Fiona McKenzie

2024

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death (Nature Medicine, (2023), 29, 1, (180-189), 10.1038/s41591-022-02142-1)

Broad Institute Center for Mendelian Genomics & Genomic Autopsy Study Research Network, Jan 2024, In: Nature Medicine. 30, 1, p. 302 1 p.

Research output: Contribution to journal › Comment/debate › peer-review

Consensus Guidelines for the Use of Vosoritide in Children with Achondroplasia in Australia

Tofts, L., Ireland, P., Tate, T., Raj, S., Carroll, T., Munns, C. F., Knipe, S., Langdon, K., McGregor, L., McKenzie, F., Zankl, A. & Savarirayan, R., Jul 2024, In: Children. 11, 7, 789.

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

Open Access

2 Citations (Scopus)

Role of CAMK2D in neurodevelopment and associated conditions

Rigter, P. M. F., de Konink, C., Dunn, M. J., Proietti Onori, M., Humberson, J. B., Thomas, M., Barnes, C., Prada, C. E., Weaver, K. N., Ryan, T. D., Caluseriu, O., Conway, J., Calamaro, E., Fong, C. T., Wuyts, W., Meuwissen, M., Hordijk, E., Jonkers, C. N., Anderson, L. & Yuseinova, B. & 22 others, Polonia, S., Beysen, D., Stark, Z., Savva, E., Poulton, C., McKenzie, F., Bhoj, E., Bupp, C. P., Bézieau, S., Mercier, S., Blevins, A., Wentzensen, I. M., Xia, F., Rosenfeld, J. A., Hsieh, T. C., Krawitz, P. M., Elbracht, M., Veenma, D. C. M., Schulman, H., Stratton, M. M., Küry, S. & van Woerden, G. M., 24 Jan 2024, In: American Journal of Human Genetics. 111, 2, p. 364-382 19 p.

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

4 Citations (Scopus)

2023

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., Stevenson, R. E., Ha, T., Cavalcanti, D. P., Miyahara, H., Skinner, S. A., Aguirre, M. A., Akçören, Z., Utine, G. E., Chiu, T., Shimizu, K., Hammarsjö, A., Boduroglu, K., Moore, H. W. & Louie, R. J. & 12 others, Arts, P., Merrihew, A. N., Babic, M., Jackson, M. R., Papadogiannakis, N., Lindstrand, A., Nordgren, A., Barnett, C. P., Scott, H. S., Chagin, A. S., Nishimura, G. & Grigelioniene, G., May 2023, In: Journal of Bone and Mineral Research. 38, 5, p. 692-706 15 p.

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

Open Access

6 Citations (Scopus)

Australian guidelines for the management of children with achondroplasia

Tofts, L. J., Armstrong, J. A., Broley, S., Carroll, T., Ireland, P. J., Koo, M., Langdon, K., McGregor, L., McKenzie, F., Mehta, D., Savarirayan, R., Tate, T., Wesley, A., Zankl, A., Jenner, M., Eyles, M. & Pacey, V., 1 Feb 2023, (E-pub ahead of print) In: Journal of Paediatrics and Child Health. 59, 2, p. 229-241 13 p.

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

Open Access

6 Citations (Web of Science)

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Brd Inst Ctr Mendelian Genomics, Genomic Autopsy Study Res Network, Brd Inst Ctr Mendelian Genomics & Genomic Autopsy Study Res Network, Jan 2023, In: Nature Medicine. 29, 1, p. 180-189 10 p.

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

Open Access

27 Citations (Web of Science)

2022

Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders

Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., Miyahara, H., Eriksson, G., Ha, T., Utine, G. E., Chiu, T., Shimizu, K., Hammarsjo, A., Boduroglu, K., Arts, P., Babic, M., Jackson, M. R., Papadogiannakis, N., Lindstrand, A. & Nordgren, A. & 5 others, Barnett, C. P., Scott, H. S., Chagin, A. S., Nishimura, G. & Grigelioniene, G., Apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 41-42 2 p.

Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review

Studying Disease-Associated UBE3A Missense Variants Using Enhanced Sampling Molecular Simulations

Agostino, M., McKenzie, F., Buck, C., Woodward, K. J., Atkinson, V. J., Azmanov, D. N. & Heng, J.I.-T., 26 Jul 2022, In: ACS Omega. 7, 29, p. 25039-25045 7 p.

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

Open Access

2021

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B. & Sylvain, M. & 99 others, Sébire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., de Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özkınay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M. S., Vanderver, A., Martos-Moreno, G., Polychronakos, C., Wolf, N. I. & Bernard, G., 1 Feb 2021, In: The Journal of clinical endocrinology and metabolism. 106, 2, p. e660-e674

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

Open Access

32 Citations (Scopus)

Pseudoxanthoma elasticum presenting in teenage sisters: Case report and review of multisystem associations

Hillan, A., Convery-Chan, L., Beer, T., McKenzie, F. & Ricciardo, B., 2021, In: European Journal of Pediatric Dermatology. 31, 3, p. 155-160 6 p.

Research output: Contribution to journal › Review article › peer-review

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

McKenzie, F., Mina, K., Callewaert, B., Beyens, A., Dickinson, J. E., Jevon, G., Papadimitriou, J., Diness, B. R., Steensberg, J. N., Ek, J. & Baynam, G., Aug 2021, In: Clinical Genetics. 100, 2, p. 168-175 8 p.

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

4 Citations (Scopus)

2020

A clinical scoring system for congenital contractural arachnodactyly

Meerschaut, I., De Coninck, S., Steyaert, W., Barnicoat, A., Bayat, A., Benedicenti, F., Berland, S., Blair, E. M., Breckpot, J., de Burca, A., Destrée, A., García-Miñaúr, S., Green, A. J., Hanna, B. C., Keymolen, K., Koopmans, M., Lederer, D., Lees, M., Longman, C. & Lynch, S. A. & 23 others, Male, A. M., McKenzie, F., Migeotte, I., Mihci, E., Nur, B., Petit, F., Piard, J., Plasschaert, F. S., Rauch, A., Ribaï, P., Pacheco, I. S., Stanzial, F., Stolte-Dijkstra, I., Valenzuela, I., Varghese, V., Vasudevan, P. C., Wakeling, E., Wallgren-Pettersson, C., Coucke, P., De Paepe, A., De Wolf, D., Symoens, S. & Callewaert, B., 1 Jan 2020, In: Genetics in Medicine. 22, 1, p. 124-131 8 p.

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

23 Citations (Scopus)

A flexible computational pipeline for research analyses of unsolved clinical exome cases

Lassmann, T., Francis, R. W., Weeks, A., Tang, D., Jamieson, S. E., Broley, S., Dawkins, H. J. S., Dreyer, L., Goldblatt, J., Groza, T., Kamien, B., Kiraly-Borri, C., McKenzie, F., Murphy, L., Pachter, N., Pathak, G., Poulton, C., Samanek, A., Skoss, R. & Slee, J. & 4 others, Townshend, S., Ward, M., Baynam, G. S. & Blackwell, J. M., Dec 2020, In: npj Genomic Medicine. 5, 1, 54.

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

Open Access

4 Citations (Scopus)

EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

Carroll, R., Shaw, M., Arvio, M., Gardner, A., Kumar, R., Hodgson, B., Heron, S., McKenzie, F., Järvelä, I. & Gecz, J., Oct 2020, In: European Journal of Medical Genetics. 63, 10, 104010.

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

4 Citations (Scopus)

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features

Palmer, E. E., Carroll, R., Shaw, M., Kumar, R., Minoche, A. E., Leffler, M., Murray, L., Macintosh, R., Wright, D., Troedson, C., McKenzie, F., Townshend, S., Ward, M., Nawaz, U., Ravine, A., Runke, C. K., Thorland, E. C., Hummel, M., Foulds, N. & Pichon, O. & 11 others, Isidor, B., Le Caignec, C., Demeer, B., Andrieux, J., Albarazi, S. H., Bye, A., Sachdev, R., Kirk, E. P., Cowley, M. J., Field, M. & Gecz, J., 3 Dec 2020, In: American Journal of Human Genetics. 107, 6, p. 1157-1169 13 p.

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

Open Access

7 Citations (Web of Science)

2019

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

Woodward, K. J., Stampalia, J., Vanyai, H., Rijhumal, H., Potts, K., Taylor, F., Peverall, J., Grumball, T., Sivamoorthy, S., Alinejad-Rokny, H., Wray, J., Whitehouse, A., Nagarajan, L., Scurlock, J., Afchani, S., Edwards, M., Murch, A., Beilby, J., Baynam, G. & Kiraly-Borri, C. & 2 others, McKenzie, F. & Heng, J. I. T., Feb 2019, In: Molecular genetics & genomic medicine. 7, 2, 17 p., e00507.

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

Open Access

26 Citations (Scopus)

Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census

Australian Genomics Workforce Educ, Apr 2019, In: Journal of Genetic Counseling. 28, 2, p. 367-377 11 p.

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

36 Citations (Scopus)

2018

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., van Esch, H., Bosch, D. G. M., Andersen, U. A., Baker, C., Bauters, M., Bernier, R. A., van Bon, B. W., Claahsen-van der Grinten, H. L., Gecz, J., Gilissen, C., Grillo, L., Hackett, A., Kleefstra, T., Koolen, D., Kvarnung, M. & Larsen, M. J. & 21 others, Marcelis, C., McKenzie, F., Monin, M. L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., van de Vorst, M., Vries, P. D., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & de Vries, B. B. A., Jan 2018, In: European Journal of Human Genetics. 26, 1, p. 54-63 10 p.

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

Open Access

38 Citations (Scopus)

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

Meester, J. A. N., Sukalo, M., Schröder, K. C., Schanze, D., Baynam, G., Borck, G., Bramswig, N. C., Duman, D., Gilbert-Dussardier, B., Holder-Espinasse, M., Itin, P., Johnson, D. S., Joss, S., Koillinen, H., McKenzie, F., Morton, J., Nelle, H., Reardon, W., Roll, C. & Salih, M. A. & 16 others, Savarirayan, R., Scurr, I., Splitt, M., Thompson, E., Titheradge, H., Travers, C. P., Van Maldergem, L., Whiteford, M., Wieczorek, D., Vandeweyer, G., Trembath, R., Van Laer, L., Loeys, B. L., Zenker, M., Southgate, L. & Wuyts, W., 1 Sept 2018, In: Human Mutation. 39, 9, p. 1246-1261 16 p.

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

Open Access

39 Citations (Web of Science)

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

C4RCD Research Group & DDD study, 1 Nov 2018, In: American Journal of Medical Genetics, Part A. 176, 11, p. 2259-2275 17 p.

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

49 Citations (Scopus)

2017

Improved diagnosis and care for rare diseases through implementation of precision public health framework

Baynam, G., Bowman, F., Lister, K., Walker, C. E., Pachter, N., Goldblatt, J., Boycott, K. M., Gahl, W. A., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S. & Schofield, L. & 39 others, Verhoef, H., Groza, T., Zankl, A., Robinson, P. N., Haendel, M., Brudno, M., Mattick, J. S., Dinger, M. E., Roscioli, T., Cowley, M. J., Olry, A., Hanauer, M., Alkuraya, F. S., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N. G., Julkowska, D., Le Cam, Y., Terry, S. F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S. C., Austin, C. P., Draghia-Akli, R., Weeramanthri, T. S., Molster, C. & Dawkins, H. J. S., 2017, Rare Diseases Epidemiology: Update and Overview. Posada de la Paz, M., Taruscio, D. & Groft, S. C. (eds.). 2nd ed. Switzerland: Springer, p. 55-94 40 p. (Advances in Experimental Medicine and Biology; vol. 1031).

