Publications
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Gudmundsson S, Singer-Berk M, Stenton SL, Goodrich JK, Wilson MW, Einson J, Watts NA, Genome Aggregation Consortium, Lappalainen T, Rehm HL, MacArthur DG, O’Donnell-Luria A
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Epi25 Collaborative
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand
Musgrave SM, Taylor J, Whitford W, Garton A, Poquérusse J, Hawkins V, Port W, Moodley KS, Monk R, Knowles SD, Walker C, Samson C, Velzian L, Swan B, DR, Hill R, Muir C, Talkowski ME, Lowther C*, Snell RG, Lehnert K, Jessie C Jacobsen JC
The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality
Liao C, Ye R, Ivankovic F, Fu JM, Walters R, Lowther C*, Valkanas E, Churchhouse C, Samocha KE, Lindbald-Toh K, Karlsson E, Hiller M, Talkowski ME, Neale BM
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Lowther C*, Valkanas E, Giordano JL, Wang HZ, Currall BB, O’Keefe K, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Aggarwal V, Lucente D, Gauthier LD, Tolonen C, Sahakian N, An J-Y, Dong S, Norton ME, MacKenzie T, Devlin B, Gilmore K, Powell B, Brandt A, Vetrini F, DiVito M, Goldstein DB, Sanders SJ, MacArthur DG, Hodge JC
Points to consider in the detection of germline structural variants using next generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Raca G, Astbury C, Behlmann A, De Castro MJ, Hickey SE, Karaca E, Lowther C*, Seifert BA, Thorland EC, Riggs ER, Deignan JL, ACMG Laboratory Quality Assurance Committee
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
Mohajeri K, Yadav R, D’Haene E, Boone PM, Erdin E, Gao D, Moyses Oliveira M, Bhavsar R, Currall BB, O’Keefe K, Lowther C*, Lucente D, Burt ND, Salani M, Larson M, Menten B, Tai JC, Gusella J, Vergult S, Talkowksi ME
A cross-disorder dosage sensitivity map of the human genome
Collins RL, Glessner JT, Porcu E, Niestroj LM, Ulirsch J, Kellaris G, Howrigan DP, Everett S, Mohajerie K, Nuttle X, Lowther C*, Fu J, Boone PH, Samocha K, Karczewski K, Gusella JF, Finucane H, Lal D, Neale BM, Hodge JC, Reymond A, Kutalik Z, Katsanis N, Davis E, Hakonarson H, Sunyaev S, Brand H, Talkowski ME
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
Lowther C*, Mehrjouy MM, Collins RL, Bak MC, Dudchenko O, Brand H, Dong Z, Rasmussen MB, Gu H, Weisz D, Nazaryan-Petersen L, Fjorder AS, Mang Y, Lind-Thomsen A, Mendez JMM, Calle X, Chopra A, Hansen C, Bugge M, Broekema RV, Varilo T, Luukkonen T, Engelen J, Vianna-Morgante AM, Fonseca ACS, Mazzeu JF, Dornelles-Wawruk H, Abe KT, Vermeesch JR, Van Den Bogaert K, Sismani C, Aristidou C, Evangelidou P, Schinzel AA, Sanlaville D, Schluth-Bolard C, Kalscheuer VM, Wenzel M, Kim H, Õunap K, Roht L, Midyan S, Bonaglia MC, Lindstrand A, Eisfeldt J, Ottosson J, Nilsson D, Pettersson M, Bastos EF, Rajcan-Separovic E, Silan F, Sheth FJ, Novelli A, Frengen E, Fannemel M, Strømme P, Kokalj Vokač N, Daumer-Haas C, Moretti-Ferreira D, de Souza DH, Ramos-Arroyo MA, Igoa MM, Angelova L, Kroisel PM, del Rey G, Vieira TAP, Lewis S, Hao W, Drabova J, Havlovicova M, Hancarova M, Sedláček Z, Vogel I, Hjortshøj TD, Møller RS, Tümer Z, Fagerberg Z, Ousager LB, Schönewolf-Greulich B, Lauridsen M, Piard J, Pebrel-Richard C, Jaillard S, Ehmke N, Stefanou EG, Marta C, György