Etiology
Sullivan JA,
Schoch K,
Spillmann RC,
Shashi V
Annu Rev Med
2023 Jan 27;74:489-502.
doi: 10.1146/annurev-med-042921-110721.
PMID: 36706750Free PMC Article
Braverman AC,
Mittauer E,
Harris KM,
Evangelista A,
Pyeritz RE,
Brinster D,
Conklin L,
Suzuki T,
Fanola C,
Ouzounian M,
Chen E,
Myrmel T,
Bekeredjian R,
Hutchison S,
Coselli J,
Gilon D,
O'Gara P,
Davis M,
Isselbacher E,
Eagle K
JAMA Cardiol
2021 Jan 1;6(1):58-66.
doi: 10.1001/jamacardio.2020.4876.
PMID: 33052376Free PMC Article
Contrepois K,
Wu S,
Moneghetti KJ,
Hornburg D,
Ahadi S,
Tsai MS,
Metwally AA,
Wei E,
Lee-McMullen B,
Quijada JV,
Chen S,
Christle JW,
Ellenberger M,
Balliu B,
Taylor S,
Durrant MG,
Knowles DA,
Choudhry H,
Ashland M,
Bahmani A,
Enslen B,
Amsallem M,
Kobayashi Y,
Avina M,
Perelman D,
Schüssler-Fiorenza Rose SM,
Zhou W,
Ashley EA,
Montgomery SB,
Chaib H,
Haddad F,
Snyder MP
Cell
2020 May 28;181(5):1112-1130.e16.
doi: 10.1016/j.cell.2020.04.043.
PMID: 32470399Free PMC Article
Frésard L,
Smail C,
Ferraro NM,
Teran NA,
Li X,
Smith KS,
Bonner D,
Kernohan KD,
Marwaha S,
Zappala Z,
Balliu B,
Davis JR,
Liu B,
Prybol CJ,
Kohler JN,
Zastrow DB,
Reuter CM,
Fisk DG,
Grove ME,
Davidson JM,
Hartley T,
Joshi R,
Strober BJ,
Utiramerur S;
Undiagnosed Diseases Network;
Care4Rare Canada Consortium,
Lind L,
Ingelsson E,
Battle A,
Bejerano G,
Bernstein JA,
Ashley EA,
Boycott KM,
Merker JD,
Wheeler MT,
Montgomery SB
Nat Med
2019 Jun;25(6):911-919.
Epub 2019 Jun 3
doi: 10.1038/s41591-019-0457-8.
PMID: 31160820Free PMC Article
Karaca E,
Harel T,
Pehlivan D,
Jhangiani SN,
Gambin T,
Coban Akdemir Z,
Gonzaga-Jauregui C,
Erdin S,
Bayram Y,
Campbell IM,
Hunter JV,
Atik MM,
Van Esch H,
Yuan B,
Wiszniewski W,
Isikay S,
Yesil G,
Yuregir OO,
Tug Bozdogan S,
Aslan H,
Aydin H,
Tos T,
Aksoy A,
De Vivo DC,
Jain P,
Geckinli BB,
Sezer O,
Gul D,
Durmaz B,
Cogulu O,
Ozkinay F,
Topcu V,
Candan S,
Cebi AH,
Ikbal M,
Yilmaz Gulec E,
Gezdirici A,
Koparir E,
Ekici F,
Coskun S,
Cicek S,
Karaer K,
Koparir A,
Duz MB,
Kirat E,
Fenercioglu E,
Ulucan H,
Seven M,
Guran T,
Elcioglu N,
Yildirim MS,
Aktas D,
Alikaşifoğlu M,
Ture M,
Yakut T,
Overton JD,
Yuksel A,
Ozen M,
Muzny DM,
Adams DR,
Boerwinkle E,
Chung WK,
Gibbs RA,
Lupski JR
Neuron
2015 Nov 4;88(3):499-513.
doi: 10.1016/j.neuron.2015.09.048.
PMID: 26539891Free PMC Article
Diagnosis
Talbert ML,
Malicdan MCV,
Introne WJ
Curr Opin Hematol
2023 Jul 1;30(4):144-151.
Epub 2023 Apr 25
doi: 10.1097/MOH.0000000000000766.
