Etiology
Rose NC,
Barrie ES,
Malinowski J,
Jenkins GP,
McClain MR,
LaGrave D,
Leung ML;
ACMG Professional Practice and Guidelines Committee. Electronic address: [email protected]
Genet Med
2022 Jul;24(7):1379-1391.
Epub 2022 May 24
doi: 10.1016/j.gim.2022.03.019.
PMID: 35608568
van der Meij KRM,
Sistermans EA,
Macville MVE,
Stevens SJC,
Bax CJ,
Bekker MN,
Bilardo CM,
Boon EMJ,
Boter M,
Diderich KEM,
de Die-Smulders CEM,
Duin LK,
Faas BHW,
Feenstra I,
Haak MC,
Hoffer MJV,
den Hollander NS,
Hollink IHIM,
Jehee FS,
Knapen MFCM,
Kooper AJA,
van Langen IM,
Lichtenbelt KD,
Linskens IH,
van Maarle MC,
Oepkes D,
Pieters MJ,
Schuring-Blom GH,
Sikkel E,
Sikkema-Raddatz B,
Smeets DFCM,
Srebniak MI,
Suijkerbuijk RF,
Tan-Sindhunata GM,
van der Ven AJEM,
van Zelderen-Bhola SL,
Henneman L,
Galjaard RH,
Van Opstal D,
Weiss MM;
Dutch NIPT Consortium
Am J Hum Genet
2019 Dec 5;105(6):1091-1101.
Epub 2019 Nov 7
doi: 10.1016/j.ajhg.2019.10.005.
PMID: 31708118Free PMC Article
Satgé D,
Nishi M,
Sirvent N,
Vekemans M,
Chenard MP,
Barnes A
Am J Med Genet A
2017 Aug;173(8):2088-2096.
Epub 2017 May 25
doi: 10.1002/ajmg.a.38294.
PMID: 28544599
Taylor-Phillips S,
Freeman K,
Geppert J,
Agbebiyi A,
Uthman OA,
Madan J,
Clarke A,
Quenby S,
Clarke A
BMJ Open
2016 Jan 18;6(1):e010002.
doi: 10.1136/bmjopen-2015-010002.
PMID: 26781507Free PMC Article
Zhang H,
Gao Y,
Jiang F,
Fu M,
Yuan Y,
Guo Y,
Zhu Z,
Lin M,
Liu Q,
Tian Z,
Zhang H,
Chen F,
Lau TK,
Zhao L,
Yi X,
Yin Y,
Wang W
Ultrasound Obstet Gynecol
2015 May;45(5):530-8.
Epub 2015 Apr 8
doi: 10.1002/uog.14792.
PMID: 25598039
Diagnosis
Pereira EM
Pediatr Rev
2023 Jan 1;44(1):53-54.
doi: 10.1542/pir.2022-005517.
PMID: 36587017
Weaver MS,
Anderson V,
Beck J,
Delaney JW,
Ellis C,
Fletcher S,
Hammel J,
Haney S,
Macfadyen A,
Norton B,
Rickard M,
Robinson JA,
Sewell R,
Starr L,
Birge ND
Am J Med Genet A
2021 Mar;185(3):966-977.
Epub 2020 Dec 31
doi: 10.1002/ajmg.a.62051.
PMID: 33381915
Goel N,
Morris JK,
Tucker D,
de Walle HEK,
Bakker MK,
Kancherla V,
Marengo L,
Canfield MA,
Kallen K,
Lelong N,
Camelo JL,
Stallings EB,
Jones AM,
Nance A,
Huynh MP,
Martínez-Fernández ML,
Sipek A,
Pierini A,
Nembhard WN,
Goetz D,
Rissmann A,
Groisman B,
Luna-Muñoz L,
Szabova E,
Lapchenko S,
Zarante I,
Hurtado-Villa P,
Martinez LE,
Tagliabue G,
Landau D,
Gatt M,
Dastgiri S,
Morgan M
Am J Med Genet A
2019 Dec;179(12):2382-2392.
Epub 2019 Sep 30
doi: 10.1002/ajmg.a.61365.
PMID: 31566869Free PMC Article
Levy PA,
Marion R
Pediatr Rev
2018 Feb;39(2):104-106.
doi: 10.1542/pir.2016-0198.
PMID: 29437136
Harraway J
Aust Fam Physician
2017 Oct;46(10):735-739.
PMID: 29036772
Therapy
Glinianaia SV,
Rankin J,
Tan J,
Loane M,
Garne E,
Cavero-Carbonell C,
de Walle HEK,
Gatt M,
Gissler M,
Klungsøyr K,
Lelong N,
Neville A,
Pierini A,
Tucker DF,
Urhoj SK,
Wellesley DG,
Morris JK
Arch Dis Child
2023 Jun;108(6):461-467.
Epub 2023 Mar 7
doi: 10.1136/archdischild-2022-325068.
PMID: 36882305
Rose NC,
Barrie ES,
Malinowski J,
Jenkins GP,
McClain MR,
LaGrave D,
Leung ML;
ACMG Professional Practice and Guidelines Committee. Electronic address: [email protected]
Genet Med
2022 Jul;24(7):1379-1391.
Epub 2022 May 24
doi: 10.1016/j.gim.2022.03.019.
PMID: 35608568
Kepple JW,
Peeples ES
Am J Med Genet A
2022 Feb;188(2):548-555.
Epub 2021 Nov 1
doi: 10.1002/ajmg.a.62552.
PMID: 34719838
Swanson SK,
Schumacher KR,
Ohye RG,
Zampi JD
J Thorac Cardiovasc Surg
2021 Jul;162(1):241-249.
Epub 2020 Sep 1
doi: 10.1016/j.jtcvs.2020.08.082.
