Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Riggs, Erin R., Nelson, Tristan, Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin D., Collinson, Morag N., Fan, Yao‐Shan, Goodenberger, McKinsey L., Golden, Denae M., Haglund‐Hazy, Linda, Krgovic, Danijela, Lamb, Allen N., Lewis, Zoe, Li, Guang, Liu, Yajuan, Meck, Jeanne, Neufeld‐Kaiser, Whitney, Runke, Cassandra K., Sanmann, Jennifer N., Stavropoulos, Dimitri J., Strong, Emma, Su, Meng, Tayeh, Marwan K., Kokalj Vokac, Nadja, Thorland, Erik C., Andersen, Erica, Martin, Christa L.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome
Dines, Jennifer N., Liu, Yajuan J., Neufeld‐Kaiser, Whitney, Sawyer, Taylor, Ishak, Gisele E., Tully, Hannah M., Racobaldo, Melissa, Sanchez‐Valle, Amarilis, Disteche, Christine M., Juusola, Jane, Torti, Erin, McWalter, Kirsty, Doherty, Dan, Dipple, Katrina M.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Discordant sex between fetal screening and postnatal phenotype requires evaluation
Byers, Heather M, Neufeld-Kaiser, Whitney, Chang, Edith Y, Tsuchiya, Karen, Oehler, Erin S, Adam, Margaret P
Published in Journal of perinatology (01.01.2019)
Published in Journal of perinatology (01.01.2019)
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Journal Article
6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy
Cheng, Andrew, Dinulos, Mary Beth P., Neufeld‐Kaiser, Whitney, Rosenfeld, Jill, Kyriss, McKenna, Madan‐Khetarpal, Suneeta, Risheg, Hiba, Byers, Peter H., Liu, Yajuan J.
Published in American journal of medical genetics. Part A (01.07.2017)
Published in American journal of medical genetics. Part A (01.07.2017)
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Journal Article
P596: Diagnostic challenges and phenotypic variations in chimeric genome-wide maternal and paternal uniparental disomy: A prenatal and postnatal perspective
Myers, Candace, Neufeld-Kaiser, Whitney, Znoyko, Iya, Johnson, Cindy, Cheng, Edith, Jwang, Joseph, Beck, Anita, Wolff, Daynna, Liu, Yajuan
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men
Deng, Xinxian, Fang, He, Pathak, Asha, Zou, Angela M, Neufeld-Kaiser, Whitney, Malouf, Emily A, Failor, Richard A, Hisama, Fuki M, Liu, Yajuan J
Published in Frontiers in genetics (22.09.2020)
Published in Frontiers in genetics (22.09.2020)
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Characterization of a Recurrent Germ Line Mutation of the E-Cadherin Gene: Implications for Genetic Testing and Clinical Management
SURIANO, Gianpaolo, YEW, Sandie, OLIVEIRA, Maria J, MACGILLIVRAY, Barbara, RAO, Arundhati, SEARS, Dawn, JACKSON, Charles E, BOYD, Jeff, YEE, Cindy, DETERS, Carolyn, PAI, G. Shashidhar, HAMMOND, Lyn S, FERREIRA, Paulo, MCGIVERN, Bobbi J, MEDGYESY, Diane, SARTZ, Denise, ARUN, Banu, OELSCHLAGER, Brant K, UPTON, Mellisa P, NEUFELD-KAISER, Whitney, SILVA, Orlando E, DONENBERG, Talia R, KOOBY, David A, SENZ, Janine, SHARMA, Shobha, JONSSON, Bjorn-Anders, GRONBERG, Henrik, GALLINGER, Steve, SERUCA, Raquel, LYNCH, Henry, HUNTSMAN, David G, KAURAH, Pardeep, FORD, James M, LONGACRE, Teri A, NORTON, Jeffrey A, CHUN, Nicki, YOUNG, Sean
Published in Clinical cancer research (01.08.2005)
Published in Clinical cancer research (01.08.2005)
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Journal Article
Genetic Counseling Practice Analysis
Hampel, Heather, Grubs, Robin E., Walton, Carol S., Nguyen, Emma, Breidenbach, Daniel H., Nettles, Steve, Corliss, Meagan, Fox, Stephanie, Hiraki, Susan, Ku, Lisa, Neufeld-Kaiser, Whitney, Riley, Bronson, Taylor, Jamie, Weik, LuAnn
Published in Journal of genetic counseling (01.06.2009)
Published in Journal of genetic counseling (01.06.2009)
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Journal Article
GeneTests-GeneClinics: Genetic testing information for a growing audience
Pagon, Roberta A., Tarczy-Hornoch, Peter, Baskin, Patricia K., Edwards, Joseph E., Covington, Maxine L., Espeseth, Miriam, Beahler, Christine, Bird, Thomas D., Popovich, Bradley, Nesbitt, Charli, Dolan, Cynthia, Marymee, Kathi, Hanson, Nancy B., Neufeld-Kaiser, Whitney, Grohs, Gina McCullough, Kicklighter, Tracy, Abair, Cynthia, Malmin, Audin, Barclay, Matthew, Palepu, Rajasri Dharani
Published in Human mutation (01.05.2002)
Published in Human mutation (01.05.2002)
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Journal Article
11. Evaluation of Hi-C versus optical genome mapping for diagnosing constitutional genomic structural variants
Fang, He, Liu, Yajuan, Eacker, Steve, Neufeld-Kaiser, Whitney
Published in Cancer genetics (01.11.2023)
Published in Cancer genetics (01.11.2023)
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Journal Article
1 - Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X)
Risheg, Hiba, Tepperberg, Jim, Pasion, Romela, Starkey, Elizabeth, Lubben, Briana, Neufeld-Kaiser, Whitney, Liu, Yajuan J.
Published in Cancer genetics (01.05.2016)
Published in Cancer genetics (01.05.2016)
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Journal Article
Direct FISH, Cultured Chromosome Analysis, and Direct SNP Microarray Analysis in Identifying Ring Chromosomes on Prenatal Analysis: A Case of 45,X/46,X,r(X)
Risheg, Hiba, Tepperberg, Jim, Pasion, Romela, Starkey, Elizabeth, Lubben, Briana, Neufeld-Kaiser, Whitney, Liu, Yajuan J
Published in Cancer genetics (01.05.2016)
Published in Cancer genetics (01.05.2016)
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Journal Article
Intrauterine Fetal Growth Restriction and Oligohydramnios of Undetermined Etiology
Gallego, Daniel Fernando, Neufeld-Kaiser, Whitney, Weiss, Sheila, Liu, Yajuan J, Ma, Kimberly K, Fligner, Corinne L, Lockwood, Christina M
Published in The journal of applied laboratory medicine (01.03.2017)
Published in The journal of applied laboratory medicine (01.03.2017)
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Journal Article
Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients
Martin, R A, Hunter, V, Neufeld-Kaiser, W, Flodman, P, Spence, M A, Furnas, D, Martin, K A
Published in American journal of medical genetics (17.01.2000)
Published in American journal of medical genetics (17.01.2000)
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Journal Article
Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors
McKinnon, W C, Baty, B J, Bennett, R L, Magee, M, Neufeld-Kaiser, W A, Peters, K F, Sawyer, J C, Schneider, K A
Published in JAMA : the journal of the American Medical Association (15.10.1997)
Published in JAMA : the journal of the American Medical Association (15.10.1997)
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Journal Article
Genetic testing
Pagon, Roberta A, Hanson, Nancy B, Neufeld-Kaiser, Whitney, Covington, Maxine L
Published in The Western journal of medicine (01.05.2001)
Published in The Western journal of medicine (01.05.2001)
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