PMID: 37254856Free PMC Article
Sullivan JA,
Schoch K,
Spillmann RC,
Shashi V
Annu Rev Med
2023 Jan 27;74:489-502.
doi: 10.1146/annurev-med-042921-110721.
PMID: 36706750Free PMC Article
Marwaha S,
Knowles JW,
Ashley EA
Genome Med
2022 Feb 28;14(1):23.
doi: 10.1186/s13073-022-01026-w.
PMID: 35220969Free PMC Article
Diamond-Fox S,
Bone H
Br J Nurs
2021 May 13;30(9):526-532.
doi: 10.12968/bjon.2021.30.9.526.
PMID: 33983801
Whicher CA,
O'Neill S,
Holt RIG
Diabet Med
2020 Feb;37(2):242-247.
doi: 10.1111/dme.14225.
PMID: 31901175
Therapy
Doglio M,
Crossland RE,
Alho AC,
Penack O,
Dickinson AM,
Stary G,
Lacerda JF,
Eissner G,
Inngjerdingen M
Front Immunol
2022;13:1045168.
Epub 2022 Nov 17
doi: 10.3389/fimmu.2022.1045168.
PMID: 36466922Free PMC Article
Zhang M,
Wong SW,
Wright JN,
Wagner MW,
Toescu S,
Han M,
Tam LT,
Zhou Q,
Ahmadian SS,
Shpanskaya K,
Lummus S,
Lai H,
Eghbal A,
Radmanesh A,
Nemelka J,
Harward S 2nd,
Malinzak M,
Laughlin S,
Perreault S,
Braun KRM,
Lober RM,
Cho YJ,
Ertl-Wagner B,
Ho CY,
Mankad K,
Vogel H,
Cheshier SH,
Jacques TS,
Aquilina K,
Fisher PG,
Taylor M,
Poussaint T,
Vitanza NA,
Grant GA,
Pfister S,
Thompson E,
Jaju A,
Ramaswamy V,
Yeom KW
Radiology
2022 Aug;304(2):406-416.
Epub 2022 Apr 19
doi: 10.1148/radiol.212137.
PMID: 35438562Free PMC Article
Murdock DR,
Dai H,
Burrage LC,
Rosenfeld JA,
Ketkar S,
Müller MF,
Yépez VA,
Gagneur J,
Liu P,
Chen S,
Jain M,
Zapata G,
Bacino CA,
Chao HT,
Moretti P,
Craigen WJ,
Hanchard NA;
Undiagnosed Diseases Network,
Lee B
J Clin Invest
2021 Jan 4;131(1)
doi: 10.1172/JCI141500.
PMID: 33001864Free PMC Article
Miller J,
McNaughton C,
Joyce K,
Binz S,
Levy P
Am J Hypertens
2020 Oct 21;33(10):927-934.
doi: 10.1093/ajh/hpaa068.
