The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

C Redin; H van den Brand; RL Collins; T Kammin; E Mitchell; JC Hodge; C Hanscom; V Pillalamarri; CM Seabra; MA Abbott; OA Abdul-Rahman; E Aberg; R Adley; SL Alcaraz-Estrada; FS Alkuraya; Y An; MA Anderson; C Antolik; K Anyane-Yeboa; JF Atkin; T Bartell; JA Bernstein; E Beyer; I Blumenthal; E Bongers; EH Brilstra; CW Brown; HT Bruggenwirth; B Callewaert; C Chiang; K Corning; H Cox; E Cuppen; BB Currall; T Cushing; D David; MA Deardorff; A Dheedene; M D'Hooghe; BBA de Vries; DL Earl; HL Ferguson; H Fisher; DR Fitzpatrick; P Gerrol; D Giachino; JT Glessner; T Gliem; M Grady; BH Graham; C Griffis; KW Gripp; AL Gropman; A Hanson-Kahn; DJ Harris; MA Hayden; R Hill; R Hochstenbach; J D Hoffman; RJ Hopkin; MW Hubshman; AM Innes; M Irons; M Irving; JC Jacobsen; S Janssens; T Jewett; JP Johnson; M C Jongmans; SG Kahler; DA (David) Koolen; J Korzelius; PM Kroisel; Y Lacassie; W Lawless; E Lemyre; K Leppig; AV Levin; HB Li; H Li; EC Liao; C Lim; EJ Lose; D Lucente; MJ Macera; P Manavalan; G Mandrile; CL Marcelis; L Margolin; T Mason; D Masser-Frye; MW McClellan; CJZ Mendoza; B Menten; S Middelkamp; LR Mikami; E Moe; S Mohammed; T Mononen; ME Mortenson; G Moya; AW Nieuwint; Z Ordulu; S Parkash; SP Pauker; S Pereira; D Perrin; K Phelan; REP Aguilar; PJ Poddighe; G Pregno; S Raskin; L Reis; W Rhead; D Rita; I Renkens; F Roelens; J Ruliera; P Rump; SLP Schilit; R Shaheen; R Sparkes; E Spiegel; B Stevens; MR Stone; J Tagoe; JV Thakuria; BW van Bon; J Kamp; I van der Burgt; T van Essen; CM van Ravenswaaij-Arts; MJ van Roosmalen; S Vergult; CML Volker-Touw; DP Warburton; MJ Waterman; S Wiley; A Wilson; MDA Yerena-de Vega; RT Zori; B Levy; HG Brunner; N de Leeuw; WP Kloosterman; EC Thorland; CC Morton; JF Gusella; ME Talkowski

doi:10.1038/ng.3720

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

C Redin, H van den Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, C Hanscom, V Pillalamarri, CM Seabra, MA Abbott, OA Abdul-Rahman, E Aberg, R Adley, SL Alcaraz-Estrada, FS Alkuraya, Y An, MA Anderson, C Antolik, K Anyane-Yeboa, JF AtkinT Bartell, JA Bernstein, E Beyer, I Blumenthal, E Bongers, EH Brilstra, CW Brown, HT Bruggenwirth, B Callewaert, C Chiang, K Corning, H Cox, E Cuppen, BB Currall, T Cushing, D David, MA Deardorff, A Dheedene, M D'Hooghe, BBA de Vries, DL Earl, HL Ferguson, H Fisher, DR Fitzpatrick, P Gerrol, D Giachino, JT Glessner, T Gliem, M Grady, BH Graham, C Griffis, KW Gripp, AL Gropman, A Hanson-Kahn, DJ Harris, MA Hayden, R Hill, R Hochstenbach, J D Hoffman, RJ Hopkin, MW Hubshman, AM Innes, M Irons, M Irving, JC Jacobsen, S Janssens, T Jewett, JP Johnson, M C Jongmans, SG Kahler, DA (David) Koolen, J Korzelius, PM Kroisel, Y Lacassie, W Lawless, E Lemyre, K Leppig, AV Levin, HB Li, H Li, EC Liao, C Lim, EJ Lose, D Lucente, MJ Macera, P Manavalan, G Mandrile, CL Marcelis, L Margolin, T Mason, D Masser-Frye, MW McClellan, CJZ Mendoza, B Menten, S Middelkamp, LR Mikami, E Moe, S Mohammed, T Mononen, ME Mortenson, G Moya, AW Nieuwint, Z Ordulu, S Parkash, SP Pauker, S Pereira, D Perrin, K Phelan, REP Aguilar, PJ Poddighe, G Pregno, S Raskin, L Reis, W Rhead, D Rita, I Renkens, F Roelens, J Ruliera, P Rump, SLP Schilit, R Shaheen, R Sparkes, E Spiegel, B Stevens, MR Stone, J Tagoe, JV Thakuria, BW van Bon, J Kamp, I van der Burgt, T van Essen, CM van Ravenswaaij-Arts, MJ van Roosmalen, S Vergult, CML Volker-Touw, DP Warburton, MJ Waterman, S Wiley, A Wilson, MDA Yerena-de Vega, RT Zori, B Levy, HG Brunner, N de Leeuw, WP Kloosterman, EC Thorland, CC Morton, JF Gusella, ME Talkowski

