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1.

Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.

Bellair, Michelle; Amaral, Elisabete; Ouren, Mason; Roark, Cameron; Kim, Jaeweon; O'Connor, April; Soriano, Adrianna; Schindler, Margaret L; Wapner, Ronald J; Stone, Joanne L; Tavella, Nicola; Merriam, Audrey; Perley, Lauren; Breman, Amy M; Beaudet, Arthur L.

Prenat Diagn ; 44(3): 304-316, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38411249

2.

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.

Vossaert, Liesbeth; Wang, Qun; Salman, Roseen; McCombs, Anne K; Patel, Vipulkumar; Qu, Chunjing; Mancini, Michael A; Edwards, Dean P; Malovannaya, Anna; Liu, Pengfei; Shaw, Chad A; Levy, Brynn; Wapner, Ronald J; Bi, Weimin; Breman, Amy M; Van den Veyver, Ignatia B; Beaudet, Arthur L.

Am J Hum Genet ; 105(6): 1262-1273, 2019 12 05.

Artículo en Inglés | MEDLINE | ID: mdl-31785788

3.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Aref-Eshghi, Erfan; Bend, Eric G; Colaiacovo, Samantha; Caudle, Michelle; Chakrabarti, Rana; Napier, Melanie; Brick, Lauren; Brady, Lauren; Carere, Deanna Alexis; Levy, Michael A; Kerkhof, Jennifer; Stuart, Alan; Saleh, Maha; Beaudet, Arthur L; Li, Chumei; Kozenko, Maryia; Karp, Natalya; Prasad, Chitra; Siu, Victoria Mok; Tarnopolsky, Mark A; Ainsworth, Peter J; Lin, Hanxin; Rodenhiser, David I; Krantz, Ian D; Deardorff, Matthew A; Schwartz, Charles E; Sadikovic, Bekim.

Am J Hum Genet ; 104(4): 685-700, 2019 04 04.

Artículo en Inglés | MEDLINE | ID: mdl-30929737

4.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage, Lindsay C; Reynolds, John J; Baratang, Nissan Vida; Phillips, Jennifer B; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R; Christiansen, Audrey E; Lanza, Denise G; Seavitt, John R; Jain, Mahim; Li, Xiaohui; Parry, David A; Raman, Vandana; Chitayat, David; Chinn, Ivan K; Bertuch, Alison A; Karaviti, Lefkothea; Schlesinger, Alan E; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N; Eng, Christine M; Gibbs, Richard A; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E; Beaudet, Arthur L; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valérie; Shen, Wei; Mao, Rong; Heaney, Jason D; Orange, Jordan S; Bertola, Débora; Yamamoto, Guilherme L; Baratela, Wagner A R; Butler, Merlin G; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H; Krakow, Deborah; Jackson, Andrew P.

Am J Hum Genet ; 104(3): 422-438, 2019 03 07.

Artículo en Inglés | MEDLINE | ID: mdl-30773277

5.

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.

Meng, Linyan; Ward, Amanda J; Chun, Seung; Bennett, C Frank; Beaudet, Arthur L; Rigo, Frank.

Nature ; 518(7539): 409-12, 2015 Feb 19.

Artículo en Inglés | MEDLINE | ID: mdl-25470045

6.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Baglaj, Maciej; Bofferding, Leon; Bosanko, Katherine B; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D; Harr, Margaret H; Heck, Sandra; Hurst, Anna C E; Jhangiani, Shalini N; Isidor, Bertrand; Littlejohn, Rebecca O; Liu, Pengfei; Magoulas, Pilar; Mar Fan, Helen; Marom, Ronit; McLean, Scott; Nezarati, Marjan M; Nugent, Kimberly M; Petersen, Michael B; Rocha, Maria L; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O; Posey, Jennifer E; Lupski, James R; Beaudet, Arthur L; Wangler, Michael F.

Hum Mutat ; 41(3): 641-654, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31769566

7.

Darwin Comes to Clinic.

Beaudet, Arthur L.

Trends Genet ; 33(1): 1-2, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-27908673

8.

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Halim, Danny; Brosens, Erwin; Muller, Françoise; Wangler, Michael F; Beaudet, Arthur L; Lupski, James R; Akdemir, Zeynep H Coban; Doukas, Michael; Stoop, Hans J; de Graaf, Bianca M; Brouwer, Rutger W W; van Ijcken, Wilfred F J; Oury, Jean-François; Rosenblatt, Jonathan; Burns, Alan J; Tibboel, Dick; Hofstra, Robert M W; Alves, Maria M.

Am J Hum Genet ; 101(1): 123-129, 2017 Jul 06.

Artículo en Inglés | MEDLINE | ID: mdl-28602422

9.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

Posey, Jennifer E; Harel, Tamar; Liu, Pengfei; Rosenfeld, Jill A; James, Regis A; Coban Akdemir, Zeynep H; Walkiewicz, Magdalena; Bi, Weimin; Xiao, Rui; Ding, Yan; Xia, Fan; Beaudet, Arthur L; Muzny, Donna M; Gibbs, Richard A; Boerwinkle, Eric; Eng, Christine M; Sutton, V Reid; Shaw, Chad A; Plon, Sharon E; Yang, Yaping; Lupski, James R.

N Engl J Med ; 376(1): 21-31, 2017 01 05.

Artículo en Inglés | MEDLINE | ID: mdl-27959697

10.

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.

