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Page 1
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA. Hardcastle A, et al. Among authors: zhao x. Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29. Am J Med Genet A. 2022. PMID: 35904974 Free PMC article.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Sy MR, et al. Among authors: zhao x. Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22. Am J Med Genet A. 2022. PMID: 36135330 Free PMC article.
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.
Huth EA, Zhao X, Owen N, Luna PN, Vogel I, Dorf ILH, Joss S, Clayton-Smith J, Parker MJ, Louw JJ, Gewillig M, Breckpot J, Kraus A, Sasaki E, Kini U, Burgess T, Tan TY, Armstrong R, Neas K, Ferrero GB, Brusco A, Kerstjens-Frederikse WS, Rankin J, Helvaty LR, Landis BJ, Geddes GC, McBride KL, Ware SM, Shaw CA, Lalani SR, Rosenfeld JA, Scott DA. Huth EA, et al. Among authors: zhao x. Eur J Hum Genet. 2023 Dec;31(12):1430-1439. doi: 10.1038/s41431-023-01451-4. Epub 2023 Sep 7. Eur J Hum Genet. 2023. PMID: 37673932
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
Sewani S, Azamian MS, Mendelsohn BA, Mau-Them FT, Réda M, Nambot S, Isidor B, van der Smagt JJ, Shen JJ, Shillington A, White L, Elloumi HZ, Baker PR 2nd, Svihovec S, Brown K, Koopman-Keemink Y, Hoffer MJV, Lakeman IMM, Brischoux-Boucher E, Kinali M, Zhao X, Lalani SR, Scott DA. Sewani S, et al. Among authors: zhao x. Am J Med Genet A. 2024 Mar;194(3):e63445. doi: 10.1002/ajmg.a.63445. Epub 2023 Oct 23. Am J Med Genet A. 2024. PMID: 37872713
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.
Früh S, Boudkkazi S, Koppensteiner P, Sereikaite V, Chen LY, Fernandez-Fernandez D, Rem PD, Ulrich D, Schwenk J, Chen Z, Le Monnier E, Fritzius T, Innocenti SM, Besseyrias V, Trovò L, Stawarski M, Argilli E, Sherr EH, van Bon B, Kamsteeg EJ, Iascone M, Pilotta A, Cutrì MR, Azamian MS, Hernández-García A, Lalani SR, Rosenfeld JA, Zhao X, Vogel TP, Ona H, Scott DA, Scheiffele P, Strømgaard K, Tafti M, Gassmann M, Fakler B, Shigemoto R, Bettler B. Früh S, et al. Among authors: zhao x. Sci Adv. 2024 Jul 12;10(28):eadk5462. doi: 10.1126/sciadv.adk5462. Epub 2024 Jul 10. Sci Adv. 2024. PMID: 38985877 Free PMC article.
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants.
Saeidian AH, March ME, Youssefian L, Watson DJ, Bhandari E, Wang X, Zhao X, Owen NM, Strong A, Harr MH; CAG Secondary Finding Consortium; Bhoj E, Zackai E, Vahidnezhad H, Gudjonsson JE, Cederbaum SD, Deignan JL, Glessner J, Grody WW, Hakonarson H. Saeidian AH, et al. Among authors: zhao x. Genet Med. 2024 Nov;26(11):101225. doi: 10.1016/j.gim.2024.101225. Epub 2024 Jul 31. Genet Med. 2024. PMID: 39096151 Free article.
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