fibrosis

scientific article published on 01 October 2006

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

scientific article published in January 2008

Preventing birth defects with folic acid

scientific article published on 01 September 2002

Rare deletions at the neurexin 3 locus in autism spectrum disorder

scientific article

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

scientific article published on 07 May 2007

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

scientific article

The influential role of genes in obesity

scientific article published on 01 January 2011

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

scientific article published on 01 April 2011

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

scientific article published on 20 July 2006

List of works by Quinn Stein

Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism

Bowen-Conradi: a common Hutterite condition that mimics trisomy 18

Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18.

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

Experiences of Genetic Counselors Practicing in Rural Areas

First-trimester genetic diagnosis: a series of six cases

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

Genesurance Counseling: Genetic Counselors' Roles and Responsibilities in Regards to Genetic Insurance and Financial Topics.

Genesurance Counseling: Patient Perspectives.

Genetic Counseling in Pediatrics

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

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

Identification of a founder mutation for maple syrup urine disease in Hutterites

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

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

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Newborn screening for cystic fibrosis

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

Preventing birth defects with folic acid

Rare deletions at the neurexin 3 locus in autism spectrum disorder

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

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

The influential role of genes in obesity

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

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening