Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 165

1.

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.

Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T.

Genet Med. 2020 Feb 26. doi: 10.1038/s41436-020-0768-7. [Epub ahead of print]

PMID:
32099069
3.

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.

Downie L, Halliday J, Lewis S, Lunke S, Lynch E, Martyn M, Gaff C, Jarmolowicz A, Amor DJ.

Genet Med. 2020 Jan 24. doi: 10.1038/s41436-019-0745-1. [Epub ahead of print]

PMID:
31974413
4.

Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome.

Baker EK, Arpone M, Vera SA, Bretherton L, Ure A, Kraan CM, Bui M, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field MJ, Cohen J, Maria LS, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE.

J Neurodev Disord. 2019 Dec 26;11(1):41. doi: 10.1186/s11689-019-9288-7.

5.

American Heart Association ideal cardiovascular health score and subclinical atherosclerosis in 22-35-year-old adults conceived with and without assisted reproductive technologies.

Juonala M, Lewis S, McLachlan R, Hammarberg K, Kennedy J, Saffery R, McBain J, Welsh L, Cheung M, Doyle LW, Amor DJ, Burgner DP, Halliday J.

Hum Reprod. 2020 Jan 1;35(1):232-239. doi: 10.1093/humrep/dez240.

PMID:
31834929
6.

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.

Downie L, Halliday J, Burt R, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter MF, Saunders K, Rose E, Lewis S, Jarmolowicz A, Phelan D, Rehm HL; Melbourne Genomics Health Alliance, Amor DJ.

Eur J Hum Genet. 2019 Dec 12. doi: 10.1038/s41431-019-0553-8. [Epub ahead of print]

PMID:
31827275
7.

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.

Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, Piton A, Vincent-Delorme C, Zweier C, Reis A, Trollmann R, Ruiz A, Gabau E, Vetro A, Guerrini R, Bakhtiari S, Kruer MC, Amor DJ, Cooper MS, Bijlsma EK, Barakat TS, van Dooren MF, van Slegtenhorst M, Pfundt R, Gilissen C, Willemsen MA, de Vries BBA, de Brouwer APM, Koolen DA.

Genet Med. 2019 Nov 28. doi: 10.1038/s41436-019-0703-y. [Epub ahead of print]

PMID:
31776469
8.

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

Rius R, Van Bergen NJ, Compton AG, Riley LG, Kava MP, Balasubramaniam S, Amor DJ, Fanjul-Fernandez M, Cowley MJ, Fahey MC, Koenig MK, Enns GM, Sadedin S, Wilson MJ, Tan TY, Thorburn DR, Christodoulou J.

J Clin Med. 2019 Nov 19;8(11). pii: E2020. doi: 10.3390/jcm8112020.

9.

DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders.

Godler DE, Amor DJ.

Essays Biochem. 2019 Dec 20;63(6):785-795. doi: 10.1042/EBC20190056.

PMID:
31696914
10.

Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.

Hensel CH, Vanzo RJ, Martin MM, Ling L, Aliaga SM, Bui M, Francis DI, Twede H, Field MH, Morison JW, Amor DJ, Godler DE.

Sci Rep. 2019 Oct 25;9(1):15315. doi: 10.1038/s41598-019-51618-7.

11.

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response.

Johnson JL, Stoica L, Liu Y, Zhu PJ, Bhattacharya A, Buffington SA, Huq R, Eissa NT, Larsson O, Porse BT, Domingo D, Nawaz U, Carroll R, Jolly L, Scerri TS, Kim HG, Brignell A, Coleman MJ, Braden R, Kini U, Jackson V, Baxter A, Bahlo M, Scheffer IE, Amor DJ, Hildebrand MS, Bonnen PE, Beeton C, Gecz J, Morgan AT, Costa-Mattioli M.

Neuron. 2019 Nov 20;104(4):665-679.e8. doi: 10.1016/j.neuron.2019.08.027. Epub 2019 Oct 1.

PMID:
31585809
12.

Childhood Hearing Australasian Medical Professionals network: Consensus guidelines on investigation and clinical management of childhood hearing loss.

Sung V, Downie L, Paxton GA, Liddle K, Birman CS, Chan WW, Cottier C, Harris A, Hunter M, Peadon E, Peacock K, Roddick L, Rose E, Saunders K, Amor DJ.

