PIGG variant pathogenicity assessment reveals novel features within nineteen families

C Tremblay-Laganiere; R Maroofian; TTM Nguyen; EG Karimiani; S Kirmani; F Akbar; S Ibrahim; B Afroze; M Doosti; F Ashrafzadeh; M Babaei; S Efthymiou; T Sultan; RL Ladda; HM McLaughlin; R Truty; S Mahida; JS Cohen; K Baranano; FY Ismail; MS Patel; A Lehman; AC Edmondson; A Nagy; MA Walker; S Mercimek-Andrews; Y Maki; R Sachdev; R Macintosh; EE Palmer; GMS Mancini; TS Barakat; R Steinfeld; CT Rusch; GM Stettner; M Wagner; Saskia Wortmann; U Kini; AF Brady; KL Stals; N Ismayilova; S Ellard; D Bernardo; K Nugent; SD McLean; SE Antonarakis; H Houlden; T Kinoshita; PM Campeau; Y Murakami

PIGG variant pathogenicity assessment reveals novel features within nineteen families

C Tremblay-Laganiere, R Maroofian, TTM Nguyen, EG Karimiani, S Kirmani, F Akbar, S Ibrahim, B Afroze, M Doosti, F Ashrafzadeh, M Babaei, S Efthymiou, T Sultan, RL Ladda, HM McLaughlin, R Truty, S Mahida, JS Cohen, K Baranano, FY IsmailMS Patel, A Lehman, AC Edmondson, A Nagy, MA Walker, S Mercimek-Andrews, Y Maki, R Sachdev, R Macintosh, EE Palmer, GMS Mancini, TS Barakat, R Steinfeld, CT Rusch, GM Stettner, M Wagner, Saskia Wortmann, U Kini, AF Brady, KL Stals, N Ismayilova, S Ellard, D Bernardo, K Nugent, SD McLean, SE Antonarakis, H Houlden, T Kinoshita, PM Campeau, Y Murakami

Department of Pediatrics

Research output: Contribution to journal › published Abstract (Journal) › peer-review

Original language	English
Pages (from-to)	274-274
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	30
Issue number	SUPPL 1
Publication status	Published - 2022

Cite this

Tremblay-Laganiere, C., Maroofian, R., Nguyen, TTM., Karimiani, EG., Kirmani, S., Akbar, F., Ibrahim, S., Afroze, B., Doosti, M., Ashrafzadeh, F., Babaei, M., Efthymiou, S., Sultan, T., Ladda, RL., McLaughlin, HM., Truty, R., Mahida, S., Cohen, JS., Baranano, K., ... Murakami, Y. (2022). PIGG variant pathogenicity assessment reveals novel features within nineteen families. EUROPEAN JOURNAL OF HUMAN GENETICS , 30(SUPPL 1), 274-274.

Tremblay-Laganiere, C ; Maroofian, R ; Nguyen, TTM et al. / PIGG variant pathogenicity assessment reveals novel features within nineteen families. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2022 ; Vol. 30, No. SUPPL 1. pp. 274-274.

@article{a8958ed1539c4e1f8542b1d286460991,

title = "PIGG variant pathogenicity assessment reveals novel features within nineteen families",

author = "C Tremblay-Laganiere and R Maroofian and TTM Nguyen and EG Karimiani and S Kirmani and F Akbar and S Ibrahim and B Afroze and M Doosti and F Ashrafzadeh and M Babaei and S Efthymiou and T Sultan and RL Ladda and HM McLaughlin and R Truty and S Mahida and JS Cohen and K Baranano and FY Ismail and MS Patel and A Lehman and AC Edmondson and A Nagy and MA Walker and S Mercimek-Andrews and Y Maki and R Sachdev and R Macintosh and EE Palmer and GMS Mancini and TS Barakat and R Steinfeld and CT Rusch and GM Stettner and M Wagner and Saskia Wortmann and U Kini and AF Brady and KL Stals and N Ismayilova and S Ellard and D Bernardo and K Nugent and SD McLean and SE Antonarakis and H Houlden and T Kinoshita and PM Campeau and Y Murakami",

year = "2022",

language = "English",

volume = "30",

pages = "274--274",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

issn = "1018-4813",

publisher = "Springer Nature",

number = "SUPPL 1",

}

Tremblay-Laganiere, C, Maroofian, R, Nguyen, TTM, Karimiani, EG, Kirmani, S, Akbar, F, Ibrahim, S, Afroze, B, Doosti, M, Ashrafzadeh, F, Babaei, M, Efthymiou, S, Sultan, T, Ladda, RL, McLaughlin, HM, Truty, R, Mahida, S, Cohen, JS, Baranano, K, Ismail, FY, Patel, MS, Lehman, A, Edmondson, AC, Nagy, A, Walker, MA, Mercimek-Andrews, S, Maki, Y, Sachdev, R, Macintosh, R, Palmer, EE, Mancini, GMS, Barakat, TS, Steinfeld, R, Rusch, CT, Stettner, GM, Wagner, M, Wortmann, S, Kini, U, Brady, AF, Stals, KL, Ismayilova, N, Ellard, S, Bernardo, D, Nugent, K, McLean, SD, Antonarakis, SE, Houlden, H, Kinoshita, T, Campeau, PM & Murakami, Y 2022, 'PIGG variant pathogenicity assessment reveals novel features within nineteen families', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 30, no. SUPPL 1, pp. 274-274.

PIGG variant pathogenicity assessment reveals novel features within nineteen families. / Tremblay-Laganiere, C; Maroofian, R; Nguyen, TTM et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 30, No. SUPPL 1, 2022, p. 274-274.

Research output: Contribution to journal › published Abstract (Journal) › peer-review

TY - JOUR

T1 - PIGG variant pathogenicity assessment reveals novel features within nineteen families

AU - Tremblay-Laganiere, C

AU - Maroofian, R

AU - Nguyen, TTM

AU - Karimiani, EG

AU - Kirmani, S

AU - Akbar, F

AU - Ibrahim, S

AU - Afroze, B

AU - Doosti, M

AU - Ashrafzadeh, F

AU - Babaei, M

AU - Efthymiou, S

AU - Sultan, T

AU - Ladda, RL

AU - McLaughlin, HM

AU - Truty, R

AU - Mahida, S

AU - Cohen, JS

AU - Baranano, K

AU - Ismail, FY

AU - Patel, MS

AU - Lehman, A

AU - Edmondson, AC

AU - Nagy, A

AU - Walker, MA

AU - Mercimek-Andrews, S

AU - Maki, Y

AU - Sachdev, R

AU - Macintosh, R

AU - Palmer, EE

AU - Mancini, GMS

AU - Barakat, TS

AU - Steinfeld, R

AU - Rusch, CT

AU - Stettner, GM

AU - Wagner, M

AU - Wortmann, Saskia

AU - Kini, U

AU - Brady, AF

AU - Stals, KL

AU - Ismayilova, N

AU - Ellard, S

AU - Bernardo, D

AU - Nugent, K

AU - McLean, SD

AU - Antonarakis, SE

AU - Houlden, H

AU - Kinoshita, T

AU - Campeau, PM

AU - Murakami, Y

PY - 2022

Y1 - 2022

M3 - published Abstract (Journal)

SN - 1018-4813

VL - 30

SP - 274

EP - 274

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

IS - SUPPL 1

ER -

Tremblay-Laganiere C, Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F et al. PIGG variant pathogenicity assessment reveals novel features within nineteen families. EUROPEAN JOURNAL OF HUMAN GENETICS . 2022;30(SUPPL 1):274-274.