Etiology
Niggl E,
Bouman A,
Briere LC,
Hoogenboezem RM,
Wallaard I,
Park J,
Admard J,
Wilke M,
Harris-Mostert EDRO,
Elgersma M,
Bain J,
Balasubramanian M,
Banka S,
Benke PJ,
Bertrand M,
Blesson AE,
Clayton-Smith J,
Ellingford JM,
Gillentine MA,
Goodloe DH,
Haack TB,
Jain M,
Krantz I,
Luu SM,
McPheron M,
Muss CL,
Raible SE,
Robin NH,
Spiller M,
Starling S,
Sweetser DA,
Thiffault I,
Vetrini F,
Witt D,
Woods E,
Zhou D;
Genomics England Research Consortium;
Undiagnosed Diseases Network,
Elgersma Y,
van Esbroeck ACM
Am J Hum Genet
2023 Aug 3;110(8):1414-1435.
doi: 10.1016/j.ajhg.2023.07.005.
PMID: 37541189Free PMC Article
Sheppard SE,
Campbell IM,
Harr MH,
Gold N,
Li D,
Bjornsson HT,
Cohen JS,
Fahrner JA,
Fatemi A,
Harris JR,
Nowak C,
Stevens CA,
Grand K,
Au M,
Graham JM Jr,
Sanchez-Lara PA,
Campo MD,
Jones MC,
Abdul-Rahman O,
Alkuraya FS,
Bassetti JA,
Bergstrom K,
Bhoj E,
Dugan S,
Kaplan JD,
Derar N,
Gripp KW,
Hauser N,
Innes AM,
Keena B,
Kodra N,
Miller R,
Nelson B,
Nowaczyk MJ,
Rahbeeni Z,
Ben-Shachar S,
Shieh JT,
Slavotinek A,
Sobering AK,
Abbott MA,
Allain DC,
Amlie-Wolf L,
Au PYB,
Bedoukian E,
Beek G,
Barry J,
Berg J,
Bernstein JA,
Cytrynbaum C,
Chung BH,
Donoghue S,
Dorrani N,
Eaton A,
Flores-Daboub JA,
Dubbs H,
Felix CA,
Fong CT,
Fung JLF,
Gangaram B,
Goldstein A,
Greenberg R,
Ha TK,
Hersh J,
Izumi K,
Kallish S,
Kravets E,
Kwok PY,
Jobling RK,
Knight Johnson AE,
Kushner J,
Lee BH,
Levin B,
Lindstrom K,
Manickam K,
Mardach R,
McCormick E,
McLeod DR,
Mentch FD,
Minks K,
Muraresku C,
Nelson SF,
Porazzi P,
Pichurin PN,
Powell-Hamilton NN,
Powis Z,
Ritter A,
Rogers C,
Rohena L,
Ronspies C,
Schroeder A,
Stark Z,
Starr L,
Stoler J,
Suwannarat P,
Velinov M,
Weksberg R,
Wilnai Y,
Zadeh N,
Zand DJ,
Falk MJ,
Hakonarson H,
Zackai EH,
Quintero-Rivera F
Am J Med Genet A
2021 Jun;185(6):1649-1665.
Epub 2021 Mar 30
doi: 10.1002/ajmg.a.62124.
PMID: 33783954Free PMC Article
Harris HK,
Nakayama T,
Lai J,
Zhao B,
Argyrou N,
Gubbels CS,
Soucy A,
Genetti CA,
Suslovitch V,
Rodan LH,
Tiller GE,
Lesca G,
Gripp KW,
Asadollahi R,
Hamosh A,
Applegate CD,
Turnpenny PD,
Simon MEH,
Volker-Touw CML,
Gassen KLIV,
Binsbergen EV,
Pfundt R,
Gardeitchik T,
Vries BBA,
Immken LL,
Buchanan C,
Willing M,
Toler TL,
Fassi E,
Baker L,
Vansenne F,
Wang X,
Ambrus JL Jr,
Fannemel M,
Posey JE,
Agolini E,
Novelli A,
Rauch A,
Boonsawat P,
Fagerberg CR,
Larsen MJ,
Kibaek M,
Labalme A,
Poisson A,
Payne KK,
Walsh LE,
Aldinger KA,
Balciuniene J,
Skraban C,
Gray C,
Murrell J,
Bupp CP,
Pascolini G,
Grammatico P,
Broly M,
Küry S,
Nizon M,
Rasool IG,
Zahoor MY,
Kraus C,
Reis A,
Iqbal M,
Uguen K,
Audebert-Bellanger S,
Ferec C,
Redon S,
Baker J,
Wu Y,
Zampino G,
Syrbe S,
Brosse I,
Jamra RA,
Dobyns WB,
Cohen LL,
Blomhoff A,
Mignot C,
Keren B,
Courtin T,
Agrawal PB,
Beggs AH,
Yu TW
Genet Med
2021 Jun;23(6):1028-1040.
Epub 2021 Mar 3
doi: 10.1038/s41436-021-01114-z.
