Publications:
A selected list of publications:
Palomaki Glenn E, Deciu Cosmin, Kloza Edward M, Lambert-Messerlian Geralyn M, Haddow James E, Neveux Louis M, Ehrich Mathias, van den Boom Dirk, Bombard Allan T, Grody Wayne W, Nelson Stanley F, Canick Jacob A
DNA sequencing of maternal plasma reliably identifies trisomy 18 and
trisomy 13 as well as Down syndrome: an international collaborative
study
Genetics in medicine : official journal of the American College of Medical Genetics,
2012; 14(3):
296-305.
Green Robert C, Berg Jonathan S, Berry Gerard T, Biesecker Leslie G, Dimmock David P, Evans James P, Grody Wayne W, Hegde Madhuri R, Kalia Sarah, Korf Bruce R, Krantz Ian, McGuire Amy L, Miller David T, Murray Michael F, Nussbaum Robert L, Plon Sharon E, Rehm Heidi L, Jacob Howard J
Exploring concordance and discordance for return of incidental
findings from clinical sequencing
Genetics in medicine : official journal of the American College of Medical Genetics,
2012; 14(4):
405-10.
Patrinos George P, Smith Timothy D, Howard Heather, Al-Mulla Fahd, Chouchane Lotfi, Hadjisavvas Andreas, Hamed Sherifa A, Li Xi-Tao, Marafie Makia, Ramesar Rajkumar S, Ramos Feliciano J, de Ravel Thomy, El-Ruby Mona O, Shrestha Tilak Ram, Sobrido MarÃa-Jesús, Tadmouri Ghazi, Witsch-Baumgartner Martina, Zilfalil Bin Alwi, Auerbach Arleen D, Carpenter Kevin, Cutting Garry R, Dung Vu Chi, Grody Wayne, Hasler Julia, Jorde Lynn, Kaput Jim, Macek Milan, Matsubara Yoichi, Padilla Carmancita, Robinson Helen, Rojas-Martinez Augusto, Taylor Graham R, Vihinen Mauno, Weber Tom, Burn John, Qi Ming, Cotton Richard G H, Rimoin David, Rimoin David
Human Variome Project country nodes: documenting genetic information
within a country
Human mutation,
2012; 33(11):
1513-9.
Schrijver Iris, Aziz Nazneen, Farkas Daniel H, Furtado Manohar, Gonzalez Andrea Ferreira, Greiner Timothy C, Grody Wayne W, Hambuch Tina, Kalman Lisa, Kant Jeffrey A, Klein Roger D, Leonard Debra G B, Lubin Ira M, Mao Rong, Nagan Narasimhan, Pratt Victoria M, Sobel Mark E, Voelkerding Karl V, Gibson Jane S
Opportunities and challenges associated with clinical diagnostic
genome sequencing: a report of the Association for Molecular
Pathology
The Journal of molecular diagnostics : JMD,
2012; 14(6):
525-40.
Ong Frank S, Das Kingshuk, Wang Jay, Vakil Hana, Kuo Jane Z, Blackwell Wendell-Lamar B, Lim Stephen W, Goodarzi Mark O, Bernstein Kenneth E, Rotter Jerome I, Grody Wayne W
Personalized medicine and pharmacogenetic biomarkers: progress in
molecular oncology testing
Expert review of molecular diagnostics,
2012; 12(6):
593-602.
Palomaki Glenn E, Kloza Edward M, Lambert-Messerlian Geralyn M, Haddow James E, Neveux Louis M, Ehrich Mathias, van den Boom Dirk, Bombard Allan T, Deciu Cosmin, Grody Wayne W, Nelson Stanley F, Canick Jacob A
DNA sequencing of maternal plasma to detect Down syndrome: an
international clinical validation study
Genetics in medicine : official journal of the American College of Medical Genetics,
2011; 13(11):
913-20.
Castellani Carlo, Macek Milan, Cassiman Jean-Jacques, Duff Alistair, Massie John, ten Kate Leo P, Barton David, Cutting Garry, Dallapiccola Bruno, Dequeker Elisabeth, Girodon Emmanuelle, Grody Wayne, Highsmith Edward W, Kääriäinen Helenal, Kruip Stephan, Morris Michael, Pignatti Pier Franco, Pypops Ulrike, Schwarz Martin, Soller Maria, Stuhrman Manfred, Cuppens Harry
Benchmarks for cystic fibrosis carrier screening: a European consensus
document
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society,
2010; 9(3):
165-78.