J Paediatr Child Health. 2019 Sep;55(9):1013-1022. doi: 10.1111/jpc.14508. No abstract available.

PMID:
31524978
13.

Assisted reproductive technologies are associated with limited epigenetic variation at birth that largely resolves by adulthood.

Novakovic B, Lewis S, Halliday J, Kennedy J, Burgner DP, Czajko A, Kim B, Sexton-Oates A, Juonala M, Hammarberg K, Amor DJ, Doyle LW, Ranganathan S, Welsh L, Cheung M, McBain J, McLachlan R, Saffery R.

Nat Commun. 2019 Sep 2;10(1):3922. doi: 10.1038/s41467-019-11929-9.

14.

Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption.

Myers KA, van 't Hof FNG, Sadleir LG, Legault G, Simard-Tremblay E, Amor DJ, Scheffer IE.

Pediatrics. 2019 Sep;144(3). pii: e20190599. doi: 10.1542/peds.2019-0599. Epub 2019 Aug 22.

PMID:
31439621
15.

Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.

Field M, Dudding-Byth T, Arpone M, Baker EK, Aliaga SM, Rogers C, Hickerton C, Francis D, Phelan DG, Palmer EE, Amor DJ, Slater H, Bretherton L, Ling L, Godler DE.

Int J Mol Sci. 2019 Aug 11;20(16). pii: E3907. doi: 10.3390/ijms20163907.

16.

HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.

Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K.

Am J Med Genet A. 2019 Oct;179(10):2049-2055. doi: 10.1002/ajmg.a.61321. Epub 2019 Aug 9.

PMID:
31400068
17.

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia.

Sleigh JW, Leslie K, Davidson AJ, Amor DJ, Diakumis P, Lukic V, Lockhart PJ, Bahlo M.

Anesthesiology. 2019 Nov;131(5):974-982. doi: 10.1097/ALN.0000000000002877.

PMID:
31335548
18.

Expansion of phenotype of DDX3X syndrome: six new cases.

Beal B, Hayes I, McGaughran J, Amor DJ, Miteff C, Jackson V, van Reyk O, Subramanian G, Hildebrand MS, Morgan AT, Goel H.

Clin Dysmorphol. 2019 Oct;28(4):169-174. doi: 10.1097/MCD.0000000000000289.

PMID:
31274575
19.

IREB2-associated neurodegeneration.

Cooper MS, Stark Z, Lunke S, Zhao T, Amor DJ.

Brain. 2019 Aug 1;142(8):e40. doi: 10.1093/brain/awz183. No abstract available.

PMID:
31243445
20.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ.

Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.

21.

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.

Baker EK, Arpone M, Aliaga SM, Bretherton L, Kraan CM, Bui M, Slater HR, Ling L, Francis D, Hunter MF, Elliott J, Rogers C, Field M, Cohen J, Cornish K, Santa Maria L, Faundes V, Curotto B, Morales P, Trigo C, Salas I, Alliende AM, Amor DJ, Godler DE.

Mol Autism. 2019 May 3;10:21. doi: 10.1186/s13229-019-0271-7. eCollection 2019.

22.

Exploring the speech and language of individuals with non-syndromic submucous cleft palate: a preliminary report.

Boyce JO, Sanchez K, Amor DJ, Reilly S, Da Costa A, Kilpatrick N, Morgan AT.

Int J Lang Commun Disord. 2019 Sep;54(5):767-778. doi: 10.1111/1460-6984.12474. Epub 2019 May 2.

PMID:
31045304
23.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havránková P, Fečíková A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J.

Genet Med. 2019 Nov;21(11):2532-2542. doi: 10.1038/s41436-019-0523-0. Epub 2019 Apr 30.

24.

Health of adults aged 22 to 35 years conceived by assisted reproductive technology.

Halliday J, Lewis S, Kennedy J, Burgner DP, Juonala M, Hammarberg K, Amor DJ, Doyle LW, Saffery R, Ranganathan S, Welsh L, Cheung M, McBain J, Hearps SJC, McLachlan R.

Fertil Steril. 2019 Jul;112(1):130-139. doi: 10.1016/j.fertnstert.2019.03.001. Epub 2019 Apr 16.

PMID:
31003618
25.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ.

Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11.