Research output: Chapter in Book/Conference paper › Chapter › peer-review

24 Citations (Scopus)

Initiating an undiagnosed diseases program in the Western Australian public health system

Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, P., Palmer, R., Kung, S., Walker, C. E., Molster, C., Lewis, B., Mina, K., Beilby, J. & Pathak, G. & 23 others, Poulton, C., Groza, T., Zankl, A., Roscioli, T., Dinger, M. E., Mattick, J. S., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P. W., Daly, F., Weeramanthri, T., Dawkins, H. & Goldblatt, J., 3 May 2017, In: Orphanet Journal of Rare Diseases. 12, 1, 83.

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

Open Access

31 Citations (Scopus)

Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene

Abraham, M. B., Li, D., Tang, D., O'Connell, S. M., McKenzie, F., Lim, E. M., Hakonarson, H., Levine, M. A. & Choong, C. S., 25 Jan 2017, In: International Journal of Pediatric Endocrinology. 2017, 9 p., 1.

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

Open Access

25 Citations (Web of Science)

2016

Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort

Eggers, S., Sadedin, S., Van Den Bergen, J. A., Robevska, G., Ohnesorg, T., Hewitt, J., Lambeth, L., Bouty, A., Knarston, I. M., Tan, T. Y., Cameron, F., Werther, G., Hutson, J., O'Connell, M., Grover, S. R., Heloury, Y., Zacharin, M., Bergman, P., Kimber, C. & Brown, J. & 47 others, Webb, N., Hunter, M. F., Srinivasan, S., Titmuss, A., Verge, C. F., Mowat, D., Smith, G., Smith, J., Ewans, L., Shalhoub, C., Crock, P., Cowell, C., Leong, G. M., Ono, M., Lafferty, A. R., Huynh, T., Visser, U., Choong, C. S., McKenzie, F., Pachter, N., Thompson, E. M., Couper, J., Baxendale, A., Gecz, J., Wheeler, B. J., Jefferies, C., Mackenzie, K., Hofman, P., Carter, P., King, R. I., Krausz, C., Van Ravenswaaij-Arts, C. M. A., Looijenga, L., Drop, S., Riedl, S., Cools, M., Dawson, A., Juniarto, A. Z., Khadilkar, V., Khadilkar, A., Bhatia, V., Dũng, V. C., Atta, I., Raza, J., Thi Diem Chi, N., Hao, T. K. & Harley, V., 29 Nov 2016, In: Genome Biology. 17, 1, p. 1-21 243.

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

Open Access

256 Citations (Scopus)

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service

Baynam, G., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Walker, C. E. E., Molster, C., Blackwell, J. M., Jamieson, S., Tang, D., Lassmann, T., Mina, K., Beilby, J. & Davis, M. & 5 others, Laing, N., Murphy, L., Weeramanthri, T., Dawkins, H. & Goldblatt, J., 11 Jun 2016, In: Orphanet Journal of Rare Diseases. 11, 1, 7 p., 77.

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

Open Access

47 Citations (Scopus)

X-linked congenital adrenal hypoplasia with a novel NR0B1/DAX gene mutation

Abraham, M., Shetty, V., McKenzie, F. & Curran, J., 1 Jun 2016, In: Indian Pediatrics. 53, 6, p. 529-531 3 p.

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

1 Citation (Scopus)

2015

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

Mcinerney-Leo, A. M., Harris, J. E., Leo, P. J., Marshall, M. S., Gardiner, B., Kinning, E., Leong, H. Y., Mckenzie, F., Ong, W. P., Vodopiutz, J., Wicking, C., Brown, M. A., Zankl, A. & Duncan, E. L., Dec 2015, In: Clinical Genetics. 88, 6, p. 550-557

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

46 Citations (Scopus)

2014

Human genetics society of Australasia position statement: Population-based carrier screening for cystic fibrosis

Delatycki, M. B., Burke, J., Christie, L., Collins, F., Gabbett, M., George, P. M., Haan, E., Ioannou, L., Martin, N., McKenzie, F., O'Leary, P., Scoble-Williams, N., Turner, G. & Massie, J., 5 Dec 2014, In: Twin Research and Human Genetics. 17, 6, p. 578-583 6 p.