Boudreault Patrick, Baldwin Erin E, Fox Michelle, Dutton Loriel, Tullis Leeelle, Linden Joyce, Kobayashi Yoko, Zhou Jin, Sinsheimer Janet S, Sininger Yvonne, Grody Wayne W, Palmer Christina G S
Deaf adults' reasons for genetic testing depend on cultural
affiliation: results from a prospective, longitudinal genetic
counseling and testing study
Journal of deaf studies and deaf education,
2010; 15(3):
209-27.
Barker Shannon D, Bale Sherri, Booker Jessica, Buller Arlene, Das Soma, Friedman Kenneth, Godwin Andrew K, Grody Wayne W, Highsmith Edward, Kant Jeffery A, Lyon Elaine, Mao Rong, Monaghan Kristin G, Payne Deborah A, Pratt Victoria M, Schrijver Iris, Shrimpton Antony E, Spector Elaine, Telatar Milhan, Toji Lorraine, Weck Karen, Zehnbauer Barbara, Kalman Lisa V
Development and characterization of reference materials for MTHFR,
SERPINA1, RET, BRCA1, and BRCA2 genetic testing
The Journal of molecular diagnostics : JMD,
2009; 11(6):
553-61.
Gau Chia-Ling, Rosenblatt Robin A, Cerullo Vincenzo, Lay Fides D, Dow Adrienne C, Livesay Justin, Brunetti-Pierri Nicola, Lee Brendan, Cederbaum Stephen D, Grody Wayne W, Lipshutz Gerald S
Short-term correction of arginase deficiency in a neonatal murine
model with a helper-dependent adenoviral vector
Molecular therapy : the journal of the American Society of Gene Therapy,
2009; 17(7):
1155-63.
Mumenthaler, S.M., H. Yu, S. Tze, S.D. Cederbaum, A.E. Pegg, D.B. Seligson and W.W. Grody.
. Differential expression of arginase II in androgen-dependent versus androgen-independent prostate cancer,
Int. J. Oncol,
2008; 32:
357-365..
Schimmenti Lisa A, Martinez Ariadna, Telatar Milhan, Lai Chih-Hung, Shapiro Nina, Fox Michelle, Warman Berta, McCarra Matthew, Crandall Barbara, Sininger Yvonne, Grody Wayne W, Palmer Christina G S
Infant hearing loss and connexin testing in a diverse population
Genetics in medicine : official journal of the American College of Medical Genetics,
2008; 10(7):
517-24.
Deignan Joshua L, Livesay Justin C, Shantz Lisa M, Pegg Anthony E, O'Brien William E, Iyer Ramaswamy K, Cederbaum Stephen D, Grody Wayne W
Polyamine homeostasis in arginase knockout mice
American journal of physiology. Cell physiology,
2007; 293(4):
C1296-301.
Elshimali, Y., Grody, W.W.
Clinical significance of circulating tumor cells in the peripheral blood,
Diagn. Molec. Pathol,
2006; 15:
187-194.
Ramsden Simon C, Deans Zandra, Robinson David O, Mountford Roger, Sistermans Erik A, Grody Wayne W, McQuaid Shirley, Patton Simon J, Stenhouse Susan A R
Monitoring standards for molecular genetic testing in the United
Kingdom, the Netherlands, and Ireland
Genetic testing,
2006; 10(3):
147-56.
Watson Michael S, Cutting Garry R, Desnick Robert J, Driscoll Deborah A, Klinger Katherine, Mennuti Michael, Palomaki Glenn E, Popovich Bradley W, Pratt Victoria M, Rohlfs Elizabeth M, Strom Charles M, Richards C Sue, Witt David R, Grody Wayne W
Cystic fibrosis population carrier screening: 2004 revision of
American College of Medical Genetics mutation panel
Genetics in medicine : official journal of the American College of Medical Genetics,
2005; 6(5):
387-91.
