Etiology
Bartik LE,
Hughes SS,
Tracy M,
Feldt MM,
Zhang L,
Arganbright J,
Kaye A
Am J Med Genet A
2022 Mar;188(3):779-787.
Epub 2021 Nov 29
doi: 10.1002/ajmg.a.62577.
PMID: 34845825
Adam MP,
Banka S,
Bjornsson HT,
Bodamer O,
Chudley AE,
Harris J,
Kawame H,
Lanpher BC,
Lindsley AW,
Merla G,
Miyake N,
Okamoto N,
Stumpel CT,
Niikawa N;
Kabuki Syndrome Medical Advisory Board
J Med Genet
2019 Feb;56(2):89-95.
Epub 2018 Dec 4
doi: 10.1136/jmedgenet-2018-105625.
PMID: 30514738
Al Shehhi M,
Forman EB,
Fitzgerald JE,
McInerney V,
Krawczyk J,
Shen S,
Betts DR,
Ardle LM,
Gorman KM,
King MD,
Green A,
Gallagher L,
Lynch SA
Eur J Med Genet
2019 Mar;62(3):204-209.
Epub 2018 Jul 18
doi: 10.1016/j.ejmg.2018.07.015.
PMID: 30031152
Priolo M,
Schanze D,
Tatton-Brown K,
Mulder PA,
Tenorio J,
Kooblall K,
Acero IH,
Alkuraya FS,
Arias P,
Bernardini L,
Bijlsma EK,
Cole T,
Coubes C,
Dapia I,
Davies S,
Di Donato N,
Elcioglu NH,
Fahrner JA,
Foster A,
González NG,
Huber I,
Iascone M,
Kaiser AS,
Kamath A,
Liebelt J,
Lynch SA,
Maas SM,
Mammì C,
Mathijssen IB,
McKee S,
Menke LA,
Mirzaa GM,
Montgomery T,
Neubauer D,
Neumann TE,
Pintomalli L,
Pisanti MA,
Plomp AS,
Price S,
Salter C,
Santos-Simarro F,
Sarda P,
Segovia M,
Shaw-Smith C,
Smithson S,
Suri M,
Valdez RM,
Van Haeringen A,
Van Hagen JM,
Zollino M,
Lapunzina P,
Thakker RV,
Zenker M,
Hennekam RC
Hum Mutat
2018 Sep;39(9):1226-1237.
Epub 2018 Jun 25
doi: 10.1002/humu.23563.
PMID: 29897170Free PMC Article
Cassidy SB,
Schwartz S,
Miller JL,
Driscoll DJ
Genet Med
2012 Jan;14(1):10-26.
Epub 2011 Sep 26
doi: 10.1038/gim.0b013e31822bead0.
PMID: 22237428
Diagnosis
Spahiu L,
Behluli E,
Grajçevci-Uka V,
Liehr T,
Temaj G
J Mother Child
2022 Mar 1;26(1):118-123.
Epub 2023 Feb 22
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
PMID: 36803942Free PMC Article
Nakousi Capurro N,
Cares Basualto C,
Alegría Olivos A,
Gaínza Lein M,
López Aristizabal L,
Gayan Torrente A,
Ojeda Contreras V,
Irarrázaval Montero MJ
Rev Chil Pediatr
2020 Oct;91(5):732-742.
doi: 10.32641/rchped.vi91i5.1518.
PMID: 33399638
Kraoua L,
Capri Y,
Perrin L,
Benmansour A,
Verloes A
Am J Med Genet A
2012 Sep;158A(9):2233-8.
Epub 2012 Jul 18
doi: 10.1002/ajmg.a.35212.
PMID: 22811276
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Mowat DR,
Wilson MJ,
Goossens M
J Med Genet
2003 May;40(5):305-10.
doi: 10.1136/jmg.40.5.305.
PMID: 12746390Free PMC Article
Therapy
Santoro JD,
Filipink RA,
Baumer NT,
Bulova PD,
Handen BL
Curr Opin Psychiatry
2023 Mar 1;36(2):96-103.
Epub 2022 Dec 29
doi: 10.1097/YCO.0000000000000845.
PMID: 36705008
Rodríguez-Grande EI,
Vargas-Pinilla OC,
Torres-Narvaez MR,
Rodríguez-Malagón N
Sci Rep
2022 Sep 2;12(1):14988.
doi: 10.1038/s41598-022-19086-8.
