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Items: 1 to 50 of 411

1.

Reanalysis of Clinical Exome Sequencing Data.

Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y.

N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. No abstract available.

PMID:
31216405
2.

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.

Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W.

Genome Med. 2019 May 17;11(1):30. doi: 10.1186/s13073-019-0639-5.

3.

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

Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B.

Am J Hum Genet. 2019 Apr 4;104(4):685-700. doi: 10.1016/j.ajhg.2019.03.008. Epub 2019 Mar 28.

PMID:
30929737
4.

Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Moore BA, Leonard BC, Sebbag L, Edwards SG, Cooper A, Imai DM, Straiton E, Santos L, Reilly C, Griffey SM, Bower L, Clary D, Mason J, Roux MJ, Meziane H, Herault Y; International Mouse Phenotyping Consortium, McKerlie C, Flenniken AM, Nutter LMJ, Berberovic Z, Owen C, Newbigging S, Adissu H, Eskandarian M, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gallegos JJ, Seavitt JR, Heaney JD, Beaudet AL, Dickinson ME, Justice MJ, Philip V, Kumar V, Svenson KL, Braun RE, Wells S, Cater H, Stewart M, Clementson-Mobbs S, Joynson R, Gao X, Suzuki T, Wakana S, Smedley D, Seong JK, Tocchini-Valentini G, Moore M, Fletcher C, Karp N, Ramirez-Solis R, White JK, de Angelis MH, Wurst W, Thomasy SM, Flicek P, Parkinson H, Brown SDM, Meehan TF, Nishina PM, Murray SA, Krebs MP, Mallon AM, Kent Lloyd KC, Murphy CJ, Moshiri A.

Commun Biol. 2019 Mar 7;2:97. doi: 10.1038/s42003-019-0349-y. eCollection 2019.

5.

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.

Goin-Kochel RP, Scaglia F, Schaaf CP, Berry LN, Dang D, Nowel KP, Laakman AL, Dowell LR, Minard CG, Loh A, Beaudet AL.

Glob Pediatr Health. 2019 Feb 19;6:2333794X19830696. doi: 10.1177/2333794X19830696. eCollection 2019. No abstract available.

6.

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

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

7.

Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Moore BA, Leonard BC, Sebbag L, Edwards SG, Cooper A, Imai DM, Straiton E, Santos L, Reilly C, Griffey SM, Bower L, Clary D, Mason J, Roux MJ, Meziane H, Herault Y; International Mouse Phenotyping Consortium, McKerlie C, Flenniken AM, Nutter LMJ, Berberovic Z, Owen C, Newbigging S, Adissu H, Eskandarian M, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gallegos JJ, Seavitt JR, Heaney JD, Beaudet AL, Dickinson ME, Justice MJ, Philip V, Kumar V, Svenson KL, Braun RE, Wells S, Cater H, Stewart M, Clementson-Mobbs S, Joynson R, Gao X, Suzuki T, Wakana S, Smedley D, Seong JK, Tocchini-Valentini G, Moore M, Fletcher C, Karp N, Ramirez-Solis R, White JK, de Angelis MH, Wurst W, Thomasy SM, Flicek P, Parkinson H, Brown SDM, Meehan TF, Nishina PM, Murray SA, Krebs MP, Mallon AM, Lloyd KCK, Murphy CJ, Moshiri A.

Commun Biol. 2018 Dec 21;1:236. doi: 10.1038/s42003-018-0226-0. eCollection 2018. Erratum in: Commun Biol. 2019 Mar 7;2:97.

8.

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 KN, Cao Y, Pham J, Cheung SW, Hoffner L, Ou ZZ, Surti U, Cook EH, Beaudet AL.

J Hum Genet. 2019 Mar;64(3):253-255. doi: 10.1038/s10038-018-0543-7. Epub 2018 Dec 12.

PMID:
30542208
9.

Rapid and Integrative Discovery of Retina Regulatory Molecules.

Albrecht NE, Alevy J, Jiang D, Burger CA, Liu BI, Li F, Wang J, Kim SY, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gaspero A, Justice MJ, Westenskow PD, Yamamoto S, Seavitt JR, Beaudet AL, Dickinson ME, Samuel MA.

Cell Rep. 2018 Aug 28;24(9):2506-2519. doi: 10.1016/j.celrep.2018.07.090.