Chen Bin, O' Connell Catherine D, Boone D Joe, Amos Jean A, Beck Jeanne C, Chan Maria M, Farkas Daniel H, Lebo Roger V, Richards Carolyn Sue, Roa Benjamin B, Silverman Lawrence M, Barton David E, Bejjani Bassem A, Belloni Dorothy R, Bernacki Susan H, Caggana Michele, Charache Patricia, Dequeker Elisabeth, Ferreira-Gonzalez Andrea, Friedman Kenneth J, Greene Carol L, Grody Wayne W, Highsmith William Edward, Hinkel Cecelia S, Kalman Lisa V, Lubin Ira M, Lyon Elaine, Payne Deborah A, Pratt Victoria M, Rohlfs Elizabeth, Rundell Clark A, Schneider Erasmus, Willey Ann M, Williams Laurina O, Willey James C, Winn-Deen Emily S, Wolff Daynna J
Developing a sustainable process to provide quality control materials
for genetic testing
Genetics in medicine : official journal of the American College of Medical Genetics,
2005; 7(8):
534-49.
Spector Elaine B, Grody Wayne W, Matteson Carla J, Palomaki Glenn E, Bellissimo Daniel B, Wolff Daynna J, Bradley Linda A, Prior Thomas W, Feldman Gerald, Popovich Bradley W, Watson Michael S, Richards C Sue
Technical standards and guidelines: venous thromboembolism (Factor V
Leiden and prothrombin 20210G >A testing): a disease-specific
supplement to the standards and guidelines for clinical genetics
laboratories
Genetics in medicine : official journal of the American College of Medical Genetics,
2005; 7(6):
444-53.
Ojino, S, R.B. Wilson, B. Gold, P. Hawley and W.W. Grody.
Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening,
Genet. Med,
2004; 6:
439-449.
Venegas, P.B., J.M. Novak, O.A. Castro, F.L. Sanchez, I.G. Gutierrez, R.M. Julio, M.F. Jenny, R.M. Gonzalez, J.P. Salas and W.W. Grody.
CFTR mutations in Costa Rica,
Hum. Biol. ,
2003; 75:
179-188.
Venegas Patricia B, Novak Jessica M, Oscar Castro A, Sánchez Félix L, Gutiérrez Inés G, Rivera Julio M, Salas Jorge P, Montero Jenny F, Grody Wayne W
Cystic fibrosis mutations in Costa Rica
Human biology,
2003; 75(2):
179-88.
Richards Carolyn Sue, Bradley Linda A, Amos Jean, Allitto Bernice, Grody Wayne W, Maddalena Anne, McGinnis Matthew J, Prior Thomas W, Popovich Bradley W, Watson Michael S, Palomaki Glenn E
Standards and guidelines for CFTR mutation testing
Genetics in medicine : official journal of the American College of Medical Genetics,
2003; 4(5):
379-91.
Iyer Ramaswamy K, Yoo Paul K, Kern Rita M, Rozengurt Nora, Tsoa Rosemarie, O'Brien William E, Yu Hong, Grody Wayne W, Cederbaum Stephen D
Mouse model for human arginase deficiency
Molecular and cellular biology,
2002; 22(13):
4491-8.
Grody WW, Griffin JH, Taylor AK, Korf BR, Heit JA
American College of Medical Genetics consensus statement on factor V Leiden mutation testing,
Genet. Med,
2001; 3:
139-148.
Grody WW
Cystic fibrosis: Molecular diagnosis, population screening, and public policy,
Arch. Pathol. Lab. Med,
1999; 123:
1041-1046.
Grody, W.W. and R.E. Pyeritz
Report card on molecular genetic testing: Room for improvement? ,
JAMA,
1999; 281:
845-847.
Grody, W.W., R.J. Desnick, N.J. Carpenter and W.W. Noll
Diversity of cystic fibrosis mutation screening practices,
Am. J. Hum. Genet,
1998; 62:
1252-1254.
Grody, WW
Molecular pathology, informed consent, and the paraffin block,
Diagn. Mol. Pathol,
1995; 4:
155-157.
Goodman BK, Tabor DE, Kern RM, Vockley JG, Wissmann PB, Cederbaum SD, Grody WW
Functional analysis of the liver arginase promotor and adjacent 5' flanking sequences from man and Macaca fascicularis,
Som. Cell Molec. Genet,
1994; 20:
313-325.