Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

TR Rebbeck; TM Friebel; E Friedman; U Hamann; DZ Huo; A Kwong; E Olah; OI Olopade; AR Solano; SH Teo; M Thomassen; JN Weitzel; TL Chan; J Fergus; DE Goldgar; TA Kruse; I Edenir; SK Park; D Torres; EJ van Rensburg; L McGuffog; MT Parsons; G Leslie; CM Aalfs; J Abugattas; J Adlard; S Agata; K Aittomaki; L Andrews; IL Andrulis; A Arason; N Arnold; BK Arun; E Asseryanis; L Auerbach; J Azzollini; J Balmana; M Barile; RB Barkardottir; D Barrowdale; J Benitez; A Berger; R Berger; AM Blanco; KR Blazer; MJ Blok; V Bonadona; B Bonanni; AR Bradbury; C Brewer; B Buecher; SS Buys; T Caldes; A Caliebe; MA Caligo; I Campbell; SM Caputo; J Chiquette; WK Chung; KBM Claes; Margriet Collee; J Cook; R Davidson; M de la Hoya; K De Leeneer; A de Pauw; C Delnatte; O Diez; YC Ding; N Ditsch; S Domchek; CM Dorfling; C Velazquez; B Dworniczak; J Eason; DF Easton; R Eeles; H Ehrencrona; B Ejlertsen; C Engel; S Engert; DG Evans; L Faivre; L Feliubadalo; SF Ferrer; L Foretova; J Fowler; D Frost; HCR Galvao; PA Ganz; J Garber; M Gauthier-Villars; A Gehrig; AM Gerdes; P Gesta; G Giannini; S Giraud; G Glendon; AK Godwin; MH Greene; J Gronwald; A Gutierrez-Barrera; E Hahnen; J Hauke; A Henderson; J Hentschel; FBL Hogervorst; E Honisch; EN Imyanitov; C Isaacs; L Izatt; A Izquierdo; A Jakubowska; P James; R Janavicius; UB Jensen; EM John; J Vijai; K Kaczmarek; BY Karlan; K Kast; SW Kim; I Konstantopoulou; J Korach; Y Laitman; A Lasa; C Lasset; C (Conxi) Lazaro; A van der Lee; MH Lee; J Lester; F Lesueur; A Liljegren; NM Lindor; M Longy; JT Loud; KH Lu; J Lubinski; E Machackova; S Manoukian; V Mari; C Martinez-Bouzas; Z Matrai; N Mebirouk; HEJ Meijers-Heijboer; A Meindl; AR Mensenkamp; U Mickys; A Miller; M Montagna; KB Moysich; AM Mulligan; J Musinsky; SL Neuhausen; H Nevanlinna; J Ngeow; HP Nguyen; D Niederacher; HR Nielsen; FC Nielsen; RL Nussbaum; K Offit; A Ofverholm; KR Ong; A Osorio; L Papi; J Papp; B pasini; IS Pedersen; A Peixoto; N Peruga; P Peterlongo; E Pohl; N Pradhan; K Prajzendanc; F Prieur; P Pujol; P Radice; SJ Ramus; J Rantala; MU Rashid; K Rhiem; M Robson; GC Rodriguez; MT Rogers; V Rudaitis; AY Schmidt; RK Schmutzler; L Senter; PD Shah; P Sharma; LE Side; J Simard; CF Singer; AB Skytte; TP Slavin; K Snape; H Sobol; M Southey; L Steele; D Steinemann; G Sukiennicki; C Sutter; CI Szabo; YY Tan; MR Teixeira; MB Terry; A Teule; A Thomas; DL Thull; M Tischkowitz; S Tognazzo; AE Toland; S Topka; AH Trainer; N Tung; CJ van Asperen; AH van der Hout; LE van der Kolk; RB van der Luijt; M Van Heetvelde; L Varesco; R Varon-Mateeva; A Vega; C Villarreal-Garza; A von Wachenfeldt; L Walker; S Wang-Gohrke; B Wappenschmidt; BHF Weber; D Yannoukakos; SY Yoon; C Zanzottera; J Zidan; KK Zorn; CGH Selkirk; PJ Hulick; G Chenevix-Trench; AB Spurdle; AC Antoniou; KL Nathanson

doi:10.1002/humu.23406

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

TR Rebbeck, TM Friebel, E Friedman, U Hamann, DZ Huo, A Kwong, E Olah, OI Olopade, AR Solano, SH Teo, M Thomassen, JN Weitzel, TL Chan, J Fergus, DE Goldgar, TA Kruse, I Edenir, SK Park, D Torres, EJ van RensburgL McGuffog, MT Parsons, G Leslie, CM Aalfs, J Abugattas, J Adlard, S Agata, K Aittomaki, L Andrews, IL Andrulis, A Arason, N Arnold, BK Arun, E Asseryanis, L Auerbach, J Azzollini, J Balmana, M Barile, RB Barkardottir, D Barrowdale, J Benitez, A Berger, R Berger, AM Blanco, KR Blazer, MJ Blok, V Bonadona, B Bonanni, AR Bradbury, C Brewer, B Buecher, SS Buys, T Caldes, A Caliebe, MA Caligo, I Campbell, SM Caputo, J Chiquette, WK Chung, KBM Claes, Margriet Collee, J Cook, R Davidson, M de la Hoya, K De Leeneer, A de Pauw, C Delnatte, O Diez, YC Ding, N Ditsch, S Domchek, CM Dorfling, C Velazquez, B Dworniczak, J Eason, DF Easton, R Eeles, H Ehrencrona, B Ejlertsen, C Engel, S Engert, DG Evans, L Faivre, L Feliubadalo, SF Ferrer, L Foretova, J Fowler, D Frost, HCR Galvao, PA Ganz, J Garber, M Gauthier-Villars, A Gehrig, AM Gerdes, P Gesta, G Giannini, S Giraud, G Glendon, AK Godwin, MH Greene, J Gronwald, A Gutierrez-Barrera, E Hahnen, J Hauke, A Henderson, J Hentschel, FBL Hogervorst, E Honisch, EN Imyanitov, C Isaacs, L Izatt, A Izquierdo, A Jakubowska, P James, R Janavicius, UB Jensen, EM John, J Vijai, K Kaczmarek, BY Karlan, K Kast, SW Kim, I Konstantopoulou, J Korach, Y Laitman, A Lasa, C Lasset, C (Conxi) Lazaro, A van der Lee, MH Lee, J Lester, F Lesueur, A Liljegren, NM Lindor, M Longy, JT Loud, KH Lu, J Lubinski, E Machackova, S Manoukian, V Mari, C Martinez-Bouzas, Z Matrai, N Mebirouk, HEJ Meijers-Heijboer, A Meindl, AR Mensenkamp, U Mickys, A Miller, M Montagna, KB Moysich, AM Mulligan, J Musinsky, SL Neuhausen, H Nevanlinna, J Ngeow, HP Nguyen, D Niederacher, HR Nielsen, FC Nielsen, RL Nussbaum, K Offit, A Ofverholm, KR Ong, A Osorio, L Papi, J Papp, B pasini, IS Pedersen, A Peixoto, N Peruga, P Peterlongo, E Pohl, N Pradhan, K Prajzendanc, F Prieur, P Pujol, P Radice, SJ Ramus, J Rantala, MU Rashid, K Rhiem, M Robson, GC Rodriguez, MT Rogers, V Rudaitis, AY Schmidt, RK Schmutzler, L Senter, PD Shah, P Sharma, LE Side, J Simard, CF Singer, AB Skytte, TP Slavin, K Snape, H Sobol, M Southey, L Steele, D Steinemann, G Sukiennicki, C Sutter, CI Szabo, YY Tan, MR Teixeira, MB Terry, A Teule, A Thomas, DL Thull, M Tischkowitz, S Tognazzo, AE Toland, S Topka, AH Trainer, N Tung, CJ van Asperen, AH van der Hout, LE van der Kolk, RB van der Luijt, M Van Heetvelde, L Varesco, R Varon-Mateeva, A Vega, C Villarreal-Garza, A von Wachenfeldt, L Walker, S Wang-Gohrke, B Wappenschmidt, BHF Weber, D Yannoukakos, SY Yoon, C Zanzottera, J Zidan, KK Zorn, CGH Selkirk, PJ Hulick, G Chenevix-Trench, AB Spurdle, AC Antoniou, KL Nathanson

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

190 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	593-620
Number of pages	28
Journal	Human Mutation
Volume	39
Issue number	5
DOIs	https://doi.org/10.1002/humu.23406
Publication status	Published - 2018

Access to Document

10.1002/humu.23406

http://hdl.handle.net/1765/105227

Cite this

Rebbeck, TR., Friebel, TM., Friedman, E., Hamann, U., Huo, DZ., Kwong, A., Olah, E., Olopade, OI., Solano, AR., Teo, SH., Thomassen, M., Weitzel, JN., Chan, TL., Fergus, J., Goldgar, DE., Kruse, TA., Edenir, I., Park, SK., Torres, D., ... Nathanson, KL. (2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human Mutation, 39(5), 593-620. https://doi.org/10.1002/humu.23406

@article{78d5ba12329945959accc92e9e28c227,

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author = "TR Rebbeck and TM Friebel and E Friedman and U Hamann and DZ Huo and A Kwong and E Olah and OI Olopade and AR Solano and SH Teo and M Thomassen and JN Weitzel and TL Chan and J Fergus and DE Goldgar and TA Kruse and I Edenir and SK Park and D Torres and {van Rensburg}, EJ and L McGuffog and MT Parsons and G Leslie and CM Aalfs and J Abugattas and J Adlard and S Agata and K Aittomaki and L Andrews and IL Andrulis and A Arason and N Arnold and BK Arun and E Asseryanis and L Auerbach and J Azzollini and J Balmana and M Barile and RB Barkardottir and D Barrowdale and J Benitez and A Berger and R Berger and AM Blanco and KR Blazer and MJ Blok and V Bonadona and B Bonanni and AR Bradbury and C Brewer and B Buecher and SS Buys and T Caldes and A Caliebe and MA Caligo and I Campbell and SM Caputo and J Chiquette and WK Chung and KBM Claes and Margriet Collee and J Cook and R Davidson and {de la Hoya}, M and {De Leeneer}, K and {de Pauw}, A and C Delnatte and O Diez and YC Ding and N Ditsch and S Domchek and CM Dorfling and C Velazquez and B Dworniczak and J Eason and DF Easton and R Eeles and H Ehrencrona and B Ejlertsen and C Engel and S Engert and DG Evans and L Faivre and L Feliubadalo and SF Ferrer and L Foretova and J Fowler and D Frost and HCR Galvao and PA Ganz and J Garber and M Gauthier-Villars and A Gehrig and AM Gerdes and P Gesta and G Giannini and S Giraud and G Glendon and AK Godwin and MH Greene and J Gronwald and A Gutierrez-Barrera and E Hahnen and J Hauke and A Henderson and J Hentschel and FBL Hogervorst and E Honisch and EN Imyanitov and C Isaacs and L Izatt and A Izquierdo and A Jakubowska and P James and R Janavicius and UB Jensen and EM John and J Vijai and K Kaczmarek and BY Karlan and K Kast and SW Kim and I Konstantopoulou and J Korach and Y Laitman and A Lasa and C Lasset and Lazaro, {C (Conxi)} and {van der Lee}, A and MH Lee and J Lester and F Lesueur and A Liljegren and NM Lindor and M Longy and JT Loud and KH Lu and J Lubinski and E Machackova and S Manoukian and V Mari and C Martinez-Bouzas and Z Matrai and N Mebirouk and HEJ Meijers-Heijboer and A Meindl and AR Mensenkamp and U Mickys and A Miller and M Montagna and KB Moysich and AM Mulligan and J Musinsky and SL Neuhausen and H Nevanlinna and J Ngeow and HP Nguyen and D Niederacher and HR Nielsen and FC Nielsen and RL Nussbaum and K Offit and A Ofverholm and KR Ong and A Osorio and L Papi and J Papp and B pasini and IS Pedersen and A Peixoto and N Peruga and P Peterlongo and E Pohl and N Pradhan and K Prajzendanc and F Prieur and P Pujol and P Radice and SJ Ramus and J Rantala and MU Rashid and K Rhiem and M Robson and GC Rodriguez and MT Rogers and V Rudaitis and AY Schmidt and RK Schmutzler and L Senter and PD Shah and P Sharma and LE Side and J Simard and CF Singer and AB Skytte and TP Slavin and K Snape and H Sobol and M Southey and L Steele and D Steinemann and G Sukiennicki and C Sutter and CI Szabo and YY Tan and MR Teixeira and MB Terry and A Teule and A Thomas and DL Thull and M Tischkowitz and S Tognazzo and AE Toland and S Topka and AH Trainer and N Tung and {van Asperen}, CJ and {van der Hout}, AH and {van der Kolk}, LE and {van der Luijt}, RB and {Van Heetvelde}, M and L Varesco and R Varon-Mateeva and A Vega and C Villarreal-Garza and {von Wachenfeldt}, A and L Walker and S Wang-Gohrke and B Wappenschmidt and BHF Weber and D Yannoukakos and SY Yoon and C Zanzottera and J Zidan and KK Zorn and CGH Selkirk and PJ Hulick and G Chenevix-Trench and AB Spurdle and AC Antoniou and KL Nathanson",

year = "2018",

doi = "10.1002/humu.23406",

language = "Undefined/Unknown",

volume = "39",

pages = "593--620",

journal = "Human Mutation",

issn = "1059-7794",

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Rebbeck, TR, Friebel, TM, Friedman, E, Hamann, U, Huo, DZ, Kwong, A, Olah, E, Olopade, OI, Solano, AR, Teo, SH, Thomassen, M, Weitzel, JN, Chan, TL, Fergus, J, Goldgar, DE, Kruse, TA, Edenir, I, Park, SK, Torres, D, van Rensburg, EJ, McGuffog, L, Parsons, MT, Leslie, G, Aalfs, CM, Abugattas, J, Adlard, J, Agata, S, Aittomaki, K, Andrews, L, Andrulis, IL, Arason, A, Arnold, N, Arun, BK, Asseryanis, E, Auerbach, L, Azzollini, J, Balmana, J, Barile, M, Barkardottir, RB, Barrowdale, D, Benitez, J, Berger, A, Berger, R, Blanco, AM, Blazer, KR, Blok, MJ, Bonadona, V, Bonanni, B, Bradbury, AR, Brewer, C, Buecher, B, Buys, SS, Caldes, T, Caliebe, A, Caligo, MA, Campbell, I, Caputo, SM, Chiquette, J, Chung, WK, Claes, KBM, Collee, M, Cook, J, Davidson, R, de la Hoya, M, De Leeneer, K, de Pauw, A, Delnatte, C, Diez, O, Ding, YC, Ditsch, N, Domchek, S, Dorfling, CM, Velazquez, C, Dworniczak, B, Eason, J, Easton, DF, Eeles, R, Ehrencrona, H, Ejlertsen, B, Engel, C, Engert, S, Evans, DG, Faivre, L, Feliubadalo, L, Ferrer, SF, Foretova, L, Fowler, J, Frost, D, Galvao, HCR, Ganz, PA, Garber, J, Gauthier-Villars, M, Gehrig, A, Gerdes, AM, Gesta, P, Giannini, G, Giraud, S, Glendon, G, Godwin, AK, Greene, MH, Gronwald, J, Gutierrez-Barrera, A, Hahnen, E, Hauke, J, Henderson, A, Hentschel, J, Hogervorst, FBL, Honisch, E, Imyanitov, EN, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, P, Janavicius, R, Jensen, UB, John, EM, Vijai, J, Kaczmarek, K, Karlan, BY, Kast, K, Kim, SW, Konstantopoulou, I, Korach, J, Laitman, Y, Lasa, A, Lasset, C, Lazaro, C, van der Lee, A, Lee, MH, Lester, J, Lesueur, F, Liljegren, A, Lindor, NM, Longy, M, Loud, JT, Lu, KH, Lubinski, J, Machackova, E, Manoukian, S, Mari, V, Martinez-Bouzas, C, Matrai, Z, Mebirouk, N, Meijers-Heijboer, HEJ, Meindl, A, Mensenkamp, AR, Mickys, U, Miller, A, Montagna, M, Moysich, KB, Mulligan, AM, Musinsky, J, Neuhausen, SL, Nevanlinna, H, Ngeow, J, Nguyen, HP, Niederacher, D, Nielsen, HR, Nielsen, FC, Nussbaum, RL, Offit, K, Ofverholm, A, Ong, KR, Osorio, A, Papi, L, Papp, J, pasini, B, Pedersen, IS, Peixoto, A, Peruga, N, Peterlongo, P, Pohl, E, Pradhan, N, Prajzendanc, K, Prieur, F, Pujol, P, Radice, P, Ramus, SJ, Rantala, J, Rashid, MU, Rhiem, K, Robson, M, Rodriguez, GC, Rogers, MT, Rudaitis, V, Schmidt, AY, Schmutzler, RK, Senter, L, Shah, PD, Sharma, P, Side, LE, Simard, J, Singer, CF, Skytte, AB, Slavin, TP, Snape, K, Sobol, H, Southey, M, Steele, L, Steinemann, D, Sukiennicki, G, Sutter, C, Szabo, CI, Tan, YY, Teixeira, MR, Terry, MB, Teule, A, Thomas, A, Thull, DL, Tischkowitz, M, Tognazzo, S, Toland, AE, Topka, S, Trainer, AH, Tung, N, van Asperen, CJ, van der Hout, AH, van der Kolk, LE, van der Luijt, RB, Van Heetvelde, M, Varesco, L, Varon-Mateeva, R, Vega, A, Villarreal-Garza, C, von Wachenfeldt, A, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Weber, BHF, Yannoukakos, D, Yoon, SY, Zanzottera, C, Zidan, J, Zorn, KK, Selkirk, CGH, Hulick, PJ, Chenevix-Trench, G, Spurdle, AB, Antoniou, AC & Nathanson, KL 2018, 'Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations', Human Mutation, vol. 39, no. 5, pp. 593-620. https://doi.org/10.1002/humu.23406

TY - JOUR

T1 - Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

AU - Rebbeck, TR

AU - Friebel, TM

AU - Friedman, E

AU - Hamann, U

AU - Huo, DZ

AU - Kwong, A

AU - Olah, E

AU - Olopade, OI

AU - Solano, AR

AU - Teo, SH

AU - Thomassen, M

AU - Weitzel, JN

AU - Chan, TL

AU - Fergus, J

AU - Goldgar, DE

AU - Kruse, TA

AU - Edenir, I

AU - Park, SK

AU - Torres, D

AU - van Rensburg, EJ

AU - McGuffog, L

AU - Parsons, MT

AU - Leslie, G

AU - Aalfs, CM

AU - Abugattas, J

AU - Adlard, J

AU - Agata, S

AU - Aittomaki, K

AU - Andrews, L

AU - Andrulis, IL

AU - Arason, A

AU - Arnold, N

AU - Arun, BK

AU - Asseryanis, E

AU - Auerbach, L

AU - Azzollini, J

AU - Balmana, J

AU - Barile, M

AU - Barkardottir, RB

AU - Barrowdale, D

AU - Benitez, J

AU - Berger, A

AU - Berger, R

AU - Blanco, AM

AU - Blazer, KR

AU - Blok, MJ

AU - Bonadona, V

AU - Bonanni, B

AU - Bradbury, AR

AU - Brewer, C

AU - Buecher, B

AU - Buys, SS

AU - Caldes, T

AU - Caliebe, A

AU - Caligo, MA

AU - Campbell, I

AU - Caputo, SM

AU - Chiquette, J

AU - Chung, WK

AU - Claes, KBM

AU - Collee, Margriet

AU - Cook, J

AU - Davidson, R

AU - de la Hoya, M

AU - De Leeneer, K

AU - de Pauw, A

AU - Delnatte, C

AU - Diez, O

AU - Ding, YC

AU - Ditsch, N

AU - Domchek, S

AU - Dorfling, CM

AU - Velazquez, C

AU - Dworniczak, B

AU - Eason, J

AU - Easton, DF

AU - Eeles, R

AU - Ehrencrona, H

AU - Ejlertsen, B

AU - Engel, C

AU - Engert, S

AU - Evans, DG

AU - Faivre, L

AU - Feliubadalo, L

AU - Ferrer, SF

AU - Foretova, L

AU - Fowler, J

AU - Frost, D

AU - Galvao, HCR

AU - Ganz, PA

AU - Garber, J

AU - Gauthier-Villars, M

AU - Gehrig, A

AU - Gerdes, AM

AU - Gesta, P

AU - Giannini, G

AU - Giraud, S

AU - Glendon, G

AU - Godwin, AK

AU - Greene, MH

AU - Gronwald, J

AU - Gutierrez-Barrera, A

AU - Hahnen, E

AU - Hauke, J

AU - Henderson, A

AU - Hentschel, J

AU - Hogervorst, FBL

AU - Honisch, E

AU - Imyanitov, EN

AU - Isaacs, C

AU - Izatt, L

AU - Izquierdo, A

AU - Jakubowska, A

AU - James, P

AU - Janavicius, R

AU - Jensen, UB

AU - John, EM

AU - Vijai, J

AU - Kaczmarek, K

AU - Karlan, BY

AU - Kast, K

AU - Kim, SW

AU - Konstantopoulou, I

AU - Korach, J

AU - Laitman, Y

AU - Lasa, A