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213 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	36-45
Number of pages	10
Journal	Nature Genetics
Volume	49
Issue number	1
DOIs	https://doi.org/10.1038/ng.3720
Publication status	Published - 2017

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10.1038/ng.3720

http://hdl.handle.net/1765/108340

Cite this

Redin, C., van den Brand, H., Collins, RL., Kammin, T., Mitchell, E., Hodge, JC., Hanscom, C., Pillalamarri, V., Seabra, CM., Abbott, MA., Abdul-Rahman, OA., Aberg, E., Adley, R., Alcaraz-Estrada, SL., Alkuraya, FS., An, Y., Anderson, MA., Antolik, C., Anyane-Yeboa, K., ... Talkowski, ME. (2017). The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature Genetics, 49(1), 36-45. https://doi.org/10.1038/ng.3720

@article{0fcc4f6c08f040fb86990b62afce544c,

title = "The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies",

author = "C Redin and {van den Brand}, H and RL Collins and T Kammin and E Mitchell and JC Hodge and C Hanscom and V Pillalamarri and CM Seabra and MA Abbott and OA Abdul-Rahman and E Aberg and R Adley and SL Alcaraz-Estrada and FS Alkuraya and Y An and MA Anderson and C Antolik and K Anyane-Yeboa and JF Atkin and T Bartell and JA Bernstein and E Beyer and I Blumenthal and E Bongers and EH Brilstra and CW Brown and HT Bruggenwirth and B Callewaert and C Chiang and K Corning and H Cox and E Cuppen and BB Currall and T Cushing and D David and MA Deardorff and A Dheedene and M D'Hooghe and {de Vries}, BBA and DL Earl and HL Ferguson and H Fisher and DR Fitzpatrick and P Gerrol and D Giachino and JT Glessner and T Gliem and M Grady and BH Graham and C Griffis and KW Gripp and AL Gropman and A Hanson-Kahn and DJ Harris and MA Hayden and R Hill and R Hochstenbach and Hoffman, {J D} and RJ Hopkin and MW Hubshman and AM Innes and M Irons and M Irving and JC Jacobsen and S Janssens and T Jewett and JP Johnson and Jongmans, {M C} and SG Kahler and Koolen, {DA (David)} and J Korzelius and PM Kroisel and Y Lacassie and W Lawless and E Lemyre and K Leppig and AV Levin and HB Li and H Li and EC Liao and C Lim and EJ Lose and D Lucente and MJ Macera and P Manavalan and G Mandrile and CL Marcelis and L Margolin and T Mason and D Masser-Frye and MW McClellan and CJZ Mendoza and B Menten and S Middelkamp and LR Mikami and E Moe and S Mohammed and T Mononen and ME Mortenson and G Moya and AW Nieuwint and Z Ordulu and S Parkash and SP Pauker and S Pereira and D Perrin and K Phelan and REP Aguilar and PJ Poddighe and G Pregno and S Raskin and L Reis and W Rhead and D Rita and I Renkens and F Roelens and J Ruliera and P Rump and SLP Schilit and R Shaheen and R Sparkes and E Spiegel and B Stevens and MR Stone and J Tagoe and JV Thakuria and {van Bon}, BW and J Kamp and {van der Burgt}, I and {van Essen}, T and {van Ravenswaaij-Arts}, CM and {van Roosmalen}, MJ and S Vergult and CML Volker-Touw and DP Warburton and MJ Waterman and S Wiley and A Wilson and {Yerena-de Vega}, MDA and RT Zori and B Levy and HG Brunner and {de Leeuw}, N and WP Kloosterman and EC Thorland and CC Morton and JF Gusella and ME Talkowski",