PMID: 33658631Free PMC Article
Zollino M,
Zweier C,
Van Balkom ID,
Sweetser DA,
Alaimo J,
Bijlsma EK,
Cody J,
Elsea SH,
Giurgea I,
Macchiaiolo M,
Smigiel R,
Thibert RL,
Benoist I,
Clayton-Smith J,
De Winter CF,
Deckers S,
Gandhi A,
Huisman S,
Kempink D,
Kruisinga F,
Lamacchia V,
Marangi G,
Menke L,
Mulder P,
Nordgren A,
Renieri A,
Routledge S,
Saunders CJ,
Stembalska A,
Van Balkom H,
Whalen S,
Hennekam RC
Clin Genet
2019 Apr;95(4):462-478.
Epub 2019 Feb 18
doi: 10.1111/cge.13506.
PMID: 30677142
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
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
des Portes V
Handb Clin Neurol
2020;174:113-126.
doi: 10.1016/B978-0-444-64148-9.00009-0.
PMID: 32977872
Zollino M,
Zweier C,
Van Balkom ID,
Sweetser DA,
Alaimo J,
Bijlsma EK,
Cody J,
Elsea SH,
Giurgea I,
Macchiaiolo M,
Smigiel R,
Thibert RL,
Benoist I,
Clayton-Smith J,
De Winter CF,
Deckers S,
Gandhi A,
Huisman S,
Kempink D,
Kruisinga F,
Lamacchia V,
Marangi G,
Menke L,
Mulder P,
Nordgren A,
Renieri A,
Routledge S,
Saunders CJ,
Stembalska A,
Van Balkom H,
Whalen S,
Hennekam RC
Clin Genet
2019 Apr;95(4):462-478.
Epub 2019 Feb 18
doi: 10.1111/cge.13506.
PMID: 30677142
Ciaccio C,
Fontana L,
Milani D,
Tabano S,
Miozzo M,
Esposito S
Ital J Pediatr
2017 Apr 19;43(1):39.
doi: 10.1186/s13052-017-0355-y.
PMID: 28420439Free PMC Article
Godbole K,
Maja S,
Leena H,
Martin Z
Indian Pediatr
2013 May 8;50(5):510-2.
PMID: 23778732
Therapy
Petriti U,
Dudman DC,
Scosyrev E,
Lopez-Leon S
Syst Rev
2023 Jan 16;12(1):5.
doi: 10.1186/s13643-023-02169-6.
PMID: 36642718Free PMC Article
Elhawary NA,
AlJahdali IA,
Abumansour IS,
Elhawary EN,
Gaboon N,
Dandini M,
Madkhali A,
Alosaimi W,
Alzahrani A,
Aljohani F,
Melibary EM,
Kensara OA
Hum Genomics
2022 Jul 19;16(1):22.
doi: 10.1186/s40246-022-00398-9.
PMID: 35854334Free PMC Article
Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS
Brain
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
PMID: 34431999Free PMC Article
Di Stefano V,
Rispoli MG,
Pellegrino N,
Graziosi A,
Rotondo E,
Napoli C,
Pietrobon D,
Brighina F,
Parisi P
J Neurol Neurosurg Psychiatry
2020 Jul;91(7):764-771.
Epub 2020 May 19
doi: 10.1136/jnnp-2020-322850.
PMID: 32430436Free PMC Article
Zhu J,
Eichler F,
Biffi A,
Duncan CN,
Williams DA,
Majzoub JA
Endocr Rev
2020 Aug 1;41(4):577-93.
doi: 10.1210/endrev/bnaa013.
