Etiology
Schwartz DD,
Fein RH,
Carvalho CMB,
Sutton VR,
Mazzeu JF,
Axelrad ME
Am J Med Genet A
2021 Dec;185(12):3576-3583.
Epub 2020 Sep 21
doi: 10.1002/ajmg.a.61854.
PMID: 32954672
Kaissi AA,
Kenis V,
Shboul M,
Grill F,
Ganger R,
Kircher SG
J Investig Med High Impact Case Rep
2020 Jan-Dec;8:2324709620911771.
doi: 10.1177/2324709620911771.
PMID: 32172608Free PMC Article
Gulcan H,
Akinci A,
Aktar A
Genet Couns
2005;16(3):297-300.
PMID: 16259327
Diagnosis
Lima AR,
Ferreira BM,
Zhang C,
Jolly A,
Du H,
White JJ,
Dawood M,
Lins TC,
Chiabai MA,
van Beusekom E,
Cordoba MS,
Caldas Rosa ECC,
Kayserili H,
Kimonis V,
Wu E,
Mellado C,
Aggarwal V,
Richieri-Costa A,
Brunoni D,
Canó TM,
Jorge AAL,
Kim CA,
Honjo R,
Bertola DR,
Dandalo-Girardi RM,
Bayram Y,
Gezdirici A,
Yilmaz-Gulec E,
Gumus E,
Yilmaz GC,
Okamoto N,
Ohashi H,
Coban-Akdemir Z,
Mitani T,
Jhangiani SN,
Muzny DM,
Regattieri NAP,
Pogue R,
Pereira RW,
Otto PA,
Gibbs RA,
Ali BR,
van Bokhoven H,
Brunner HG,
Sutton VR,
Lupski JR,
Vianna-Morgante AM,
Carvalho CMB,
Mazzeu JF
Hum Mutat
2022 Jul;43(7):900-918.
Epub 2022 May 10
doi: 10.1002/humu.24375.
PMID: 35344616Free PMC Article
Rai A,
Patil SJ,
Srivastava P,
Gaurishankar K,
Phadke SR
Am J Med Genet A
2021 Apr;185(4):1105-1112.
Epub 2021 Jan 26
doi: 10.1002/ajmg.a.62082.
PMID: 33496066
Zhang C,
Mazzeu JF,
Eisfeldt J,
Grochowski CM,
White J,
Akdemir ZC,
Jhangiani SN,
Muzny DM,
Gibbs RA,
Lindstrand A,
Lupski JR,
Sutton VR,
Carvalho CMB
Am J Med Genet A
2021 Dec;185(12):3593-3600.
Epub 2020 Oct 13
doi: 10.1002/ajmg.a.61908.
PMID: 33048444Free PMC Article
Abu-Ghname A,
Trost J,
Davis MJ,
Sutton VR,
Zhang C,
Guillen DE,
Carvalho CMB,
Maricevich RS
Am J Med Genet A
2021 Dec;185(12):3584-3592.
Epub 2020 Sep 25
doi: 10.1002/ajmg.a.61884.
PMID: 32974972
Patton MA,
Afzal AR
J Med Genet
2002 May;39(5):305-10.
doi: 10.1136/jmg.39.5.305.
PMID: 12011143Free PMC Article
Prognosis
Yang L,
Shannon P,
Silver R,
Roifman M,
Yates C,
Chitayat D
Prenat Diagn
2024 May;44(5):653-656.
Epub 2024 Mar 19
doi: 10.1002/pd.6543.
PMID: 38504427
McDermott H,
Robinson HK,
Caswell R,
Gowda H,
Offiah A,
Naik S
Am J Med Genet A
2022 Jan;188(1):298-303.
Epub 2021 Sep 24
doi: 10.1002/ajmg.a.62499.
PMID: 34558814
Yang K,
Zhu J,
Tan Y,
Sun X,
Zhao H,
Tang G,
Zhang D,
Qi H
J Clin Lab Anal
2020 Feb;34(2):e23074.
Epub 2019 Oct 16
doi: 10.1002/jcla.23074.
PMID: 31617258Free PMC Article
Aglan M,
Amr K,
Ismail S,
Ashour A,
Otaify GA,
Mehrez MA,
Aboul-Ezz EH,
El-Ruby M,
Mazen I,
Abdel-Hamid MS,
Temtamy SA
Am J Med Genet A
2015 Dec;167A(12):3054-61.
Epub 2015 Aug 18
doi: 10.1002/ajmg.a.37287.
PMID: 26284319
White J,
Mazzeu JF,
Hoischen A,
Jhangiani SN,
Gambin T,
Alcino MC,
Penney S,
Saraiva JM,
Hove H,
Skovby F,
Kayserili H,
Estrella E,
Vulto-van Silfhout AT,
Steehouwer M,
Muzny DM,
Sutton VR,
Gibbs RA;
Baylor-Hopkins Center for Mendelian Genomics,
Lupski JR,
Brunner HG,
van Bon BW,
Carvalho CM
Am J Hum Genet
2015 Apr 2;96(4):612-22.
Epub 2015 Mar 26
doi: 10.1016/j.ajhg.2015.02.015.
PMID: 25817016Free PMC Article
Clinical prediction guides
McDermott H,
Robinson HK,
Caswell R,
Gowda H,
Offiah A,
Naik S
Am J Med Genet A
2022 Jan;188(1):298-303.
Epub 2021 Sep 24
doi: 10.1002/ajmg.a.62499.
PMID: 34558814
Rai A,
Patil SJ,
Srivastava P,
Gaurishankar K,
Phadke SR
Am J Med Genet A
2021 Apr;185(4):1105-1112.
Epub 2021 Jan 26
doi: 10.1002/ajmg.a.62082.
PMID: 33496066
Birgmeier J,
Esplin ED,
Jagadeesh KA,
Guturu H,
Wenger AM,
Chaib H,
Buckingham JA,
Bejerano G,
Bernstein JA
Am J Med Genet A
2018 Apr;176(4):1030-1036.
doi: 10.1002/ajmg.a.38636.
PMID: 29575631
White J,
Mazzeu JF,
Hoischen A,
Jhangiani SN,
Gambin T,
Alcino MC,
Penney S,
Saraiva JM,
Hove H,
Skovby F,
Kayserili H,
Estrella E,
Vulto-van Silfhout AT,
Steehouwer M,
Muzny DM,
Sutton VR,
Gibbs RA;
Baylor-Hopkins Center for Mendelian Genomics,
Lupski JR,
Brunner HG,
van Bon BW,
Carvalho CM
Am J Hum Genet
2015 Apr 2;96(4):612-22.
Epub 2015 Mar 26
doi: 10.1016/j.ajhg.2015.02.015.
PMID: 25817016Free PMC Article
Afzal AR,
Rajab A,
Fenske C,
Crosby A,
Lahiri N,
Ternes-Pereira E,
Murday VA,
Houlston R,
Patton MA,
Jeffery S
Hum Genet
2000 Mar;106(3):351-4.
doi: 10.1007/s004390051049.
PMID: 10798366