year = "2017",

doi = "10.1038/ng.3720",

language = "Undefined/Unknown",

volume = "49",

pages = "36--45",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "1",

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Redin, C, van den Brand, H, Collins, RL, Kammin, T, Mitchell, E, Hodge, JC, Hanscom, C, Pillalamarri, V, Seabra, CM, Abbott, MA, Abdul-Rahman, OA, Aberg, E, Adley, R, Alcaraz-Estrada, SL, Alkuraya, FS, An, Y, Anderson, MA, Antolik, C, Anyane-Yeboa, K, Atkin, JF, Bartell, T, Bernstein, JA, Beyer, E, Blumenthal, I, Bongers, E, Brilstra, EH, Brown, CW, Bruggenwirth, HT, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, BB, Cushing, T, David, D, Deardorff, MA, Dheedene, A, D'Hooghe, M, de Vries, BBA, Earl, DL, Ferguson, HL, Fisher, H, Fitzpatrick, DR, Gerrol, P, Giachino, D, Glessner, JT, Gliem, T, Grady, M, Graham, BH, Griffis, C, Gripp, KW, Gropman, AL, Hanson-Kahn, A, Harris, DJ, Hayden, MA, Hill, R, Hochstenbach, R, Hoffman, JD, Hopkin, RJ, Hubshman, MW, Innes, AM, Irons, M, Irving, M, Jacobsen, JC, Janssens, S, Jewett, T, Johnson, JP, Jongmans, MC, Kahler, SG, Koolen, DA, Korzelius, J, Kroisel, PM, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, AV, Li, HB, Li, H, Liao, EC, Lim, C, Lose, EJ, Lucente, D, Macera, MJ, Manavalan, P, Mandrile, G, Marcelis, CL, Margolin, L, Mason, T, Masser-Frye, D, McClellan, MW, Mendoza, CJZ, Menten, B, Middelkamp, S, Mikami, LR, Moe, E, Mohammed, S, Mononen, T, Mortenson, ME, Moya, G, Nieuwint, AW, Ordulu, Z, Parkash, S, Pauker, SP, Pereira, S, Perrin, D, Phelan, K, Aguilar, REP, Poddighe, PJ, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, SLP, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, MR, Tagoe, J, Thakuria, JV, van Bon, BW, Kamp, J, van der Burgt, I, van Essen, T, van Ravenswaaij-Arts, CM, van Roosmalen, MJ, Vergult, S, Volker-Touw, CML, Warburton, DP, Waterman, MJ, Wiley, S, Wilson, A, Yerena-de Vega, MDA, Zori, RT, Levy, B, Brunner, HG, de Leeuw, N, Kloosterman, WP, Thorland, EC, Morton, CC, Gusella, JF & Talkowski, ME 2017, 'The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies', Nature Genetics, vol. 49, no. 1, pp. 36-45. https://doi.org/10.1038/ng.3720