PMID: 32307541Free PMC Article
de Jesus AA,
Hou Y,
Brooks S,
Malle L,
Biancotto A,
Huang Y,
Calvo KR,
Marrero B,
Moir S,
Oler AJ,
Deng Z,
Montealegre Sanchez GA,
Ahmed A,
Allenspach E,
Arabshahi B,
Behrens E,
Benseler S,
Bezrodnik L,
Bout-Tabaku S,
Brescia AC,
Brown D,
Burnham JM,
Caldirola MS,
Carrasco R,
Chan AY,
Cimaz R,
Dancey P,
Dare J,
DeGuzman M,
Dimitriades V,
Ferguson I,
Ferguson P,
Finn L,
Gattorno M,
Grom AA,
Hanson EP,
Hashkes PJ,
Hedrich CM,
Herzog R,
Horneff G,
Jerath R,
Kessler E,
Kim H,
Kingsbury DJ,
Laxer RM,
Lee PY,
Lee-Kirsch MA,
Lewandowski L,
Li S,
Lilleby V,
Mammadova V,
Moorthy LN,
Nasrullayeva G,
O'Neil KM,
Onel K,
Ozen S,
Pan N,
Pillet P,
Piotto DG,
Punaro MG,
Reiff A,
Reinhardt A,
Rider LG,
Rivas-Chacon R,
Ronis T,
Rösen-Wolff A,
Roth J,
Ruth NM,
Rygg M,
Schmeling H,
Schulert G,
Scott C,
Seminario G,
Shulman A,
Sivaraman V,
Son MB,
Stepanovskiy Y,
Stringer E,
Taber S,
Terreri MT,
Tifft C,
Torgerson T,
Tosi L,
Van Royen-Kerkhof A,
Wampler Muskardin T,
Canna SW,
Goldbach-Mansky R
J Clin Invest
2020 Apr 1;130(4):1669-1682.
doi: 10.1172/JCI129301.
PMID: 31874111Free PMC Article
Prognosis
Nurk S,
Koren S,
Rhie A,
Rautiainen M,
Bzikadze AV,
Mikheenko A,
Vollger MR,
Altemose N,
Uralsky L,
Gershman A,
Aganezov S,
Hoyt SJ,
Diekhans M,
Logsdon GA,
Alonge M,
Antonarakis SE,
Borchers M,
Bouffard GG,
Brooks SY,
Caldas GV,
Chen NC,
Cheng H,
Chin CS,
Chow W,
de Lima LG,
Dishuck PC,
Durbin R,
Dvorkina T,
Fiddes IT,
Formenti G,
Fulton RS,
Fungtammasan A,
Garrison E,
Grady PGS,
Graves-Lindsay TA,
Hall IM,
Hansen NF,
Hartley GA,
Haukness M,
Howe K,
Hunkapiller MW,
Jain C,
Jain M,
Jarvis ED,
Kerpedjiev P,
Kirsche M,
Kolmogorov M,
Korlach J,
Kremitzki M,
Li H,
Maduro VV,
Marschall T,
McCartney AM,
McDaniel J,
Miller DE,
Mullikin JC,
Myers EW,
Olson ND,
Paten B,
Peluso P,
Pevzner PA,
Porubsky D,
Potapova T,
Rogaev EI,
Rosenfeld JA,
Salzberg SL,
Schneider VA,
Sedlazeck FJ,
Shafin K,
Shew CJ,
Shumate A,
Sims Y,
Smit AFA,
Soto DC,
Sović I,
Storer JM,
Streets A,
Sullivan BA,
Thibaud-Nissen F,
Torrance J,
Wagner J,
Walenz BP,
Wenger A,
Wood JMD,
Xiao C,
Yan SM,
Young AC,
Zarate S,
Surti U,
McCoy RC,
Dennis MY,
Alexandrov IA,
Gerton JL,
O'Neill RJ,
Timp W,
Zook JM,
Schatz MC,
Eichler EE,
Miga KH,
Phillippy AM
Science
2022 Apr;376(6588):44-53.
Epub 2022 Mar 31
doi: 10.1126/science.abj6987.
PMID: 35357919Free PMC Article
Galosi S,
Edani BH,
Martinelli S,
Hansikova H,
Eklund EA,
Caputi C,
Masuelli L,
Corsten-Janssen N,
Srour M,
Oegema R,
Bosch DGM,
Ellis CA,
Amlie-Wolf L,
Accogli A,
Atallah I,
Averdunk L,
Barañano KW,
Bei R,
Bagnasco I,
Brusco A,
Demarest S,
Alaix AS,
Di Bonaventura C,
Distelmaier F,
Elmslie F,
Gan-Or Z,
Good JM,
Gripp K,
Kamsteeg EJ,
Macnamara E,
Marcelis C,
Mercier N,
Peeden J,
Pizzi S,
Pannone L,
Shinawi M,
Toro C,
Verbeek NE,
Venkateswaran S,
Wheeler PG,
Zdrazilova L,
Zhang R,
Zorzi G,
Guerrini R,
Sessa WC,
Lefeber DJ,
Tartaglia M,
Hamdan FF,
Grabińska KA,
Leuzzi V
Brain
2022 Mar 29;145(1):208-223.
doi: 10.1093/brain/awab299.