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

11 Citations (Scopus)

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

Lazarus, S., Mcinerney-Leo, A. M., Mckenzie, F., Baynam, G., Broley, S., Cavan, B. V., Munns, C. F. J., Pruijs, J. E. H., Sillence, D. O., Terhal, P. A., Pryce, K., Brown, M. A., Zankl, A., Thomas, G. P. & Duncan, E. L., 27 Mar 2014, In: BMC Musculoskeletal Disorders. 15, 1, p. 6pp

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

Open Access

22 Citations (Scopus)

2013

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Ellaway, C. J., Ho, G., Bettella, E., Knapman, A., Collins, F., Hackett, A., McKenzie, F., Darmanian, A., Peters, G. B., Fagan, K. & Christodoulou, J., May 2013, In: European Journal of Human Genetics. 21, 5, p. 522-527 6 p.

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

36 Citations (Scopus)

Defects in the IFT-B component IFT172 cause jeune and mainzer-saldino syndromes in humans

Halbritter, J., Bizet, A. A., Schmidts, M., Porath, J. D., Braun, D. A., Gee, H. Y., Mcinerney-Leo, A. M., Krug, P., Filhol, E., Davis, E. E., Airik, R., Czarnecki, P. G., Lehman, A. M., Trnka, P., Nitschké, P., Bôle-Feysot, C., Schueler, M., Knebelmann, B., Burtey, S. & Szabó, A. J. & 29 others, Tory, K., Leo, P. J., Gardiner, B., Mckenzie, F., Zankl, A., Brown, M. A., Hartley, J. L., Maher, E. R., Li, C., Leroux, M. R., Scambler, P. J., Zhan, S. H., Jones, S. J., Kayserili, H., Tüysüz, B., Moorani, K. N., Constantinescu, A., Krantz, I. D., Kaplan, B. S., Shah, J. V., Hurd, T. W., Doherty, D. A., Katsanis, N., Duncan, E. L., Otto, E. A., Beales, P. L., Mitchison, H. M., Saunier, S. & Hildebrandt, F., 2013, In: American Journal of Human Genetics. 93, 5, p. 915-925

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

Open Access

183 Citations (Scopus)

2011

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

Dibbens, L. M., Kneen, R., Bayly, M. A., Heron, S. E., Arsov, T., Damiano, J. A., Desai, T., Gibbs, J., McKenzie, F., Mulley, J. C., Ronan, A. & Scheffer, I. E., 26 Apr 2011, In: Neurology. 76, 17, p. 1514-1519 6 p.

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

46 Citations (Scopus)

2008

Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

Prattichizzo, C., Macca, M., Novelli, V., Giorgio, G., Barra, A., Franco, B., Abdulla, F., Abramowicz, M., Amy, S. W., Schafer, I., Bankier, A. A., White, S., Barcina, M. G., Bartoshesky, L. E., Jenny, K., Beemer, F. A., Benke, G. P., Betz, R. C., Bianchini, G. & Garavelli, L. & 100 others, Bigoni, S., Bird, L., Chibuk, J., Masser-Frye, D., Brunetti, N., Scarcella, A., Brunner, H. G., Burn, J., Carmi, R., Castellan, C., Castelluccio, P., Castle, B., Chiong, M. A., Cutiongco, E. M., Collins, F., Couchon, E., Curry, A., Pastore, M., Curry, C., Swenerton, A., Treisman, T., Dean, J., Devriendt, K., Matthijs, G., Dunlap, J. W., Shashi, V., Elcioglu, N. H., Farndon, P., Ferrero, G. B., Ferrier, R., Foulds, N., Friedman, J. M., Gal-Yam, A., Orth, U., Gardner, M. G., Gerola, O., Gillessen-Kaesbach, G., Giuliano, F., Turc-Carel, C., Gödde, E., Graber, V., Graham, G. E., Gurrieri, F., Harbour, L., Henderson, A., Jones, E., Heran, H., Homfray, T., Taylor, R., Iwarsson, E., Jensen, O. P., Jezela-Stanek, A., Joss, S., Taylor, G., Keeling, S. L., Klatt, R., Teebi, A., Klehr-Martinelli, M., Kotzot, D., Lees, M., Loughlin, S., Lhotta, K., Macdonald, F. A., Mari, F., Renieri, A., Marlin, S., McGaughran, J., McKenzie, F., McLeod, D. R., Megarbane, A., Mota, C. R., Mucke, J., Tzschach, A., Obersztyn, E., Okhowat, R., Shinzel, A., Pfau, R., Pober, B., Raymond, F. L., Reich, E., Reimschisel, T., Robertson, J., Roggenbuck, J., Sabato, A., Sanchez Del Pozo, J., Schell-Apacik, C., Schwaab, E., Selicorni, A., Sell, S., Smithson, S. L., Stray-Pedersen, A., Tan, T., Thiese, H., Van Tol, M. J., Toprak, O., Trump, D., Whittaker, J., Williams, D., Zelante, L. & Zoll, B., Oct 2008, In: Human Mutation. 29, 10, p. 1237-1246 10 p.