10.

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

Lanza DG, Gaspero A, Lorenzo I, Liao L, Zheng P, Wang Y, Deng Y, Cheng C, Zhang C, Seavitt JR, DeMayo FJ, Xu J, Dickinson ME, Beaudet AL, Heaney JD.

BMC Biol. 2018 Jun 21;16(1):69. doi: 10.1186/s12915-018-0529-0.

11.

2017 Victor A. McKusick Leadership Award.

Beaudet AL.

Am J Hum Genet. 2018 Mar 1;102(3):361-363. doi: 10.1016/j.ajhg.2018.01.011. No abstract available.

12.

Identification of genetic elements in metabolism by high-throughput mouse phenotyping.

Rozman J, Rathkolb B, Oestereicher MA, Schütt C, Ravindranath AC, Leuchtenberger S, Sharma S, Kistler M, Willershäuser M, Brommage R, Meehan TF, Mason J, Haselimashhadi H; IMPC Consortium, Hough T, Mallon AM, Wells S, Santos L, Lelliott CJ, White JK, Sorg T, Champy MF, Bower LR, Reynolds CL, Flenniken AM, Murray SA, Nutter LMJ, Svenson KL, West D, Tocchini-Valentini GP, Beaudet AL, Bosch F, Braun RB, Dobbie MS, Gao X, Herault Y, Moshiri A, Moore BA, Kent Lloyd KC, McKerlie C, Masuya H, Tanaka N, Flicek P, Parkinson HE, Sedlacek R, Seong JK, Wang CL, Moore M, Brown SD, Tschöp MH, Wurst W, Klingenspor M, Wolf E, Beckers J, Machicao F, Peter A, Staiger H, Häring HU, Grallert H, Campillos M, Maier H, Fuchs H, Gailus-Durner V, Werner T, Hrabe de Angelis M.

Nat Commun. 2018 Jan 18;9(1):288. doi: 10.1038/s41467-017-01995-2.

13.

Corrigendum: High-throughput discovery of novel developmental phenotypes.

Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie Helmut Fuchs SM, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Nutter SNLMJ, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium, Wurst W, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SDM, Adams DJ, Lloyd KCK, McKerlie C, Beaudet AL, Murray MBSA.

Nature. 2017 Nov 16;551(7680):398. doi: 10.1038/nature24643. Epub 2017 Nov 8.

14.

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.

Bowl MR, Simon MM, Ingham NJ, Greenaway S, Santos L, Cater H, Taylor S, Mason J, Kurbatova N, Pearson S, Bower LR, Clary DA, Meziane H, Reilly P, Minowa O, Kelsey L; International Mouse Phenotyping Consortium, Tocchini-Valentini GP, Gao X, Bradley A, Skarnes WC, Moore M, Beaudet AL, Justice MJ, Seavitt J, Dickinson ME, Wurst W, de Angelis MH, Herault Y, Wakana S, Nutter LMJ, Flenniken AM, McKerlie C, Murray SA, Svenson KL, Braun RE, West DB, Lloyd KCK, Adams DJ, White J, Karp N, Flicek P, Smedley D, Meehan TF, Parkinson HE, Teboul LM, Wells S, Steel KP, Mallon AM, Brown SDM.

Nat Commun. 2017 Oct 12;8(1):886. doi: 10.1038/s41467-017-00595-4.

15.

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR.

JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4.

16.

Identification of novel candidate disease genes from de novo exonic copy number variants.

Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P.

Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7.

17.

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

Beaudet AL.

Bioessays. 2017 Aug;39(8). doi: 10.1002/bies.201700012. Epub 2017 Jul 13. Review.

18.

Prevalence of sexual dimorphism in mammalian phenotypic traits.

Karp NA, Mason J, Beaudet AL, Benjamini Y, Bower L, Braun RE, Brown SDM, Chesler EJ, Dickinson ME, Flenniken AM, Fuchs H, Angelis MH, Gao X, Guo S, Greenaway S, Heller R, Herault Y, Justice MJ, Kurbatova N, Lelliott CJ, Lloyd KCK, Mallon AM, Mank JE, Masuya H, McKerlie C, Meehan TF, Mott RF, Murray SA, Parkinson H, Ramirez-Solis R, Santos L, Seavitt JR, Smedley D, Sorg T, Speak AO, Steel KP, Svenson KL; International Mouse Phenotyping Consortium, Wakana S, West D, Wells S, Westerberg H, Yaacoby S, White JK.

