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Items: 1 to 20 of 121

1.

Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.

Korf BR, Blitzer MG, Demmer LA, Feldman GL, Watson MS.

Genet Med. 2017 Sep;19(9). doi: 10.1038/gim.2017.38. Epub 2017 Apr 27. No abstract available.

2.

The Foundation of the British Elbow and Shoulder Society (BESS).

Wallace WA, Watson MS.

Shoulder Elbow. 2017 Jan;9(1):4-14. doi: 10.1177/1758573216682431. Epub 2016 Dec 15. No abstract available.

PMID:
28572845
3.

CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG.

Genet Med. 2017 May;19(5):606. doi: 10.1038/gim.2017.18. No abstract available.

PMID:
28492529
4.

Newborn Sequencing in Genomic Medicine and Public Health.

Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL.

Pediatrics. 2017 Feb;139(2). pii: e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.

PMID:
28096516
5.

Somatic cancer variant curation and harmonization through consensus minimum variant level data.

Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S; ClinGen Somatic Cancer Working Group.

Genome Med. 2016 Nov 4;8(1):117.

6.

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

Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS.

Genet Med. 2016 Oct;18(10):1056-65. doi: 10.1038/gim.2016.97. Epub 2016 Jul 28.

PMID:
27467454
7.

ClinGen--the Clinical Genome Resource.

Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen.

N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27.

8.
9.

Genetic testing and FDA regulation: overregulation threatens the emergence of genomic medicine.

Evans JP, Watson MS.

JAMA. 2015 Feb 17;313(7):669-70. doi: 10.1001/jama.2014.18145. No abstract available.

PMID:
25560537
10.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics.

Genet Med. 2014 Nov;16(11):e1.

PMID:
25356975
11.

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR.

JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. Erratum in: JAMA. 2014 Nov 26;312(20):2169. Bonagura, Vincent R [Added].

12.

Quality assurance and quality control in clinical cytogenetics.

Mikhail FM, Watson MS.

Curr Protoc Hum Genet. 2014 Jul 14;82:8.2.1-10. doi: 10.1002/0471142905.hg0802s82.

PMID:
25042720
13.

Parental permission for pilot newborn screening research: guidelines from the NBSTRN.

Botkin JR, Lewis MH, Watson MS, Swoboda KJ, Anderson R, Berry SA, Bonhomme N, Brosco JP, Comeau AM, Goldenberg A, Goldman E, Therrell B, Levy-Fisch J, Tarini B, Wilfond B; Bioethics and Legal Work Group of the Newborn Screening Translational Research Network.

Pediatrics. 2014 Feb;133(2):e410-7. doi: 10.1542/peds.2013-2271. Epub 2014 Jan 6.

14.

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.

Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.

15.

ACMG statement on noninvasive prenatal screening for fetal aneuploidy.

Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, Thompson BH, Watson MS.

Genet Med. 2013 May;15(5):395-8. doi: 10.1038/gim.2013.29. Epub 2013 Apr 4.

PMID:
23558255
16.

ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions.

Monaghan KG, Benkendorf J, Cherry AM, Gross SJ, Richards CS, Sutton VR, Watson MS; Laboratory Quality Assurance Committee of the American College of Medical Genetics and Genomics; Professional Practice and Guidelines Committee of the American College of Medical Genetics and Genomics.

Genet Med. 2013 Apr;15(4):314-5. doi: 10.1038/gim.2012.178. Epub 2013 Jan 24. No abstract available.

PMID:
23348768
17.

New recurrent balanced translocations in acute myeloid leukemia and myelodysplastic syndromes: cancer and leukemia group B 8461.

Walker A, Mrózek K, Kohlschmidt J, Rao KW, Pettenati MJ, Sterling LJ, Marcucci G, Carroll AJ, Bloomfield CD; Alliance for Clinical Trials in Oncology.

Genes Chromosomes Cancer. 2013 Apr;52(4):385-401. doi: 10.1002/gcc.22036. Epub 2012 Dec 10.

18.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
19.

Competencies for the physician medical geneticist in the 21st century.

Korf BR, Irons M, Watson MS.

Genet Med. 2011 Nov;13(11):911-2. doi: 10.1097/GIM.0b013e31823331f9. No abstract available.

PMID:
22075526
20.

Newborn screening for metabolic disorders: how are we doing, and where are we going?

Bennett MJ, Rinaldo P, Wilcken B, Pass KA, Watson MS, Wanders RJ.

Clin Chem. 2012 Feb;58(2):324-31. doi: 10.1373/clinchem.2011.171215. Epub 2011 Aug 24. No abstract available.

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