Yuan, Bo; Wang, Lei; Liu, Pengfei; Shaw, Chad; Dai, Hongzheng; Cooper, Lance; Zhu, Wenmiao; Anderson, Stephanie A; Meng, Linyan; Wang, Xia; Wang, Yue; Xia, Fan; Xiao, Rui; Braxton, Alicia; Peacock, Sandra; Schmitt, Eric; Ward, Patricia A; Vetrini, Francesco; He, Weimin; Chiang, Theodore; Muzny, Donna; Gibbs, Richard A; Beaudet, Arthur L; Breman, Amy M; Smith, Janice; Cheung, Sau Wai; Bacino, Carlos A; Eng, Christine M; Yang, Yaping; Lupski, James R; Bi, Weimin.

Genet Med ; 22(10): 1633-1641, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32576985

11.

The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell-based noninvasive prenatal testing.

Panchalee, Tachjaree; Vossaert, Liesbeth; Wang, Qun; Crovetti, Brielle R; McCombs, Anne K; Wapner, Ronald J; Van den Veyver, Ignatia B; Beaudet, Arthur L.

Prenat Diagn ; 40(11): 1383-1389, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32452065

12.

Memorial: William E. O'Brien, Ph.D.

Elsea, Sarah H; Beaudet, Arthur L.

Mol Genet Metab ; 142(1): 108435, 2024 Mar 25.

Artículo en Inglés | MEDLINE | ID: mdl-38531185

13.

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.

Mohan, K Naga; Cao, Ye; Pham, Justin; Cheung, Sau Wai; Hoffner, Lori; Ou, Z Zishuo; Surti, Urvashi; Cook, Edwin H; Beaudet, Arthur L.

J Hum Genet ; 64(3): 253-255, 2019 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-30542208

14.

Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.

Beaudet, Arthur L.

Bioessays ; 39(8)2017 08.

Artículo en Inglés | MEDLINE | ID: mdl-28703319

15.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

Gambin, Tomasz; Akdemir, Zeynep C; Yuan, Bo; Gu, Shen; Chiang, Theodore; Carvalho, Claudia M B; Shaw, Chad; Jhangiani, Shalini; Boone, Philip M; Eldomery, Mohammad K; Karaca, Ender; Bayram, Yavuz; Stray-Pedersen, Asbjørg; Muzny, Donna; Charng, Wu-Lin; Bahrambeigi, Vahid; Belmont, John W; Boerwinkle, Eric; Beaudet, Arthur L; Gibbs, Richard A; Lupski, James R.

Nucleic Acids Res ; 45(4): 1633-1648, 2017 02 28.

Artículo en Inglés | MEDLINE | ID: mdl-27980096

16.

Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles.

Lanza, Denise G; Gaspero, Angelina; Lorenzo, Isabel; Liao, Lan; Zheng, Ping; Wang, Ying; Deng, Yu; Cheng, Chonghui; Zhang, Chuansheng; Seavitt, John R; DeMayo, Francesco J; Xu, Jianming; Dickinson, Mary E; Beaudet, Arthur L; Heaney, Jason D.

BMC Biol ; 16(1): 69, 2018 06 21.

Artículo en Inglés | MEDLINE | ID: mdl-29925370

17.

Gene-targeting pharmaceuticals for single-gene disorders.

Beaudet, Arthur L; Meng, Linyan.

Hum Mol Genet ; 25(R1): R18-26, 2016 Apr 15.

Artículo en Inglés | MEDLINE | ID: mdl-26628634

18.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Burrage, Lindsay C; Charng, Wu-Lin; Eldomery, Mohammad K; Willer, Jason R; Davis, Erica E; Lugtenberg, Dorien; Zhu, Wenmiao; Leduc, Magalie S; Akdemir, Zeynep C; Azamian, Mahshid; Zapata, Gladys; Hernandez, Patricia P; Schoots, Jeroen; de Munnik, Sonja A; Roepman, Ronald; Pearring, Jillian N; Jhangiani, Shalini; Katsanis, Nicholas; Vissers, Lisenka E L M; Brunner, Han G; Beaudet, Arthur L; Rosenfeld, Jill A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Xia, Fan; Lalani, Seema R; Lupski, James R; Bongers, Ernie M H F; Yang, Yaping.

Am J Hum Genet ; 97(6): 904-13, 2015 Dec 03.

Artículo en Inglés | MEDLINE | ID: mdl-26637980

19.

Three-dimensional microCT imaging of mouse development from early post-implantation to early postnatal stages.

Hsu, Chih-Wei; Wong, Leeyean; Rasmussen, Tara L; Kalaga, Sowmya; McElwee, Melissa L; Keith, Lance C; Bohat, Ritu; Seavitt, John R; Beaudet, Arthur L; Dickinson, Mary E.

Dev Biol ; 419(2): 229-236, 2016 11 15.

Artículo en Inglés | MEDLINE | ID: mdl-27671873

20.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Xia, Fan; Bainbridge, Matthew N; Tan, Tiong Yang; Wangler, Michael F; Scheuerle, Angela E; Zackai, Elaine H; Harr, Margaret H; Sutton, V Reid; Nalam, Roopa L; Zhu, Wenmiao; Nash, Margot; Ryan, Monique M; Yaplito-Lee, Joy; Hunter, Jill V; Deardorff, Matthew A; Penney, Samantha J; Beaudet, Arthur L; Plon, Sharon E; Boerwinkle, Eric A; Lupski, James R; Eng, Christine M; Muzny, Donna M; Yang, Yaping; Gibbs, Richard A.

Am J Hum Genet ; 94(5): 784-9, 2014 May 01.

Artículo en Inglés | MEDLINE | ID: mdl-24791903

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