26.

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.

MacLennan AH, Lewis S, Moreno-De-Luca A, Fahey M, Leventer RJ, McIntyre S, Ben-Pazi H, Corbett M, Wang X, Baynam G, Fehlings D, Kurian MA, Zhu C, Himmelmann K, Smithers-Sheedy H, Wilson Y, Ocaña CS, van Eyk C, Badawi N, Wintle RF, Jacobsson B, Amor DJ, Mallard C, Pérez-Jurado LA, Hallman M, Rosenbaum PJ, Kruer MC, Gecz J.

J Child Neurol. 2019 Jul;34(8):472-476. doi: 10.1177/0883073819840449. Epub 2019 Apr 9.

27.

Correction: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.

Zhang L, Bao Y, Riaz M, Tiller J, Liew D, Zhuang X, Amor DJ, Huq A, Petelin L, Nelson M, James PA, Winship I, McNeil JJ, Lacaze P.

Genet Med. 2019 Sep;21(9):2162-2163. doi: 10.1038/s41436-019-0515-0.

PMID:
30944416
28.

Speech and language in children with Klinefelter syndrome.

St John M, Ponchard C, van Reyk O, Mei C, Pigdon L, Amor DJ, Morgan AT.

J Commun Disord. 2019 Mar - Apr;78:84-96. doi: 10.1016/j.jcomdis.2019.02.003. Epub 2019 Feb 12.

PMID:
30822601
29.

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis.

Zhang L, Bao Y, Riaz M, Tiller J, Liew D, Zhuang X, Amor DJ, Huq A, Petelin L, Nelson M, James PA, Winship I, McNeil JJ, Lacaze P.

Genet Med. 2019 Sep;21(9):1958-1968. doi: 10.1038/s41436-019-0457-6. Epub 2019 Feb 18. Erratum in: Genet Med. 2019 Apr 4;:.

30.

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

Tan NB, Tan TY, Martyn MM, Savarirayan R, Amor DJ, Moody A, White SM, Stark Z.

J Paediatr Child Health. 2019 Nov;55(11):1309-1314. doi: 10.1111/jpc.14398. Epub 2019 Feb 12.

PMID:
30756437
31.

The Genetic Landscape of Diamond-Blackfan Anemia.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.

Am J Hum Genet. 2019 Feb 7;104(2):356. doi: 10.1016/j.ajhg.2018.12.011. No abstract available.

32.

The Genetic Landscape of Diamond-Blackfan Anemia.

Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.

Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):356.

33.

Characterization of speech and language phenotype in children with NRXN1 deletions.

Brignell A, St John M, Boys A, Bruce A, Dinale C, Pigdon L, Hildebrand MS, Amor DJ, Morgan AT.

Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):700-708. doi: 10.1002/ajmg.b.32664. Epub 2018 Oct 25.

PMID:
30358070
34.

Investigating the child with intellectual disability.

Amor DJ.

J Paediatr Child Health. 2018 Oct;54(10):1154-1158. doi: 10.1111/jpc.14202. Review.

PMID:
30294993
35.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.

Genet Med. 2019 Apr;21(4):816-825. doi: 10.1038/s41436-018-0266-3. Epub 2018 Sep 7.

36.

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Dagar V, Hutchison W, Muscat A, Krishnan A, Hoke D, Buckle A, Siswara P, Amor DJ, Mann J, Pinner J, Colley A, Wilson M, Sachdev R, McGillivray G, Edwards M, Kirk E, Collins F, Jones K, Taylor J, Hayes I, Thompson E, Barnett C, Haan E, Freckmann ML, Turner A, White S, Kamien B, Ma A, Mackenzie F, Baynam G, Kiraly-Borri C, Field M, Dudding-Byth T, Algar EM.

Clin Epigenetics. 2018 Aug 30;10(1):114. doi: 10.1186/s13148-018-0546-4.

37.

Epigenetics of fragile X syndrome and fragile X-related disorders.

Kraan CM, Godler DE, Amor DJ.

Dev Med Child Neurol. 2019 Feb;61(2):121-127. doi: 10.1111/dmcn.13985. Epub 2018 Aug 7. Review.

38.

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.

Baker EK, Godler DE, Bui M, Hickerton C, Rogers C, Field M, Amor DJ, Bretherton L.