TY - JOUR

T1 - The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

AU - Redin, C

AU - van den Brand, H

AU - Collins, RL

AU - Kammin, T

AU - Mitchell, E

AU - Hodge, JC

AU - Hanscom, C

AU - Pillalamarri, V

AU - Seabra, CM

AU - Abbott, MA

AU - Abdul-Rahman, OA

AU - Aberg, E

AU - Adley, R

AU - Alcaraz-Estrada, SL

AU - Alkuraya, FS

AU - An, Y

AU - Anderson, MA

AU - Antolik, C

AU - Anyane-Yeboa, K

AU - Atkin, JF

AU - Bartell, T

AU - Bernstein, JA

AU - Beyer, E

AU - Blumenthal, I

AU - Bongers, E

AU - Brilstra, EH

AU - Brown, CW

AU - Bruggenwirth, HT

AU - Callewaert, B

AU - Chiang, C

AU - Corning, K

AU - Cox, H

AU - Cuppen, E

AU - Currall, BB

AU - Cushing, T

AU - David, D

AU - Deardorff, MA

AU - Dheedene, A

AU - D'Hooghe, M

AU - de Vries, BBA

AU - Earl, DL

AU - Ferguson, HL

AU - Fisher, H

AU - Fitzpatrick, DR

AU - Gerrol, P

AU - Giachino, D

AU - Glessner, JT

AU - Gliem, T

AU - Grady, M

AU - Graham, BH

AU - Griffis, C

AU - Gripp, KW

AU - Gropman, AL

AU - Hanson-Kahn, A

AU - Harris, DJ

AU - Hayden, MA

AU - Hill, R

AU - Hochstenbach, R

AU - Hoffman, J D

AU - Hopkin, RJ

AU - Hubshman, MW

AU - Innes, AM

AU - Irons, M

AU - Irving, M

AU - Jacobsen, JC

AU - Janssens, S

AU - Jewett, T

AU - Johnson, JP

AU - Jongmans, M C

AU - Kahler, SG

AU - Koolen, DA (David)

AU - Korzelius, J

AU - Kroisel, PM

AU - Lacassie, Y

AU - Lawless, W

AU - Lemyre, E

AU - Leppig, K

AU - Levin, AV

AU - Li, HB

AU - Li, H

AU - Liao, EC

AU - Lim, C

AU - Lose, EJ

AU - Lucente, D

AU - Macera, MJ

AU - Manavalan, P

AU - Mandrile, G

AU - Marcelis, CL

AU - Margolin, L

AU - Mason, T

AU - Masser-Frye, D

AU - McClellan, MW

AU - Mendoza, CJZ

AU - Menten, B

AU - Middelkamp, S

AU - Mikami, LR

AU - Moe, E

AU - Mohammed, S

AU - Mononen, T

AU - Mortenson, ME

AU - Moya, G

AU - Nieuwint, AW

AU - Ordulu, Z

AU - Parkash, S

AU - Pauker, SP

AU - Pereira, S

AU - Perrin, D

AU - Phelan, K

AU - Aguilar, REP

AU - Poddighe, PJ

AU - Pregno, G

AU - Raskin, S

AU - Reis, L

AU - Rhead, W

AU - Rita, D

AU - Renkens, I

AU - Roelens, F

AU - Ruliera, J

AU - Rump, P

AU - Schilit, SLP

AU - Shaheen, R

AU - Sparkes, R

AU - Spiegel, E

AU - Stevens, B

AU - Stone, MR

AU - Tagoe, J

AU - Thakuria, JV

AU - van Bon, BW

AU - Kamp, J

AU - van der Burgt, I

AU - van Essen, T

AU - van Ravenswaaij-Arts, CM

AU - van Roosmalen, MJ

AU - Vergult, S

AU - Volker-Touw, CML

AU - Warburton, DP

AU - Waterman, MJ

AU - Wiley, S

AU - Wilson, A

AU - Yerena-de Vega, MDA

AU - Zori, RT

AU - Levy, B

AU - Brunner, HG

AU - de Leeuw, N

AU - Kloosterman, WP

AU - Thorland, EC

AU - Morton, CC

AU - Gusella, JF

AU - Talkowski, ME

PY - 2017

Y1 - 2017

U2 - 10.1038/ng.3720

DO - 10.1038/ng.3720

M3 - Article

C2 - 27841880

SN - 1061-4036

VL - 49

SP - 36

EP - 45

JO - Nature Genetics

JF - Nature Genetics

IS - 1

ER -