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S. Darilek · SciRah

Researcher profile · Semantic Scholar

S. Darilek

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S. Darilek — researcher profile on SciRah

h-index: 15
Works: 36
Citations: 1,223

Most-cited papers

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
I. B. Van den Veyver, Ankita Patel, C. Shaw, A. Pursley +12 more
2009Prenatal Diagnosis201 citations Open access
Semantic Scholar
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).
J. Dungan, S. Klugman, S. Darilek, Jennifer R. Malinowski +4 more
2022Genetics in Medicine197 citations Open access
Semantic Scholar
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
T. Sahoo, Sau W. Cheung, P. Ward, S. Darilek +14 more
2006Genetics in Medicine164 citations Open access
Semantic Scholar
Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives
S. Darilek, P. Ward, Amber Pursley, Katie S. Plunkett +5 more
2008Genetics in Medicine87 citations Open access
Semantic Scholar
Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis
L. Westerfield, S. Darilek, I. B. Van den Veyver
2014Journal of Clinical Medicine80 citations Open access
Semantic Scholar
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
Xia Wang, J. Posey, J. Rosenfeld, C. Bacino +41 more
2018bioRxiv76 citations Open access
Semantic Scholar
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, P. Fang, P. Ward, E. Schmitt +5 more
2006American Journal of Medical Genetics. Part A72 citations Open access
Semantic Scholar
Hereditary Multiple Exostosis and Pain
S. Darilek, C. Wicklund, Diane M. Novy, A. Scott +3 more
2005Journal of pediatric orthopedics66 citations
Semantic Scholar
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).
J. Dungan, S. Klugman, S. Darilek, Jennifer R. Malinowski +4 more
2023Genetics in Medicine41 citations
Semantic Scholar
Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes
Amanda Brandt, Matthew L Tschirgi, K. Ready, Charlotte C. Sun +4 more
2010Familial Cancer34 citations
Semantic Scholar
The sixth international RASopathies symposium: Precision medicine–From promise to practice
K. Gripp, Lisa Schill, Lisa Schoyer, Beth Stronach +42 more
2019American Journal of Medical Genetics. Part A32 citations Open access
Semantic Scholar
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
D. Scott, A. Hernandez-Garcia, M. Azamian, Valerie K. Jordan +14 more
2016Journal of Medical Genetics32 citations
Semantic Scholar
Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy
T. Kohn, J. Kohn, S. Darilek, R. Ramasamy +1 more
2016Journal of Assisted Reproduction and Genetics28 citations Open access
Semantic Scholar
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum
Ebba Alkhunaizi, S. Shuster, P. Shannon, V. Siu +11 more
2019American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
The ethics of conducting molecular autopsies in cases of sudden death in the young
A. McGuire, Quianta Moore, M. Majumder, M. Walkiewicz +12 more
2016Genome Research20 citations Open access
Semantic Scholar
Genesurance Counseling: Patient Perspectives
Chelsea Wagner, Lauren Murphy, Jacqueline Harkenrider, S. Darilek +3 more
2018Journal of Genetic Counseling13 citations Open access
Semantic Scholar
Attitudes Toward and Uptake of Prenatal Genetic Screening and Testing in Twin Pregnancies
Kathryn M Reese, Jennifer L. Czerwinski, S. Darilek, Anthony Johnson +2 more
2018Journal of Genetic Counseling10 citations Open access
Semantic Scholar
DNA sequence analysis and genotype–phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy
Hsiao-Yuan Tang, P. Fang, Jerry W. Lin, S. Darilek +6 more
2015BMJ Open10 citations Open access
Semantic Scholar
Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide
M. Allyse, U. Aypar, Natasha Bonhomme, S. Darilek +14 more
2017Journal of Women's Health9 citations
Semantic Scholar
Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option
S. Mayes, S. Hashmi, M. Turrentine, S. Darilek +2 more
2015American Journal of Perinatology Reports8 citations Open access
Semantic Scholar
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature
J. Manor, D. Dinu, M. Azamian, W. Bi +2 more
2021American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
267: Pregnancy outcome following transfer of an aneuploid embryo
S. Darilek, Salma A. Nassef, S. Huguenard
20184 citations Open access
Semantic Scholar
Infrequency of two deletion mutations at the DFNB1 locus in patients and controls
Hsiao-Yuan Tang, Monica J. Basehore, Gregory L. Blakey, S. Darilek +4 more
2008American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
Telegenetics to provide comprehensive prenatal diagnosis
April D. Adams, Robert Ball, S. Darilek
2024Prenatal Diagnosis3 citations
Semantic Scholar
Basic medical genetics for the otolaryngologist.
R. Alford, S. Darilek
2011Advances in Oto-Rhino-Laryngology2 citations
Semantic Scholar
Corrigendum to “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” Am J Med Genet Part A 140A:2401–2415
Hsiao-Yuan Tang, P. Fang, P. Ward, E. Schmitt +5 more
20082 citations Open access
Semantic Scholar
601: Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis
Sau W. Cheung, C. Shaw, S. Kang, Marcia J. Simovich +9 more
20071 citations
Semantic Scholar
P741: Uncovering incidental parental chromosomal abnormalities through preimplantation genetic testing for aneuploidy
Roni Zemet Lazar, Ashley Spector, H. Ciomperlik, Laurie J. McKenzie +3 more
2026Genetics in Medicine Open0 citations Open access
Semantic Scholar
Family Lore, a Variant of Uncertain Significance, and CADASIL
Rhys Duarte, Liesbeth Vossaert, S. Darilek, Chelsi Rose +6 more
2024American Journal of Medical Genetics. Part C, Seminars in Medical Genetics0 citations Open access
Semantic Scholar
P605: Clinically significant parental diagnosis as an incidental finding from prenatal genetic testing
Daniel Brooks, Roni Zemet Lazar, S. Darilek, Grant Bonesteele +3 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
INFLUENCING FACTORS AND PATIENT DECISIONS REGARDING MOSAIC AND ANEUPLOID EMBRYO TRANSFER
Shelby Neal, Erin C. Peckham Gregory, Andrea Moon, S. Scollon +2 more
2023Fertility and Sterility0 citations
Semantic Scholar
SIDE EFFECTS: WHEN PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A) Results LEAD TO DISCOVERY OF AN UNEXPECTED CHROMOSOME ABNORMALITY IN A PATIENT
S. Darilek, J. Skorupski, Jason Grifffith, C. Witz
2021Fertility and Sterility0 citations Open access
Semantic Scholar
Preconception and prenatal care
S. Darilek, S. Huguenard, I. B. Van den Veyver
2020Handbook of Clinical Adult Genetics and Genomics0 citations
Semantic Scholar
The Genetics of Hereditary Multiple Exostoses
S. Darilek, J. Hecht
20080 citations
Semantic Scholar
The Genetics of Hereditary Multiple Exostosis ( HME )
S. Darilek, J. Hecht
20060 citations
Semantic Scholar
Contents Vol. 114, 2006
C. Kashork, A. Theisen, B. Bejjani, L. Shaffer +150 more
2006Cytogenetic and Genome Research0 citations
Semantic Scholar

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