K, Dalal A, Dutta UR, Shukla R, Lonardo F, Zuffardi O, Houge G, Misceo D, Baig SM, Midro A, Wawrusiewicz-Kurylonek N, Carreira IM, Melo JB, Rodriguez Martinez L, Guitart M, Lovmar L, Gullander J, Hansson KBM, de Almeida Esteves C, Akkari Y, Batanian JR, Li X, Lespinasse J, Silahtaroglu A, Halgren Harding C, Krogh LN, Taylor J, Lehnert K, Hill R, Snell RG, Samson CA, Jacobsen JC, Levy B, Clark OA, Toylu A, Nur B, Mihci E, O’Keefe K, Mohajeri-Stickels K, Wilch ES, Kammin T, Piña-Aguilar RE, Nalbandian K, Temel SG, Ozemri Sag S, Turkgenc B, Kamath A, Ruiz-Herrera A, Banka S, Schilit SLP, Currall BB, Yachelevich N, Galloway S, Chung WK, Raskin S, Maya I, Orenstein N, Kropach Gilad N, Flamenbaum KR, Hay BN, Morton CC, Liao E, Choy KW, Gusella JF, Jacky P, Lieberman Aiden E, International Breakpoint Mapping Consortium, Danish Cytogenetic Central Registry Study Group, Developmental Genome Anatomy Project, Bache I, Talkowski ME, Tommerup N
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
Zhao X, Collins RL, Lee WP, Weber AM, Jun Y, Zhu O, Weisburd B, Huang Y, Audano PA, Walker M, Lowther C*, Fu J, Gerstein MB, Devine SE, Marschall T, Korbel JO, Eichler EE, Chaisson MJP, Lee C, Mills RE, Brand H, Talkowski ME
A structural variation reference for medical and population genetics
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Khera AV, Lowther C*, Gauthier LD, Wang H, Watts NA, Solomonson M, O’Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tia G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Genome Aggregation Database Production Team; Genome Aggregation Database Consortium, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Pholoppakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Tallkowski ME
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C*, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T, Philip N, Campbell LE, McCabe KL, Hooper SR, Schoch K, Shashi V, Simon TJ, Tassone F, Arango C, Fraguas D, García-Miñaúr S, Morey-Canyelles J, Rosell J, Suñer DH, Raventos-Simic J, International 22q11.2DS Brain and Behavior Consortium, Epstein MP, Williams NM, Bassett AS
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C*, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS
Risks and recommendations in prenatally detected de novo balanced chromosomal rearrangements from assessment of long term outcomes
Halgren C, Nielsen NM, Nazaryan-Petersen L, Silahtaroglu A, Collins RL, Lowther C*, Kjaergaard S, Frisch M, Kirchhoff M, Brøndum-Nielsen K, Lind-Thomsen A, Mang Y, El-Schich Z, Boring CA, Mehrjouy MM, Jensen PKA, Fagerberg C, Krogh LN, Hansen J, Bryndorf T, Hansen C, Talkowski ME, Bak M, Tommerup N, Bache I
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia
Lowther C*, Merico D, Costain G, Waserman J, Boyd K, Noor A, Speevak M, Stavropoulos DJ, Wei J, Lionel AC, Marshall CR, Scherer SW, Bassett AS
Genomic disorders in psychiatry – what does the clinician need to know?
Lowther C*, Costain G, Baribeau D, Bassett AS
Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome
Bassett AS, Lowther C*, Merico D, Costain G, Chow EWC, et al.
De novo large rare copy number variations contribute to conotruncal heart disease in Chinese patients
Mak CCY, Chow PC, Liu APY, Chan KYK, Chu YWY, Mok GTK, Leung GKC, