Etiology
Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P
Ultrasound Obstet Gynecol
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
PMID: 34358384Free PMC Article
Fortea J,
Zaman SH,
Hartley S,
Rafii MS,
Head E,
Carmona-Iragui M
Lancet Neurol
2021 Nov;20(11):930-942.
doi: 10.1016/S1474-4422(21)00245-3.
PMID: 34687637Free PMC Article
Parenti I,
Lehalle D,
Nava C,
Torti E,
Leitão E,
Person R,
Mizuguchi T,
Matsumoto N,
Kato M,
Nakamura K,
de Man SA,
Cope H,
Shashi V;
Undiagnosed Diseases Network,
Friedman J,
Joset P,
Steindl K,
Rauch A,
Muffels I,
van Hasselt PM,
Petit F,
Smol T,
Le Guyader G,
Bilan F,
Sorlin A,
Vitobello A,
Philippe C,
van de Laar IMBH,
van Slegtenhorst MA,
Campeau PM,
Au PYB,
Nakashima M,
Saitsu H,
Yamamoto T,
Nomura Y,
Louie RJ,
Lyons MJ,
Dobson A,
Plomp AS,
Motazacker MM,
Kaiser FJ,
Timberlake AT,
Fuchs SA,
Depienne C,
Mignot C
Hum Genet
2021 Jul;140(7):1109-1120.
Epub 2021 May 4
doi: 10.1007/s00439-021-02283-2.
PMID: 33944996Free 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
Jones AC,
Shyamsundar MM,
Thomas MW,
Maynard J,
Idziaszczyk S,
Tomkins S,
Sampson JR,
Cheadle JP
Am J Hum Genet
1999 May;64(5):1305-15.
doi: 10.1086/302381.
PMID: 10205261Free PMC Article
Diagnosis
Fortea J,
Zaman SH,
Hartley S,
Rafii MS,
Head E,
Carmona-Iragui M
Lancet Neurol
2021 Nov;20(11):930-942.
doi: 10.1016/S1474-4422(21)00245-3.
PMID: 34687637Free PMC Article
Cousin MA,
Creighton BA,
Breau KA,
Spillmann RC,
Torti E,
Dontu S,
Tripathi S,
Ajit D,
Edwards RJ,
Afriyie S,
Bay JC,
Harper KM,
Beltran AA,
Munoz LJ,
Falcon Rodriguez L,
Stankewich MC,
Person RE,
Si Y,
Normand EA,
Blevins A,
May AS,
Bier L,
Aggarwal V,
Mancini GMS,
van Slegtenhorst MA,
Cremer K,
Becker J,
Engels H,
Aretz S,
MacKenzie JJ,
Brilstra E,
van Gassen KLI,
van Jaarsveld RH,
Oegema R,
Parsons GM,
Mark P,
Helbig I,
McKeown SE,
Stratton R,
Cogne B,
Isidor B,
Cacheiro P,
Smedley D,
Firth HV,
Bierhals T,
Kloth K,
Weiss D,
Fairley C,
Shieh JT,
Kritzer A,
Jayakar P,
Kurtz-Nelson E,
Bernier RA,
Wang T,
Eichler EE,
van de Laar IMBH,
McConkie-Rosell A,
McDonald MT,
Kemppainen J,
Lanpher BC,
Schultz-Rogers LE,
Gunderson LB,
Pichurin PN,
Yoon G,
Zech M,
Jech R,
Winkelmann J;
Undiagnosed Diseases Network;
Genomics England Research Consortium,
Beltran AS,
Zimmermann MT,
Temple B,
Moy SS,
Klee EW,
Tan QK,
Lorenzo DN
Nat Genet
2021 Jul;53(7):1006-1021.
Epub 2021 Jul 1
doi: 10.1038/s41588-021-00886-z.
PMID: 34211179Free 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
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
Uysal SP,
Şahin M
Turk J Med Sci
2020 Nov 3;50(SI-2):1665-1676.
doi: 10.3906/sag-2002-133.
PMID: 32222129Free PMC Article
Therapy
Iulita MF,
Garzón Chavez D,
Klitgaard Christensen M,
Valle Tamayo N,
Plana-Ripoll O,
Rasmussen SA,
Roqué Figuls M,
Alcolea D,
Videla L,
Barroeta I,
Benejam B,
Altuna M,
Padilla C,
Pegueroles J,
Fernandez S,
Belbin O,
Carmona-Iragui M,
Blesa R,
Lleó A,
Bejanin A,
Fortea J
JAMA Netw Open
2022 May 2;5(5):e2212910.
doi: 10.1001/jamanetworkopen.2022.12910.
PMID: 35604690Free PMC Article
Fortea J,
Vilaplana E,
Carmona-Iragui M,
Benejam B,
Videla L,
Barroeta I,
Fernández S,
Altuna M,
Pegueroles J,
Montal V,
Valldeneu S,
Giménez S,
González-Ortiz S,
Muñoz L,
Estellés T,
Illán-Gala I,
Belbin O,
Camacho V,
Wilson LR,
Annus T,
Osorio RS,
Videla S,
Lehmann S,
Holland AJ,
Alcolea D,
Clarimón J,
Zaman SH,
Blesa R,
Lleó A
Lancet
2020 Jun 27;395(10242):1988-1997.
doi: 10.1016/S0140-6736(20)30689-9.