PMID: 36056081Free PMC Article
Rodríguez-Grande EI,
Buitrago-López A,
Torres-Narváez MR,
Serrano-Villar Y,
Verdugo-Paiva F,
Ávila C
Sci Rep
2022 Jul 29;12(1):13051.
doi: 10.1038/s41598-022-16332-x.
PMID: 35906275Free PMC Article
Rose NC,
Barrie ES,
Malinowski J,
Jenkins GP,
McClain MR,
LaGrave D,
Leung ML;
ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med
2022 Jul;24(7):1379-1391.
Epub 2022 May 24
doi: 10.1016/j.gim.2022.03.019.
PMID: 35608568
Martínez-Espinosa RM,
Molina Vila MD,
Reig García-Galbis M
Int J Environ Res Public Health
2020 Jun 16;17(12)
doi: 10.3390/ijerph17124294.
PMID: 32560141Free PMC Article
Prognosis
Cordelli DM,
Di Pisa V,
Fetta A,
Garavelli L,
Maltoni L,
Soliani L,
Ricci E
Genes (Basel)
2021 Jun 27;12(7)
doi: 10.3390/genes12070982.
PMID: 34199024Free PMC Article
Nakousi Capurro N,
Cares Basualto C,
Alegría Olivos A,
Gaínza Lein M,
López Aristizabal L,
Gayan Torrente A,
Ojeda Contreras V,
Irarrázaval Montero MJ
Rev Chil Pediatr
2020 Oct;91(5):732-742.
doi: 10.32641/rchped.vi91i5.1518.
PMID: 33399638
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Turleau C
Orphanet J Rare Dis
2008 Feb 19;3:4.
doi: 10.1186/1750-1172-3-4.
PMID: 18284672Free PMC Article
Garavelli L,
Mainardi PC
Orphanet J Rare Dis
2007 Oct 24;2:42.
doi: 10.1186/1750-1172-2-42.
PMID: 17958891Free PMC Article
Clinical prediction guides
Stoll C,
Alembik Y,
Dott B,
Roth MP
Eur J Med Genet
2022 Nov;65(11):104612.
Epub 2022 Sep 20
doi: 10.1016/j.ejmg.2022.104612.
PMID: 36150686
Di Candia F,
Fontana P,
Paglia P,
Falco M,
Rosano C,
Piscopo C,
Cappuccio G,
Siano MA,
De Brasi D,
Mandato C,
De Maggio I,
Squeo GM,
Monica MD,
Scarano G,
Lonardo F,
Strisciuglio P,
Merla G,
Melis D
Eur J Pediatr
2022 Jan;181(1):171-187.
Epub 2021 Jul 7
doi: 10.1007/s00431-021-04108-w.
PMID: 34232366Free PMC Article
Weiss K,
Lazar HP,
Kurolap A,
Martinez AF,
Paperna T,
Cohen L,
Smeland MF,
Whalen S,
Heide S,
Keren B,
Terhal P,
Irving M,
Takaku M,
Roberts JD,
Petrovich RM,
Schrier Vergano SA,
Kenney A,
Hove H,
DeChene E,
Quinonez SC,
Colin E,
Ziegler A,
Rumple M,
Jain M,
Monteil D,
Roeder ER,
Nugent K,
van Haeringen A,
Gambello M,
Santani A,
Medne L,
Krock B,
Skraban CM,
Zackai EH,
Dubbs HA,
Smol T,
Ghoumid J,
Parker MJ,
Wright M,
Turnpenny P,
Clayton-Smith J,
Metcalfe K,
Kurumizaka H,
Gelb BD,
Baris Feldman H,
Campeau PM,
Muenke M,
Wade PA,
Lachlan K
Genet Med
2020 Feb;22(2):389-397.
Epub 2019 Aug 7
doi: 10.1038/s41436-019-0612-0.
PMID: 31388190Free PMC Article
Mastrangelo M,
Scheffer IE,
Bramswig NC,
Nair LD,
Myers CT,
Dentici ML,
Korenke GC,
Schoch K,
Campeau PM,
White SM,
Shashi V,
Kansagra S,
Van Essen AJ,
Leuzzi V
Epileptic Disord
2016 Jun 1;18(2):123-36.
doi: 10.1684/epd.2016.0830.
PMID: 27267311
Garavelli L,
Mainardi PC
Orphanet J Rare Dis
2007 Oct 24;2:42.
doi: 10.1186/1750-1172-2-42.
PMID: 17958891Free PMC Article