PMID: 32981701
Society for Maternal-Fetal Medicine (SMFM),
Gandhi M,
Rac MWF,
McKinney J
Am J Obstet Gynecol
2019 Dec;221(6):B16-B18.
doi: 10.1016/j.ajog.2019.09.024.
PMID: 31787159
Prognosis
Society for Maternal-Fetal Medicine (SMFM),
Monteagudo A
Am J Obstet Gynecol
2020 Dec;223(6):B13-B16.
Epub 2020 Nov 7
doi: 10.1016/j.ajog.2020.08.178.
PMID: 33168217
Society for Maternal-Fetal Medicine,
Rac MWF,
McKinney J,
Gandhi M
Am J Obstet Gynecol
2019 Dec;221(6):B13-B15.
doi: 10.1016/j.ajog.2019.09.023.
PMID: 31787158
van der Meij KRM,
Sistermans EA,
Macville MVE,
Stevens SJC,
Bax CJ,
Bekker MN,
Bilardo CM,
Boon EMJ,
Boter M,
Diderich KEM,
de Die-Smulders CEM,
Duin LK,
Faas BHW,
Feenstra I,
Haak MC,
Hoffer MJV,
den Hollander NS,
Hollink IHIM,
Jehee FS,
Knapen MFCM,
Kooper AJA,
van Langen IM,
Lichtenbelt KD,
Linskens IH,
van Maarle MC,
Oepkes D,
Pieters MJ,
Schuring-Blom GH,
Sikkel E,
Sikkema-Raddatz B,
Smeets DFCM,
Srebniak MI,
Suijkerbuijk RF,
Tan-Sindhunata GM,
van der Ven AJEM,
van Zelderen-Bhola SL,
Henneman L,
Galjaard RH,
Van Opstal D,
Weiss MM;
Dutch NIPT Consortium
Am J Hum Genet
2019 Dec 5;105(6):1091-1101.
Epub 2019 Nov 7
doi: 10.1016/j.ajhg.2019.10.005.
PMID: 31708118Free PMC Article
Goel N,
Morris JK,
Tucker D,
de Walle HEK,
Bakker MK,
Kancherla V,
Marengo L,
Canfield MA,
Kallen K,
Lelong N,
Camelo JL,
Stallings EB,
Jones AM,
Nance A,
Huynh MP,
Martínez-Fernández ML,
Sipek A,
Pierini A,
Nembhard WN,
Goetz D,
Rissmann A,
Groisman B,
Luna-Muñoz L,
Szabova E,
Lapchenko S,
Zarante I,
Hurtado-Villa P,
Martinez LE,
Tagliabue G,
Landau D,
Gatt M,
Dastgiri S,
Morgan M
Am J Med Genet A
2019 Dec;179(12):2382-2392.
Epub 2019 Sep 30
doi: 10.1002/ajmg.a.61365.
PMID: 31566869Free PMC Article
Zhang H,
Gao Y,
Jiang F,
Fu M,
Yuan Y,
Guo Y,
Zhu Z,
Lin M,
Liu Q,
Tian Z,
Zhang H,
Chen F,
Lau TK,
Zhao L,
Yi X,
Yin Y,
Wang W
Ultrasound Obstet Gynecol
2015 May;45(5):530-8.
Epub 2015 Apr 8
doi: 10.1002/uog.14792.
PMID: 25598039
Clinical prediction guides
Boddupally K,
Rani Thuraka E
Clin Chim Acta
2024 Jan 1;552:117669.
Epub 2023 Nov 23
doi: 10.1016/j.cca.2023.117669.
PMID: 38007058
Hafezi N,
Jensen AR,
Saenz ZM,
Collings AT,
Colgate CL,
Inanc Salih ZN,
Geddes GC,
Gray BW
J Pediatr Surg
2023 Aug;58(8):1512-1519.
Epub 2022 Oct 22
doi: 10.1016/j.jpedsurg.2022.10.010.
PMID: 36402594
Carvajal HG,
Callahan CP,
Miller JR,
Rensink BL,
Eghtesady P
Pediatr Cardiol
2020 Oct;41(7):1319-1333.
Epub 2020 Sep 14
doi: 10.1007/s00246-020-02444-6.
PMID: 32924070
van der Meij KRM,
Sistermans EA,
Macville MVE,
Stevens SJC,
Bax CJ,
Bekker MN,
Bilardo CM,
Boon EMJ,
Boter M,
Diderich KEM,
de Die-Smulders CEM,
Duin LK,
Faas BHW,
Feenstra I,
Haak MC,
Hoffer MJV,
den Hollander NS,
Hollink IHIM,
Jehee FS,
Knapen MFCM,
Kooper AJA,
van Langen IM,
Lichtenbelt KD,
Linskens IH,
van Maarle MC,
Oepkes D,
Pieters MJ,
Schuring-Blom GH,
Sikkel E,
Sikkema-Raddatz B,
Smeets DFCM,
Srebniak MI,
Suijkerbuijk RF,
Tan-Sindhunata GM,
van der Ven AJEM,
van Zelderen-Bhola SL,
Henneman L,
Galjaard RH,
Van Opstal D,
Weiss MM;
Dutch NIPT Consortium
Am J Hum Genet
2019 Dec 5;105(6):1091-1101.
Epub 2019 Nov 7
doi: 10.1016/j.ajhg.2019.10.005.
PMID: 31708118Free PMC Article
Satgé D,
Nishi M,
Sirvent N,
Vekemans M,
Chenard MP,
Barnes A
Am J Med Genet A
2017 Aug;173(8):2088-2096.
Epub 2017 May 25
doi: 10.1002/ajmg.a.38294.
PMID: 28544599