J Neurodev Disord. 2018 Aug 6;10(1):24. doi: 10.1186/s11689-018-9242-0.

39.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee HC, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann ML, Kirk EP, Sachdev R, Lemberg DA, Delatycki MB, Kamm MA, Basnayake C, Lamont PJ, Amor DJ, Jones K, Schilperoort J, Davis MR, Laing NG.

Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21.

PMID:
29781137
40.

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

de Vos IJHM, Tao EY, Ong SLM, Goggi JL, Scerri T, Wilson GR, Low CGM, Wong ASW, Grussu D, Stegmann APA, van Geel M, Janssen R, Amor DJ, Bahlo M, Dunn NR, Carney TJ, Lockhart PJ, Coull BJ, van Steensel MAM.

Hum Mol Genet. 2018 Aug 15;27(16):2775-2788. doi: 10.1093/hmg/ddy168.

41.

A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

Downie L, Halliday JL, Burt RA, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter M, Saunders K, Rose E, Rehm HL, Amor DJ.

BMJ Paediatr Open. 2017 Sep 14;1(1):e000119. doi: 10.1136/bmjpo-2017-000119. eCollection 2017.

42.

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

Kraan CM, Bui QM, Field M, Archibald AD, Metcalfe SA, Christie LM, Bennetts BH, Oertel R, Smith MJ, du Sart D, Bruno D, Wotton TL, Amor DJ, Francis D, Godler DE.

Genet Med. 2018 Dec;20(12):1627-1634. doi: 10.1038/gim.2018.52. Epub 2018 Mar 29.

PMID:
29595813
43.

Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation.

Mohandas N, Bass-Stringer S, Maksimovic J, Crompton K, Loke YJ, Walstab J, Reid SM, Amor DJ, Reddihough D, Craig JM.

Clin Epigenetics. 2018 Feb 23;10:25. doi: 10.1186/s13148-018-0457-4. eCollection 2018.

44.

Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.

Arpone M, Baker EK, Bretherton L, Bui M, Li X, Whitaker S, Dissanayake C, Cohen J, Hickerton C, Rogers C, Field M, Elliott J, Aliaga SM, Ling L, Francis D, Hearps SJC, Hunter MF, Amor DJ, Godler DE.

Sci Rep. 2018 Feb 26;8(1):3644. doi: 10.1038/s41598-018-21990-x.

45.

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.

Mei C, Fedorenko E, Amor DJ, Boys A, Hoeflin C, Carew P, Burgess T, Fisher SE, Morgan AT.

Eur J Hum Genet. 2018 May;26(5):676-686. doi: 10.1038/s41431-018-0102-x. Epub 2018 Feb 14.

46.

Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors.

Amor DJ, Kerr A, Somanathan N, McEwen A, Tome M, Hodgson J, Lewis S.

Reprod Health. 2018 Feb 9;15(1):26. doi: 10.1186/s12978-018-0468-9.

47.

Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.

Halliday JL, Muller C, Charles T, Norris F, Kennedy J, Lewis S, Meiser B, Donath S, Stark Z, McGillivray G, Menezes M, Smith SK, Forster D, Walker S, Pertile M, Amor DJ.

Eur J Hum Genet. 2018 Apr;26(4):485-494. doi: 10.1038/s41431-017-0084-0. Epub 2018 Feb 6.

48.

Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, Barns-Jenkins C, Holt C, Sandoval K, Kumar VS, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ.

Genet Med. 2018 Nov;20(11):1485. doi: 10.1038/gim.2017.266.

PMID:
29388943
49.

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.

Harms FL, Alawi M, Amor DJ, Tan TY, Cuturilo G, Lissewski C, Brinkmann J, Schanze D, Kutsche K, Zenker M.

Am J Med Genet A. 2018 Feb;176(2):470-476. doi: 10.1002/ajmg.a.38569. Epub 2017 Dec 22.

PMID:
29271604
50.

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, McDonald Z, Barns-Jenkins C, Holt C, Sandoval K, Siva Kumar V, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ.

Genet Med. 2018 Apr;20(5):513-523. doi: 10.1038/gim.2017.134. Epub 2017 Oct 26. Erratum in: Genet Med. 2018 Feb 01;:.

PMID:
29261177

Supplemental Content

Support Center