Q. Stein

发表

Rare deletions at the neurexin 3 locus in autism spectrum disorder.

D. Pinto, S. Scherer, D. Collier, 2012, American journal of human genetics.

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

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

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

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Genetic Counseling in Middle School Science Club: A Pilot Study.

Elizabeth McMillan, Q. Stein, Emily R. Griese, 2019, Journal of STEM outreach.

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

Q. Stein, K. Hansen, J. Flanagan, 2007, Fertility and sterility.

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

Q. Stein, Jennifer R. Leonhard, S. Hahn, 2019, Journal of genetic counseling.

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

Q. Stein, J. Flanagan, Amelia R Mroch, 2012, Current problems in pediatric and adolescent health care.

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

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

Autism Spectrum Disorder

D. Pinto, S. Scherer, P. Bolton, 2018, Sleep in Children with Neurodevelopmental Disabilities.

Prenatally diagnosed trisomy 20 mosaicism associated with arachnoid cyst of basal cistern

Kiley J. Johnson, Q. Stein, P. Crotwell, 2008, Prenatal diagnosis.

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

C. Walsh, L. Zon, A. Munnich, 2014, American journal of human genetics.

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

Q. Stein, P. Crotwell, P. Munson, 2014, American journal of medical genetics. Part A.

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

Q. Stein, J. Flanagan, Amelia R Mroch, 2011, South Dakota medicine : the journal of the South Dakota State Medical Association.

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

Megan Bell, Q. Stein, Jennifer R. Leonhard, 2018, Journal of Genetic Counseling.

Experiences of Genetic Counselors Practicing in Rural Areas

Q. Stein, Erin Thorpe, M. Campion, 2018, Journal of Genetic Counseling.

Analysis of Reimbursement of Genetic Counseling Services at a Single Institution in a State Requiring Licensure

P. Thompson, P. Munson, Q. Stein, 2017, Journal of Genetic Counseling.

Genetic Counseling in Pediatrics

Q. Stein, R. Loman, Taylor A. Zuck, 2018, Pediatrics in Review.

Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing

J. Fish, O. Klein, A. Slavotinek, 2015, American journal of medical genetics. Part A.

Geographical analysis of the distribution of certified genetic counselors in the United States

Q. Stein, L. Erickson, Susan Puumala, 2020, Journal of genetic counseling.

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

R. Wanders, B. Andresen, N. Gregersen, 2006, Pediatric Research.

Genetic Counseling in Kidney Disease: A Perspective

Q. Stein, M. Hager, E. Hendricks, 2023, Kidney medicine.

Dual diagnosis of autosomal dominant polycystic kidney disease and sickle cell disease in a teenage male

Q. Stein, J. Deyo, Michelle S. Bloom, 2023, Pediatric Nephrology.

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

Q. Stein, J. Flanagan, 2010, South Dakota medicine : the journal of the South Dakota State Medical Association.

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

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

The State of Newborn Screening in South Dakota.

Q. Stein, Jada Boyd, Laura Davis‐Keppen, 2022, South Dakota medicine : the journal of the South Dakota State Medical Association.