AU - Lasset, C

AU - Lazaro, C (Conxi)

AU - van der Lee, A

AU - Lee, MH

AU - Lester, J

AU - Lesueur, F

AU - Liljegren, A

AU - Lindor, NM

AU - Longy, M

AU - Loud, JT

AU - Lu, KH

AU - Lubinski, J

AU - Machackova, E

AU - Manoukian, S

AU - Mari, V

AU - Martinez-Bouzas, C

AU - Matrai, Z

AU - Mebirouk, N

AU - Meijers-Heijboer, HEJ

AU - Meindl, A

AU - Mensenkamp, AR

AU - Mickys, U

AU - Miller, A

AU - Montagna, M

AU - Moysich, KB

AU - Mulligan, AM

AU - Musinsky, J

AU - Neuhausen, SL

AU - Nevanlinna, H

AU - Ngeow, J

AU - Nguyen, HP

AU - Niederacher, D

AU - Nielsen, HR

AU - Nielsen, FC

AU - Nussbaum, RL

AU - Offit, K

AU - Ofverholm, A

AU - Ong, KR

AU - Osorio, A

AU - Papi, L

AU - Papp, J

AU - pasini, B

AU - Pedersen, IS

AU - Peixoto, A

AU - Peruga, N

AU - Peterlongo, P

AU - Pohl, E

AU - Pradhan, N

AU - Prajzendanc, K

AU - Prieur, F

AU - Pujol, P

AU - Radice, P

AU - Ramus, SJ

AU - Rantala, J

AU - Rashid, MU

AU - Rhiem, K

AU - Robson, M

AU - Rodriguez, GC

AU - Rogers, MT

AU - Rudaitis, V

AU - Schmidt, AY

AU - Schmutzler, RK

AU - Senter, L

AU - Shah, PD

AU - Sharma, P

AU - Side, LE

AU - Simard, J

AU - Singer, CF

AU - Skytte, AB

AU - Slavin, TP

AU - Snape, K

AU - Sobol, H

AU - Southey, M

AU - Steele, L

AU - Steinemann, D

AU - Sukiennicki, G

AU - Sutter, C

AU - Szabo, CI

AU - Tan, YY

AU - Teixeira, MR

AU - Terry, MB

AU - Teule, A

AU - Thomas, A

AU - Thull, DL

AU - Tischkowitz, M

AU - Tognazzo, S

AU - Toland, AE

AU - Topka, S

AU - Trainer, AH

AU - Tung, N

AU - van Asperen, CJ

AU - van der Hout, AH

AU - van der Kolk, LE

AU - van der Luijt, RB

AU - Van Heetvelde, M

AU - Varesco, L

AU - Varon-Mateeva, R

AU - Vega, A

AU - Villarreal-Garza, C

AU - von Wachenfeldt, A

AU - Walker, L

AU - Wang-Gohrke, S

AU - Wappenschmidt, B

AU - Weber, BHF

AU - Yannoukakos, D

AU - Yoon, SY

AU - Zanzottera, C

AU - Zidan, J

AU - Zorn, KK

AU - Selkirk, CGH

AU - Hulick, PJ

AU - Chenevix-Trench, G

AU - Spurdle, AB

AU - Antoniou, AC

AU - Nathanson, KL

PY - 2018

Y1 - 2018

U2 - 10.1002/humu.23406

DO - 10.1002/humu.23406

M3 - Article

SN - 1059-7794

VL - 39

SP - 593

EP - 620

JO - Human Mutation

JF - Human Mutation

IS - 5

ER -