PMID: 34382076Free PMC Article
Braverman AC,
Mittauer E,
Harris KM,
Evangelista A,
Pyeritz RE,
Brinster D,
Conklin L,
Suzuki T,
Fanola C,
Ouzounian M,
Chen E,
Myrmel T,
Bekeredjian R,
Hutchison S,
Coselli J,
Gilon D,
O'Gara P,
Davis M,
Isselbacher E,
Eagle K
JAMA Cardiol
2021 Jan 1;6(1):58-66.
doi: 10.1001/jamacardio.2020.4876.
PMID: 33052376Free PMC Article
Contrepois K,
Wu S,
Moneghetti KJ,
Hornburg D,
Ahadi S,
Tsai MS,
Metwally AA,
Wei E,
Lee-McMullen B,
Quijada JV,
Chen S,
Christle JW,
Ellenberger M,
Balliu B,
Taylor S,
Durrant MG,
Knowles DA,
Choudhry H,
Ashland M,
Bahmani A,
Enslen B,
Amsallem M,
Kobayashi Y,
Avina M,
Perelman D,
Schüssler-Fiorenza Rose SM,
Zhou W,
Ashley EA,
Montgomery SB,
Chaib H,
Haddad F,
Snyder MP
Cell
2020 May 28;181(5):1112-1130.e16.
doi: 10.1016/j.cell.2020.04.043.
PMID: 32470399Free PMC Article
Paine I,
Posey JE,
Grochowski CM,
Jhangiani SN,
Rosenheck S,
Kleyner R,
Marmorale T,
Yoon M,
Wang K,
Robison R,
Cappuccio G,
Pinelli M,
Magli A,
Coban Akdemir Z,
Hui J,
Yeung WL,
Wong BKY,
Ortega L,
Bekheirnia MR,
Bierhals T,
Hempel M,
Johannsen J,
Santer R,
Aktas D,
Alikasifoglu M,
Bozdogan S,
Aydin H,
Karaca E,
Bayram Y,
Ityel H,
Dorschner M,
White JJ,
Wilichowski E,
Wortmann SB,
Casella EB,
Kitajima JP,
Kok F,
Monteiro F,
Muzny DM,
Bamshad M,
Gibbs RA,
Sutton VR;
University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program,
Van Esch H,
Brunetti-Pierri N,
Hildebrandt F,
Brautbar A,
Van den Veyver IB,
Glass I,
Lessel D,
Lyon GJ,
Lupski JR
Am J Hum Genet
2019 Aug 1;105(2):302-316.
Epub 2019 Jun 27
doi: 10.1016/j.ajhg.2019.06.001.
PMID: 31256877Free PMC Article
Clinical prediction guides
Nurk S,
Koren S,
Rhie A,
Rautiainen M,
Bzikadze AV,
Mikheenko A,
Vollger MR,
Altemose N,
Uralsky L,
Gershman A,
Aganezov S,
Hoyt SJ,
Diekhans M,
Logsdon GA,
Alonge M,
Antonarakis SE,
Borchers M,
Bouffard GG,
Brooks SY,
Caldas GV,
Chen NC,
Cheng H,
Chin CS,
Chow W,
de Lima LG,
Dishuck PC,
Durbin R,
Dvorkina T,
Fiddes IT,
Formenti G,
Fulton RS,
Fungtammasan A,
Garrison E,
Grady PGS,
Graves-Lindsay TA,
Hall IM,
Hansen NF,
Hartley GA,
Haukness M,
Howe K,
Hunkapiller MW,
Jain C,
Jain M,
Jarvis ED,
Kerpedjiev P,
Kirsche M,
Kolmogorov M,
Korlach J,
Kremitzki M,
Li H,
Maduro VV,
Marschall T,
McCartney AM,
McDaniel J,
Miller DE,
Mullikin JC,
Myers EW,
Olson ND,
Paten B,
Peluso P,
Pevzner PA,
Porubsky D,
Potapova T,
Rogaev EI,
Rosenfeld JA,
Salzberg SL,
Schneider VA,
Sedlazeck FJ,
Shafin K,
Shew CJ,
Shumate A,
Sims Y,
Smit AFA,
Soto DC,
Sović I,
Storer JM,
Streets A,
Sullivan BA,
Thibaud-Nissen F,
Torrance J,
Wagner J,
Walenz BP,
Wenger A,
Wood JMD,
Xiao C,
Yan SM,
Young AC,
Zarate S,
Surti U,
McCoy RC,
Dennis MY,
Alexandrov IA,
Gerton JL,
O'Neill RJ,
Timp W,
Zook JM,
Schatz MC,
Eichler EE,
Miga KH,
Phillippy AM
Science
2022 Apr;376(6588):44-53.
Epub 2022 Mar 31
doi: 10.1126/science.abj6987.