Nat Commun. 2017 Jun 26;8:15475. doi: 10.1038/ncomms15475.

19.

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.

Meehan TF, Conte N, West DB, Jacobsen JO, Mason J, Warren J, Chen CK, Tudose I, Relac M, Matthews P, Karp N, Santos L, Fiegel T, Ring N, Westerberg H, Greenaway S, Sneddon D, Morgan H, Codner GF, Stewart ME, Brown J, Horner N; International Mouse Phenotyping Consortium, Haendel M, Washington N, Mungall CJ, Reynolds CL, Gallegos J, Gailus-Durner V, Sorg T, Pavlovic G, Bower LR, Moore M, Morse I, Gao X, Tocchini-Valentini GP, Obata Y, Cho SY, Seong JK, Seavitt J, Beaudet AL, Dickinson ME, Herault Y, Wurst W, de Angelis MH, Lloyd KCK, Flenniken AM, Nutter LMJ, Newbigging S, McKerlie C, Justice MJ, Murray SA, Svenson KL, Braun RE, White JK, Bradley A, Flicek P, Wells S, Skarnes WC, Adams DJ, Parkinson H, Mallon AM, Brown SDM, Smedley D.

Nat Genet. 2017 Aug;49(8):1231-1238. doi: 10.1038/ng.3901. Epub 2017 Jun 26.

20.

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

Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM.

Am J Hum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8.

21.

Lessons learned from additional research analyses of unsolved clinical exome cases.

Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR.

Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6.

22.

2016 Curt Stern Award Introduction: Brendan Lee.

Beaudet AL.

Am J Hum Genet. 2017 Mar 2;100(3):395-396. doi: 10.1016/j.ajhg.2017.01.007. No abstract available.

23.

Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP.

J Autism Dev Disord. 2017 Mar;47(3):563. doi: 10.1007/s10803-017-3047-y. No abstract available.

PMID:
28168676
24.

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Rivière JB, Thauvin-Robinet C, Beaudet AL, Faivre L.

Clin Genet. 2017 Aug;92(2):188-198. doi: 10.1111/cge.12985. Epub 2017 Mar 1.

PMID:
28155230
25.

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J.

Genet Med. 2017 Aug;19(8):936-944. doi: 10.1038/gim.2016.215. Epub 2017 Jan 26.

PMID:
28125085
26.

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

Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR.

Nucleic Acids Res. 2017 Feb 28;45(4):1633-1648. doi: 10.1093/nar/gkw1237.

27.

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR.

N Engl J Med. 2017 Jan 5;376(1):21-31. doi: 10.1056/NEJMoa1516767. Epub 2016 Dec 7.

28.

Darwin Comes to Clinic.

Beaudet AL.

Trends Genet. 2017 Jan;33(1):1-2. doi: 10.1016/j.tig.2016.11.005. Epub 2016 Nov 28.

PMID:
27908673
29.

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, Chen M, Grebe T, Minard CG, Stankiewicz P, Beaudet AL, Schaaf CP.

J Autism Dev Disord. 2017 Mar;47(3):549-562. doi: 10.1007/s10803-016-2961-8. Erratum in: J Autism Dev Disord. 2017 Mar;47(3):563.

30.

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

Hsu CW, Wong L, Rasmussen TL, Kalaga S, McElwee ML, Keith LC, Bohat R, Seavitt JR, Beaudet AL, Dickinson ME.

Dev Biol. 2016 Nov 15;419(2):229-236. doi: 10.1016/j.ydbio.2016.09.011. Epub 2016 Sep 23.

31.

Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.

Kølvraa S, Singh R, Normand EA, Qdaisat S, van den Veyver IB, Jackson L, Hatt L, Schelde P, Uldbjerg N, Vestergaard EM, Zhao L, Chen R, Shaw CA, Breman AM, Beaudet AL.

Prenat Diagn. 2016 Dec;36(12):1127-1134. doi: 10.1002/pd.4948. Epub 2016 Nov 18.

PMID:
27761919
32.

High-throughput discovery of novel developmental phenotypes.

Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A; International Mouse Phenotyping Consortium; Jackson Laboratory; Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource Center, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bućan M, Murray SA.

Nature. 2016 Sep 22;537(7621):508-514. doi: 10.1038/nature19356. Epub 2016 Sep 14. Erratum in: Nature. 2017 Nov 16;551(7680):398.

33.

Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.

Breman AM, Chow JC, U'Ren L, Normand EA, Qdaisat S, Zhao L, Henke DM, Chen R, Shaw CA, Jackson L, Yang Y, Vossaert L, Needham RH, Chang EJ, Campton D, Werbin JL, Seubert RC, Van den Veyver IB, Stilwell JL, Kaldjian EP, Beaudet AL.

Prenat Diagn. 2016 Nov;36(11):1009-1019. doi: 10.1002/pd.4924. Epub 2016 Oct 2.

34.

Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.

Bornstein E, Berger S, Cheung SW, Maliszewski KT, Patel A, Pursley AN, Lenchner E, Bacino C, Beaudet AL, Divon MY.

Am J Perinatol. 2017 Mar;34(4):340-348. doi: 10.1055/s-0036-1586501. Epub 2016 Aug 17.

PMID:
27533100
35.

Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LAD, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH.

J Inherit Metab Dis. 2016 Sep;39(5):757. doi: 10.1007/s10545-016-9944-y. No abstract available.

PMID:
27225280
36.

Using fetal cells for prenatal diagnosis: History and recent progress.

Beaudet AL.

Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):123-7. doi: 10.1002/ajmg.c.31487. Epub 2016 May 2. Review.

PMID:
27133782
37.

Chromosomal microarray analysis, or comparative genomic hybridization: A high throughput approach.

Haeri M, Gelowani V, Beaudet AL.

MethodsX. 2015 Dec 2;3:8-18. doi: 10.1016/j.mex.2015.11.005. eCollection 2016.

38.

Epigenetics and Human Disease.

Zoghbi HY, Beaudet AL.

Cold Spring Harb Perspect Biol. 2016 Feb 1;8(2):a019497. doi: 10.1101/cshperspect.a019497. Review.

39.

POGZ truncating alleles cause syndromic intellectual disability.

White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR.

Genome Med. 2016 Jan 6;8(1):3. doi: 10.1186/s13073-015-0253-0.

40.

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

Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y.

Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006.

41.

Molecular diagnostic experience of whole-exome sequencing in adult patients.

Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE.

Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3.

42.

Gene-targeting pharmaceuticals for single-gene disorders.

Beaudet AL, Meng L.

Hum Mol Genet. 2016 Apr 15;25(R1):R18-26. doi: 10.1093/hmg/ddv476. Epub 2015 Nov 30. Review.

43.

Preimplantation genetic screens.

Beaudet AL.

Science. 2015 Sep 25;349(6255):1423. doi: 10.1126/science.aad4803. No abstract available.

PMID:
26404799
44.

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW; Autism Sequencing Consortium, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW.

Neuron. 2015 Sep 23;87(6):1215-1233. doi: 10.1016/j.neuron.2015.09.016.

45.

Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation".

Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP.

Am J Med Genet A. 2015 Oct;167A(10):2496. doi: 10.1002/ajmg.a.37192. Epub 2015 Jun 10. No abstract available.

PMID:
26355286
46.

Global genetic carrier testing: a vision for the future.

Beaudet AL.

Genome Med. 2015 Jul 29;7(1):79. doi: 10.1186/s13073-015-0204-9. eCollection 2015.

47.

ACTG2-Related Disorders.

Wangler MF, Beaudet AL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Jun 11.

48.

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP.

Am J Med Genet A. 2015 Sep;167A(9):2162-7. doi: 10.1002/ajmg.a.37144. Epub 2015 May 5. Erratum in: Am J Med Genet A. 2015 Oct;167A(10):2496.

PMID:
25943046
49.

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.

Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH.

J Inherit Metab Dis. 2015 Nov;38(6):1029-39. doi: 10.1007/s10545-015-9843-7. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2016 Sep;39(5):757.

50.

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH Jr, Devlin B.

Biol Psychiatry. 2015 May 1;77(9):775-84. doi: 10.1016/j.biopsych.2014.09.017. Epub 2014 Sep 30.

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