ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

LB Williams; A Javed; A Sabri; DJ Morgan; CD Huff; JR Grigg; XT Heng; AJ Khng; Iris Hollink; M A Morrison; LA Owen; K Anderson; K Kinard; R Greenlees; D Novacic; HN Sen; WM Zein; GM Rodgers; AT Vitale; NB Haider; AM Hillmer; PC Ng; null Shankaracharya; A Cheng; LD Zheng; MC Gillies; M van Slegtenhorst; P.M. van Hagen; T Missotten; GL Farley; M Polo; J Malatack; J Curtin; F Martin; S Arbuckle; SI Alexander; M Chircop; S Davila; KB Digre; RV Jamieson; MM DeAngelis

doi:10.1038/s41436-019-0476-3

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

LB Williams, A Javed, A Sabri, DJ Morgan, CD Huff, JR Grigg, XT Heng, AJ Khng, Iris Hollink, M A Morrison, LA Owen, K Anderson, K Kinard, R Greenlees, D Novacic, HN Sen, WM Zein, GM Rodgers, AT Vitale, NB HaiderAM Hillmer, PC Ng, Shankaracharya, A Cheng, LD Zheng, MC Gillies, M van Slegtenhorst, P.M. van Hagen, T Missotten, GL Farley, M Polo, J Malatack, J Curtin, F Martin, S Arbuckle, SI Alexander, M Chircop, S Davila, KB Digre, RV Jamieson, MM DeAngelis

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

21 Citations (Scopus)

9 Downloads (Pure)

Original language	Undefined/Unknown
Pages (from-to)	2103-2115
Number of pages	13
Journal	Genetics in Medicine
Volume	21
Issue number	9
DOIs	https://doi.org/10.1038/s41436-019-0476-3
Publication status	Published - 2019

Access to Document

10.1038/s41436-019-0476-3

Repub_121044_O-A.pdfFinal published version, 3.74 MB

http://hdl.handle.net/1765/121044

Cite this

Williams, LB., Javed, A., Sabri, A., Morgan, DJ., Huff, CD., Grigg, JR., Heng, XT., Khng, AJ., Hollink, I., Morrison, M. A., Owen, LA., Anderson, K., Kinard, K., Greenlees, R., Novacic, D., Sen, HN., Zein, WM., Rodgers, GM., Vitale, AT., ... DeAngelis, MM. (2019). ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genetics in Medicine, 21(9), 2103-2115. https://doi.org/10.1038/s41436-019-0476-3

@article{1a39b99a08db4031b28cf8f093f2a616,

title = "ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder",

author = "LB Williams and A Javed and A Sabri and DJ Morgan and CD Huff and JR Grigg and XT Heng and AJ Khng and Iris Hollink and Morrison, {M A} and LA Owen and K Anderson and K Kinard and R Greenlees and D Novacic and HN Sen and WM Zein and GM Rodgers and AT Vitale and NB Haider and AM Hillmer and PC Ng and Shankaracharya and A Cheng and LD Zheng and MC Gillies and {van Slegtenhorst}, M and {van Hagen}, P.M. and T Missotten and GL Farley and M Polo and J Malatack and J Curtin and F Martin and S Arbuckle and SI Alexander and M Chircop and S Davila and KB Digre and RV Jamieson and MM DeAngelis",

year = "2019",

doi = "10.1038/s41436-019-0476-3",

language = "Undefined/Unknown",

volume = "21",

pages = "2103--2115",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Lippincott Williams & Wilkins",

number = "9",

}

Williams, LB, Javed, A, Sabri, A, Morgan, DJ, Huff, CD, Grigg, JR, Heng, XT, Khng, AJ, Hollink, I, Morrison, MA, Owen, LA, Anderson, K, Kinard, K, Greenlees, R, Novacic, D, Sen, HN, Zein, WM, Rodgers, GM, Vitale, AT, Haider, NB, Hillmer, AM, Ng, PC, Shankaracharya, Cheng, A, Zheng, LD, Gillies, MC, van Slegtenhorst, M, van Hagen, PM, Missotten, T, Farley, GL, Polo, M, Malatack, J, Curtin, J, Martin, F, Arbuckle, S, Alexander, SI, Chircop, M, Davila, S, Digre, KB, Jamieson, RV & DeAngelis, MM 2019, 'ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder', Genetics in Medicine, vol. 21, no. 9, pp. 2103-2115. https://doi.org/10.1038/s41436-019-0476-3

TY - JOUR

T1 - ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

AU - Williams, LB

AU - Javed, A

AU - Sabri, A

AU - Morgan, DJ

AU - Huff, CD

AU - Grigg, JR

AU - Heng, XT

AU - Khng, AJ

AU - Hollink, Iris

AU - Morrison, M A

AU - Owen, LA

AU - Anderson, K

AU - Kinard, K

AU - Greenlees, R

AU - Novacic, D

AU - Sen, HN

AU - Zein, WM

AU - Rodgers, GM

AU - Vitale, AT

AU - Haider, NB

AU - Hillmer, AM

AU - Ng, PC

AU - Shankaracharya, null

AU - Cheng, A

AU - Zheng, LD

AU - Gillies, MC

AU - van Slegtenhorst, M

AU - van Hagen, P.M.

AU - Missotten, T

AU - Farley, GL

AU - Polo, M

AU - Malatack, J

AU - Curtin, J

AU - Martin, F

AU - Arbuckle, S

AU - Alexander, SI

AU - Chircop, M

AU - Davila, S

AU - Digre, KB

AU - Jamieson, RV

AU - DeAngelis, MM

PY - 2019

Y1 - 2019

U2 - 10.1038/s41436-019-0476-3

DO - 10.1038/s41436-019-0476-3

M3 - Article

SN - 1098-3600

VL - 21

SP - 2103

EP - 2115

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 9

ER -