PMID: 35357919Free 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
Contrepois K,
Wu S,
Moneghetti KJ,
Hornburg D,
Ahadi S,
Tsai MS,
Metwally AA,
Wei E,
Lee-McMullen B,
Quijada JV,
Chen S,
Christle JW,
Ellenberger M,
Balliu B,
Taylor S,
Durrant MG,
Knowles DA,
Choudhry H,
Ashland M,
Bahmani A,
Enslen B,
Amsallem M,
Kobayashi Y,
Avina M,
Perelman D,
Schüssler-Fiorenza Rose SM,
Zhou W,
Ashley EA,
Montgomery SB,
Chaib H,
Haddad F,
Snyder MP
Cell
2020 May 28;181(5):1112-1130.e16.
doi: 10.1016/j.cell.2020.04.043.
PMID: 32470399Free PMC Article
Lorenzini T,
Fliegauf M,
Klammer N,
Frede N,
Proietti M,
Bulashevska A,
Camacho-Ordonez N,
Varjosalo M,
Kinnunen M,
de Vries E,
van der Meer JWM,
Ameratunga R,
Roifman CM,
Schejter YD,
Kobbe R,
Hautala T,
Atschekzei F,
Schmidt RE,
Schröder C,
Stepensky P,
Shadur B,
Pedroza LA,
van der Flier M,
Martínez-Gallo M,
Gonzalez-Granado LI,
Allende LM,
Shcherbina A,
Kuzmenko N,
Zakharova V,
Neves JF,
Svec P,
Fischer U,
Ip W,
Bartsch O,
Barış S,
Klein C,
Geha R,
Chou J,
Alosaimi M,
Weintraub L,
Boztug K,
Hirschmugl T,
Dos Santos Vilela MM,
Holzinger D,
Seidl M,
Lougaris V,
Plebani A,
Alsina L,
Piquer-Gibert M,
Deyà-Martínez A,
Slade CA,
Aghamohammadi A,
Abolhassani H,
Hammarström L,
Kuismin O,
Helminen M,
Allen HL,
Thaventhiran JE,
Freeman AF,
Cook M,
Bakhtiar S,
Christiansen M,
Cunningham-Rundles C,
Patel NC,
Rae W,
Niehues T,
Brauer N,
Syrjänen J,
Seppänen MRJ,
Burns SO,
Tuijnenburg P,
Kuijpers TW;
NIHR BioResource,
Warnatz K,
Grimbacher B;
NIHR BioResource
J Allergy Clin Immunol
2020 Oct;146(4):901-911.
Epub 2020 Apr 9
doi: 10.1016/j.jaci.2019.11.051.
PMID: 32278790Free PMC Article
Johnston JJ,
van der Smagt JJ,
Rosenfeld JA,
Pagnamenta AT,
Alswaid A,
Baker EH,
Blair E,
Borck G,
Brinkmann J,
Craigen W,
Dung VC,
Emrick L,
Everman DB,
van Gassen KL,
Gulsuner S,
Harr MH,
Jain M,
Kuechler A,
Leppig KA,
McDonald-McGinn DM,
Can NTB,
Peleg A,
Roeder ER,
Rogers RC,
Sagi-Dain L,
Sapp JC,
Schäffer AA,
Schanze D,
Stewart H,
Taylor JC,
Verbeek NE,
Walkiewicz MA,
Zackai EH,
Zweier C;
Members of the Undiagnosed Diseases Network,
Zenker M,
Lee B,
Biesecker LG
Genet Med
2018 Oct;20(10):1175-1185.
Epub 2018 Feb 22
doi: 10.1038/gim.2017.249.
PMID: 29469822Free PMC Article