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

80 Citations (Scopus)

2007

A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia

McKenzie, F. A., Fietz, M., Fletcher, J., Smith, R. L. L., Wright, I. M. R. & Jaeken, J., 1 Sept 2007, In: American Journal of Medical Genetics, Part A. 143, 17, p. 2029-2034 6 p.

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

12 Citations (Scopus)

2006

Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops

Edwards, M., McKenzie, F., O'Callaghan, S., Somerset, D., Woodford, P., Spilsbury, J., Fietz, M. & Fletcher, J., Oct 2006, In: Prenatal Diagnosis. 26, 10, p. 985-988 4 p.

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

34 Citations (Scopus)

2005

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

MacDermot, K. D., Bonora, E., Sykes, N., Coupe, A. M., Lai, C. S. L., Vernes, S. C., Vargha-Khadem, F., McKenzie, F., Smith, R. L., Monaco, A. P. & Fisher, S. E., Jun 2005, In: American Journal of Human Genetics. 76, 6, p. 1074-1080 7 p.

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

341 Citations (Scopus)

Mild phenotypes in a series of patients with opitz GBBB syndrome with MID1 mutations

So, J., Suckow, V., Kijas, Z., Kalscheuer, V., Moser, B., Winter, J., Baars, M., Firth, H., Lunt, P., Hamel, B., Meinecke, P., Moraine, C., Odent, S., Schinzel, A., Van Der Smagt, J. J., Devriendt, K., Albrecht, B., Gillessen-Kaesbach, G., Van Der Burgt, I. & Petrij, F. & 6 others, Faivre, L., McGaughran, J., McKenzie, F., Opitz, J. M., Cox, T. & Schweiger, S., 1 Jan 2005, In: American Journal of Medical Genetics Part A. 132 A, 1, p. 1-7 7 p.

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

59 Citations (Scopus)

2004

De novo interstitial duplication 4(q28.1q35) associated with choanal atresia

Lin, S., Kirk, E. P. E., McKenzie, F., Francis, C., Shalhoub, C. & Turner, A. M., Jul 2004, In: Journal of Paediatrics and Child Health. 40, 7, p. 401-403 3 p.

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

27 Citations (Scopus)

2003

Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome

Elliott, D. A., Kirk, E. P., Yeoh, T., Chandar, S., McKenzie, F., Taylor, P., Grossfeld, P., Fatkin, D., Jones, O., Hayes, P., Feneley, M. & Harvey, R. P., 4 Jun 2003, In: Journal of the American College of Cardiology. 41, 11, p. 2072-2076 5 p.

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

230 Citations (Scopus)

2002

Dominant inheritance of cleft palate, microstomia and micrognathia - Possible linkage to the fragile site at 16q22 (FRA16B)

McKenzie, F., Turner, A., Withers, S., Dalzell, P., McGlynn, M. & Kirk, E. P., Oct 2002, In: Clinical Dysmorphology. 11, 4, p. 237-241 5 p.

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

12 Citations (Scopus)

Fiona McKenzie

Research output

Search results