Publications by authors named "Sandra Darilek"

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Two commonly reported incidental variants in OTC are associated with late-onset disease.
Steven H Lang, Russell S Lo, Gareth A Cromie, Aimée M Dudley, Nicholas Ah Mew, Sandra Darilek

HGG Adv· October 2025

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Family Lore, a Variant of Uncertain Significance, and CADASIL.
Rhys Duarte, Liesbeth Vossaert, Sandra A Darilek, Chelsi Rose, Evan Schauer

Am J Med Genet C Semin Med Genet· November 2024

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Telegenetics to provide comprehensive prenatal diagnosis.
April D Adams, Robert Ball, Sandra Darilek

Prenat Diagn· April 2024

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Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Jeffrey S Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine M N Akkari

Genet Med· August 2023

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Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Jeffrey S Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine M N Akkari

Genet Med· February 2023

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A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.
Joshua Manor, Daniela Dinu, Mahshid S Azamian, Weimin Bi, Sandra Darilek

Am J Med Genet A· October 2021

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The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Karen W Gripp, Lisa Schill, Lisa Schoyer, Beth Stronach, Anton M Bennett, Sandra Darilek

Am J Med Genet A· March 2020

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Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Ebba Alkhunaizi, Shirley Shuster, Patrick Shannon, Victoria Mok Siu, Sandra Darilek

Am J Med Genet A· March 2019

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Phenotypic expansion in - a common cause of intellectual disability in females.
Xia Wang, Jennifer E Posey, Jill A Rosenfeld, Carlos A Bacino, Fernando Scaglia, Sandra A Darilek

Ann Clin Transl Neurol· October 2018

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Attitudes Toward and Uptake of Prenatal Genetic Screening and Testing in Twin Pregnancies.
Kathryn M Reese, Jennifer Czerwinski, Sandra Darilek, Anthony Johnson, Malorie Jones

J Genet Couns· September 2018

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Genesurance Counseling: Patient Perspectives.
Chelsea Wagner, Lauren Murphy, Jacqueline Harkenrider, Sandra Darilek, Eleazar Soto-Torres

J Genet Couns· August 2018

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Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.
Megan Allyse, Umut Aypar, Natasha Bonhomme, Sandra Darilek, Michael Dougherty

J Womens Health (Larchmt)· July 2017

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Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.
Daryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, Valerie K Jordan, Bum Jun Kim, Sandra A Darilek

J Med Genet· January 2017

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The ethics of conducting molecular autopsies in cases of sudden death in the young.
Amy L McGuire, Quianta Moore, Mary Majumder, Magdalena Walkiewicz, Christine M Eng, Sandra Darilek

Genome Res· September 2016

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Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy.
Taylor P Kohn, Jaden R Kohn, Sandra Darilek, Ranjith Ramasamy, Larry Lipshultz

J Assist Reprod Genet· May 2016

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Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option.
Sarah Mayes, Syed Hashmi, Mark A Turrentine, Sandra Darilek, Lara A Friel

AJP Rep· March 2016

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DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.
Hsiao-Yuan Tang, Ping Fang, Jerry W Lin, Sandra Darilek, Brooke T Osborne

BMJ Open· May 2015

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Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis.
Lauren Westerfield, Sandra Darilek, Ignatia B van den Veyver

J Clin Med· September 2014

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Basic medical genetics for the otolaryngologist.
Raye L Alford, Sandra A Darilek

Adv Otorhinolaryngol· May 2011

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Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes.
Amanda C Brandt, Matthew L Tschirgi, Kaylene J Ready, Charlotte Sun, Sandra Darilek

Fam Cancer· September 2010

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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Ignatia B Van den Veyver, Ankita Patel, Chad A Shaw, Amber N Pursley, Sung-Hae L Kang, Sandra Darilek

Prenat Diagn· January 2009

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Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.
Hsiao-Yuan Tang, Monica J Basehore, Gregory L Blakey, Sandra Darilek, John S Oghalai

Am J Med Genet A· April 2008

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Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives.
Sandra Darilek, Patricia Ward, Amber Pursley, Katie Plunkett, Patti Furman

Genet Med· January 2008

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DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
Hsiao-Yuan Tang, Ping Fang, Patricia A Ward, Eric Schmitt, Sandra Darilek

Am J Med Genet A· November 2006

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Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.
Trilochan Sahoo, Sau Wai Cheung, Patricia Ward, Sandra Darilek, Ankita Patel

Genet Med· November 2006

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