PMID: 32593336Free 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
Cohen FL
Nurs Clin North Am
1986 Mar;21(1):49-64.
PMID: 2937020
Warburg M
Birth Defects Orig Artic Ser
1971 Mar;7(3):136-54.
PMID: 4950916
Prognosis
Mah-Som AY,
Daw J,
Huynh D,
Wu M,
Creekmore BC,
Burns W,
Skinner SA,
Holla ØL,
Smeland MF,
Planes M,
Uguen K,
Redon S,
Bierhals T,
Scholz T,
Denecke J,
Mensah MA,
Sczakiel HL,
Tichy H,
Verheyen S,
Blatterer J,
Schreiner E,
Thies J,
Lam C,
Spaeth CG,
Pena L,
Ramsey K,
Narayanan V,
Seaver LH,
Rodriguez D,
Afenjar A,
Burglen L,
Lee EB,
Chou TF,
Weihl CC,
Shinawi MS
Am J Hum Genet
2023 Nov 2;110(11):1959-1975.
Epub 2023 Oct 25
doi: 10.1016/j.ajhg.2023.10.007.
PMID: 37883978Free PMC Article
Cherian A,
K P D,
Vijayaraghavan A
Curr Opin Neurol
2023 Aug 1;36(4):292-301.
Epub 2023 May 24
doi: 10.1097/WCO.0000000000001167.
PMID: 37366140
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Fortea J,
Vilaplana E,
Carmona-Iragui M,
Benejam B,
Videla L,
Barroeta I,
Fernández S,
Altuna M,
Pegueroles J,
Montal V,
Valldeneu S,
Giménez S,
González-Ortiz S,
Muñoz L,
Estellés T,
Illán-Gala I,
Belbin O,
Camacho V,
Wilson LR,
Annus T,
Osorio RS,
Videla S,
Lehmann S,
Holland AJ,
Alcolea D,
Clarimón J,
Zaman SH,
Blesa R,
Lleó A
Lancet
2020 Jun 27;395(10242):1988-1997.
doi: 10.1016/S0140-6736(20)30689-9.
PMID: 32593336Free PMC Article
Jones AC,
Shyamsundar MM,
Thomas MW,
Maynard J,
Idziaszczyk S,
Tomkins S,
Sampson JR,
Cheadle JP
Am J Hum Genet
1999 May;64(5):1305-15.
doi: 10.1086/302381.
PMID: 10205261Free PMC Article
Clinical prediction guides
Cherian A,
K P D,
Vijayaraghavan A
Curr Opin Neurol
2023 Aug 1;36(4):292-301.
Epub 2023 May 24
doi: 10.1097/WCO.0000000000001167.
PMID: 37366140
Langhammer F,
Maroofian R,
Badar R,
Gregor A,
Rochman M,
Ratliff JB,
Koopmans M,
Herget T,
Hempel M,
Kortüm F,
Heron D,
Mignot C,
Keren B,
Brooks S,
Botti C,
Ben-Zeev B,
Argilli E,
Sherr EH,
Gowda VK,
Srinivasan VM,
Bakhtiari S,
Kruer MC,
Salih MA,
Kuechler A,
Muller EA,
Blocker K,
Kuismin O,
Park KL,
Kochhar A,
Brown K,
Ramanathan S,
Clark RD,
Elgizouli M,
Melikishvili G,
Tabatadze N,
Stark Z,
Mirzaa GM,
Ong J,
Grasshoff U,
Bevot A,
von Wintzingerode L,
Jamra RA,
Hennig Y,
Goldenberg P,
Al Alam C,
Charif M,
Boulouiz R,
Bellaoui M,
Amrani R,
Al Mutairi F,
Tamim AM,
Abdulwahab F,
Alkuraya FS,
Khouj EM,
Alvi JR,
Sultan T,
Hashemi N,
Karimiani EG,
Ashrafzadeh F,
Imannezhad S,
Efthymiou S,
Houlden H,
Sticht H,
Zweier C
Genet Med
2023 Aug;25(8):100885.
Epub 2023 May 8
doi: 10.1016/j.gim.2023.100885.
PMID: 37165955
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Cousin MA,
Creighton BA,
Breau KA,
Spillmann RC,
Torti E,
Dontu S,
Tripathi S,
Ajit D,
Edwards RJ,
Afriyie S,
Bay JC,
Harper KM,
Beltran AA,
Munoz LJ,
Falcon Rodriguez L,
Stankewich MC,
Person RE,
Si Y,
Normand EA,
Blevins A,
May AS,
Bier L,
Aggarwal V,
Mancini GMS,
van Slegtenhorst MA,
Cremer K,
Becker J,
Engels H,
Aretz S,
MacKenzie JJ,
Brilstra E,
van Gassen KLI,
van Jaarsveld RH,
Oegema R,
Parsons GM,
Mark P,
Helbig I,
McKeown SE,
Stratton R,
Cogne B,
Isidor B,
Cacheiro P,
Smedley D,
Firth HV,
Bierhals T,
Kloth K,
Weiss D,
Fairley C,
Shieh JT,
Kritzer A,
Jayakar P,
Kurtz-Nelson E,
Bernier RA,
Wang T,
Eichler EE,
van de Laar IMBH,
McConkie-Rosell A,
McDonald MT,
Kemppainen J,
Lanpher BC,
Schultz-Rogers LE,
Gunderson LB,
Pichurin PN,
Yoon G,
Zech M,
Jech R,
Winkelmann J;
Undiagnosed Diseases Network;
Genomics England Research Consortium,
Beltran AS,
Zimmermann MT,
Temple B,
Moy SS,
Klee EW,
Tan QK,
Lorenzo DN
Nat Genet
2021 Jul;53(7):1006-1021.
Epub 2021 Jul 1
doi: 10.1038/s41588-021-00886-z.
PMID: 34211179Free 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