S. Klugman

发表

Clinical utility of chromosomal microarray analysis in prenatal diagnosis: report of first 6 months in clinical practice

Siobhan M. Dolan, I. Merkatz, S. Dolan, 2014, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Chromosomal abnormalities not currently detected by cell-free fetal DNA: a retrospective analysis at a single center.

S. Klugman, H. Shani, T. Goldwaser, 2016, American journal of obstetrics and gynecology.

Experiences from a pilot program bringing BRCA1/2 genetic screening to theUS Ashkenazi Jewish population

N. Schreiber-Agus, S. Klugman, Chana Wiesman, 2016, Genetics in Medicine.

Pregnancy Loss Rates After Midtrimester Amniocentesis

F. Malone, C. Comstock, G. Saade, 2006, Obstetrics and gynecology.

Impact of Maternal Age on Obstetric Outcome

F. Malone, R. Ball, D. Nyberg, 2005, Obstetrics and gynecology.

Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation

Yongzhao Shao, Harry Ostrer, H. Ostrer, 2013, Human Genetics.

Impact of introducing cell‐free DNA screening into clinical care on first trimester ultrasound

S. Klugman, P. Dar, G. Doulaveris, 2022, Prenatal diagnosis.

Cell-free DNA screening for trisomies 21, 18 and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation.

S. Haeri, F. Malone, M. Rabinowitz, 2022, American journal of obstetrics and gynecology.

Cancer Risk C (CR-C), a functional genomics test is a sensitive and rapid test for germline mismatch repair deficiency.

H. Ostrer, S. Gallinger, P. Newcomb, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Ashkenazi Jewish screening in the twenty-first century.

S. Klugman, S. Gross, 2010, Obstetrics and gynecology clinics of North America.

First- and Second-Trimester Screening: Detection of Aneuploidies Other Than Down Syndrome

F. Malone, D. Nyberg, C. Comstock, 2007, Obstetrics and gynecology.

Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series

Naomi Yachelevich, S. Nolin, S. Brooks, 2011, American journal of medical genetics. Part A.

Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells

H. Ostrer, K. Onel, D. Tegay, 2022, HGG advances.

Health care professionals’ attitudes toward cancer gene panel testing

H. Ostrer, B. Arun, F. Schnabel, 2021, The breast journal.

Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes

N. Schreiber-Agus, S. Klugman, K. Bajaj, 2011, Prenatal diagnosis.

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

M. Watson, J. Benkendorf, B. Skotko, 2016, Genetics in Medicine.

Counseling patients on reproductive aging and elective fertility preservation—a survey of obstetricians and gynecologists’ experience, approach, and knowledge

J. Schulkin, S. Klugman, E. Buyuk, 2018, Journal of Assisted Reproduction and Genetics.

Sibling and self ovum donation for sisters with an intermediate FMR1 mutation: what's a program to do?

E. A. Rybak, N. Santoro, S. Klugman, 2009, Fertility and sterility.

Chromosomal microarray versus karyotyping for prenatal diagnosis.

D. Ledbetter, L. Shaffer, Ankita Patel, 2012, The New England journal of medicine.

Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells

H. Ostrer, A. Pearlman, Y. Shao, 2017, Genetics in Medicine.

Chromosomal microarray in prenatal diagnosis: case studies and clinical challenges.

Siobhan M. Dolan, S. Dolan, S. Klugman, 2016, Personalized medicine.

Expanded Genetic Testing in Assisted Reproduction: Lessons Learned from Prenatal Testing

Susan D. Klugman, Siobhan M. Dolan, S. Dolan, 2014 .

Early Access to Prenatal Care: Implications for Racial Disparity in Perinatal Mortality

F. Malone, C. Comstock, G. Saade, 2006, Obstetrics and gynecology.

Chromosomal microarray versus karyotyping for prenatal diagnosis

D. Ledbetter, L. Shaffer, Ankita Patel, 2013 .

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

N. Leach, A. Rajkovic, T. Sparks, 2021, Genetics in Medicine.

Patient Perspectives on Intimate Partner Violence Discussion during Genetic Counseling Sessions

S. Klugman, K. Bajaj, A. Greb, 2017, Journal of Genetic Counseling.

Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing.