PMID: 32364223Free PMC Article
Prognosis
Cuinat S,
Nizon M,
Isidor B,
Stegmann A,
van Jaarsveld RH,
van Gassen KL,
van der Smagt JJ,
Volker-Touw CML,
Holwerda SJB,
Terhal PA,
Schuhmann S,
Vasileiou G,
Khalifa M,
Nugud AA,
Yasaei H,
Ousager LB,
Brasch-Andersen C,
Deb W,
Besnard T,
Simon MEH,
Amsterdam KH,
Verbeek NE,
Matalon D,
Dykzeul N,
White S,
Spiteri E,
Devriendt K,
Boogaerts A,
Willemsen M,
Brunner HG,
Sinnema M,
De Vries BBA,
Gerkes EH,
Pfundt R,
Izumi K,
Krantz ID,
Xu ZL,
Murrell JR,
Valenzuela I,
Cusco I,
Rovira-Moreno E,
Yang Y,
Bizaoui V,
Patat O,
Faivre L,
Tran-Mau-Them F,
Vitobello A,
Denommé-Pichon AS,
Philippe C,
Bezieau S,
Cogné B
Genet Med
2022 Aug;24(8):1774-1780.
Epub 2022 May 14
doi: 10.1016/j.gim.2022.04.011.
PMID: 35567594
Höybye C,
Tauber M
J Clin Endocrinol Metab
2022 May 17;107(6):1698-1705.
doi: 10.1210/clinem/dgac082.
PMID: 35150573Free PMC Article
Johannesen KM,
Liu Y,
Koko M,
Gjerulfsen CE,
Sonnenberg L,
Schubert J,
Fenger CD,
Eltokhi A,
Rannap M,
Koch NA,
Lauxmann S,
Krüger J,
Kegele J,
Canafoglia L,
Franceschetti S,
Mayer T,
Rebstock J,
Zacher P,
Ruf S,
Alber M,
Sterbova K,
Lassuthová P,
Vlckova M,
Lemke JR,
Platzer K,
Krey I,
Heine C,
Wieczorek D,
Kroell-Seger J,
Lund C,
Klein KM,
Au PYB,
Rho JM,
Ho AW,
Masnada S,
Veggiotti P,
Giordano L,
Accorsi P,
Hoei-Hansen CE,
Striano P,
Zara F,
Verhelst H,
Verhoeven JS,
Braakman HMH,
van der Zwaag B,
Harder AVE,
Brilstra E,
Pendziwiat M,
Lebon S,
Vaccarezza M,
Le NM,
Christensen J,
Grønborg S,
Scherer SW,
Howe J,
Fazeli W,
Howell KB,
Leventer R,
Stutterd C,
Walsh S,
Gerard M,
Gerard B,
Matricardi S,
Bonardi CM,
Sartori S,
Berger A,
Hoffman-Zacharska D,
Mastrangelo M,
Darra F,
Vøllo A,
Motazacker MM,
Lakeman P,
Nizon M,
Betzler C,
Altuzarra C,
Caume R,
Roubertie A,
Gélisse P,
Marini C,
Guerrini R,
Bilan F,
Tibussek D,
Koch-Hogrebe M,
Perry MS,
Ichikawa S,
Dadali E,
Sharkov A,
Mishina I,
Abramov M,
Kanivets I,
Korostelev S,
Kutsev S,
Wain KE,
Eisenhauer N,
Wagner M,
Savatt JM,
Müller-Schlüter K,
Bassan H,
Borovikov A,
Nassogne MC,
Destrée A,
Schoonjans AS,
Meuwissen M,
Buzatu M,
Jansen A,
Scalais E,
Srivastava S,
Tan WH,
Olson HE,
Loddenkemper T,
Poduri A,
Helbig KL,
Helbig I,
Fitzgerald MP,
Goldberg EM,
Roser T,
Borggraefe I,
Brünger T,
May P,
Lal D,
Lederer D,
Rubboli G,
Heyne HO,
Lesca G,
Hedrich UBS,
Benda J,
Gardella E,
Lerche H,
Møller RS
Brain
2022 Sep 14;145(9):2991-3009.
doi: 10.1093/brain/awab321.
PMID: 34431999Free PMC Article
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Jaganathan K,
Kyriazopoulou Panagiotopoulou S,
McRae JF,
Darbandi SF,
Knowles D,
Li YI,
Kosmicki JA,
Arbelaez J,
Cui W,
Schwartz GB,
Chow ED,
Kanterakis E,
Gao H,
Kia A,
Batzoglou S,
Sanders SJ,
Farh KK
Cell
2019 Jan 24;176(3):535-548.e24.
Epub 2019 Jan 17
doi: 10.1016/j.cell.2018.12.015.