N. Schreiber-Agus, Shivani Nazareth, E. A. Evans, 2013, Genetic testing and molecular biomarkers.

Ethnicity-Based Carrier Screening.

S. Klugman, Jennifer R. King, J. King, 2018, Obstetrics and gynecology clinics of North America.

Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase

N. Schreiber-Agus, S. Klugman, K. Bajaj, 2016, Journal of Genetic Counseling.

Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze.

N. Schreiber-Agus, A. Gregg, S. Klugman, 2014, American journal of obstetrics and gynecology.

Best practices: antenatal screening for common genetic conditions other than aneuploidy

S. Klugman, K. Ram, 2010, Current opinion in obstetrics & gynecology.

First‐ and second‐trimester Down syndrome screening markers in pregnancies achieved through assisted reproductive technologies (ART): a FASTER trial study

R. Ball, D. Nyberg, C. Comstock, 2006, Prenatal diagnosis.

First‐ and second‐trimester Down syndrome screening markers in pregnancies achieved through assisted reproductive technologies (ART): a FASTER trial study

F. Malone, R. Ball, D. Nyberg, 2006, Prenatal diagnosis.

Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome

M. Lindsay, A. Lin, S. Klugman, 2019, American journal of medical genetics. Part A.

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).

Y. Akkari, K. Monaghan, J. Malinowski, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Pregnancy loss rates after midtrimester amniocentesis: the faster trial

F. Malone, C. Comstock, G. Saade, 2003 .

The training of future clinical geneticists: Evaluation and reflection on the American College of Medical Genetics and Genomics Foundation Summer Genetics Scholars Program

M. Blitzer, S. Klugman, Carly E. Blatt, 2021, Genetics in Medicine.

Prenatal Sonographic Diagnosis of Grebe Syndrome

D. Cordero, S. Klugman, P. Tsipouras, 2006, Journal of ultrasound in medicine.

Cell-free DNA for the detection of fetal aneuploidy.

S. Klugman, T. Goldwaser, 2018, Fertility and sterility.

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations

B. Skotko, A. Gregg, S. Klugman, 2019, Genetics in Medicine.

From Campers to Counselors: a Resource for Prospective Genetic Counseling Students

N. Schreiber-Agus, S. Klugman, Chana Wiesman, 2016, Journal of Genetic Counseling.

Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG)

G. Jarvik, A. L. La Spada, T. Pal, 2019, Genetics in Medicine.

Patient attitudes toward prenatal diagnostic testing during antenatal care in an urban population

M. Fazzari, S. Klugman, G. Doulaveris, 2021, Prenatal diagnosis.

Single-cell analysis of somatic mutation burden in mammary epithelial cells of pathogenic BRCA1/2 mutation carriers

B. Park, J. Vijg, C. Montagna, 2022, The Journal of clinical investigation.

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

W. Foulkes, J. Ngeow, T. Pal, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation

H. Ostrer, E. John, I. Andrulis, 2013, Human Genetics.

Y. Akkari, K. Monaghan, J. Malinowski, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

ACOG COMMITTEE OPINION

S. Klugman, Susan Klugman, 2022 .

Noninvasive Prenatal Screening for Single-Gene Disorders

S. Klugman, Zenobia T. Gonsalves, 2023, Clinical obstetrics and gynecology.

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations

B. Skotko, A. Gregg, S. Klugman, 2019, Genetics in Medicine.

IVF COVERAGE IN MANDATED VS. NON-MANDATED STATES ALLOWS FOR HIGHER LIVE BIRTH RATES BUT NOT INCREASED USAGE OF PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDY (PGT-A)

S. Klugman, S. Jindal, H. Lieman, 2021, Fertility and Sterility.

Preimplantation Genetic Testing: ACOG Committee Opinion Summary, Number 799.

S. Klugman, 2020, Obstetrics and gynecology.