PMID: 30661751
Clinical prediction guides
Cuinat S,
Nizon M,
Isidor B,
Stegmann A,
van Jaarsveld RH,
van Gassen KL,
van der Smagt JJ,
Volker-Touw CML,
Holwerda SJB,
Terhal PA,
Schuhmann S,
Vasileiou G,
Khalifa M,
Nugud AA,
Yasaei H,
Ousager LB,
Brasch-Andersen C,
Deb W,
Besnard T,
Simon MEH,
Amsterdam KH,
Verbeek NE,
Matalon D,
Dykzeul N,
White S,
Spiteri E,
Devriendt K,
Boogaerts A,
Willemsen M,
Brunner HG,
Sinnema M,
De Vries BBA,
Gerkes EH,
Pfundt R,
Izumi K,
Krantz ID,
Xu ZL,
Murrell JR,
Valenzuela I,
Cusco I,
Rovira-Moreno E,
Yang Y,
Bizaoui V,
Patat O,
Faivre L,
Tran-Mau-Them F,
Vitobello A,
Denommé-Pichon AS,
Philippe C,
Bezieau S,
Cogné B
Genet Med
2022 Aug;24(8):1774-1780.
Epub 2022 May 14
doi: 10.1016/j.gim.2022.04.011.
PMID: 35567594
Kessi M,
Chen B,
Peng J,
Yan F,
Yang L,
Yin F
Orphanet J Rare Dis
2021 May 13;16(1):219.
doi: 10.1186/s13023-021-01850-0.
PMID: 33985586Free PMC Article
Sheppard SE,
Campbell IM,
Harr MH,
Gold N,
Li D,
Bjornsson HT,
Cohen JS,
Fahrner JA,
Fatemi A,
Harris JR,
Nowak C,
Stevens CA,
Grand K,
Au M,
Graham JM Jr,
Sanchez-Lara PA,
Campo MD,
Jones MC,
Abdul-Rahman O,
Alkuraya FS,
Bassetti JA,
Bergstrom K,
Bhoj E,
Dugan S,
Kaplan JD,
Derar N,
Gripp KW,
Hauser N,
Innes AM,
Keena B,
Kodra N,
Miller R,
Nelson B,
Nowaczyk MJ,
Rahbeeni Z,
Ben-Shachar S,
Shieh JT,
Slavotinek A,
Sobering AK,
Abbott MA,
Allain DC,
Amlie-Wolf L,
Au PYB,
Bedoukian E,
Beek G,
Barry J,
Berg J,
Bernstein JA,
Cytrynbaum C,
Chung BH,
Donoghue S,
Dorrani N,
Eaton A,
Flores-Daboub JA,
Dubbs H,
Felix CA,
Fong CT,
Fung JLF,
Gangaram B,
Goldstein A,
Greenberg R,
Ha TK,
Hersh J,
Izumi K,
Kallish S,
Kravets E,
Kwok PY,
Jobling RK,
Knight Johnson AE,
Kushner J,
Lee BH,
Levin B,
Lindstrom K,
Manickam K,
Mardach R,
McCormick E,
McLeod DR,
Mentch FD,
Minks K,
Muraresku C,
Nelson SF,
Porazzi P,
Pichurin PN,
Powell-Hamilton NN,
Powis Z,
Ritter A,
Rogers C,
Rohena L,
Ronspies C,
Schroeder A,
Stark Z,
Starr L,
Stoler J,
Suwannarat P,
Velinov M,
Weksberg R,
Wilnai Y,
Zadeh N,
Zand DJ,
Falk MJ,
Hakonarson H,
Zackai EH,
Quintero-Rivera F
Am J Med Genet A
2021 Jun;185(6):1649-1665.
Epub 2021 Mar 30
doi: 10.1002/ajmg.a.62124.
PMID: 33783954Free PMC Article
Borlot F,
Regan BM,
Bassett AS,
Stavropoulos DJ,
Andrade DM
JAMA Neurol
2017 Nov 1;74(11):1301-1311.
doi: 10.1001/jamaneurol.2017.1775.
PMID: 28846756Free PMC Article
Silve C,
Clauser E,
Linglart A
Horm Metab Res
2012 Sep;44(10):749-58.
Epub 2012 Jul 19
doi: 10.1055/s-0032-1316330.
PMID: 22815067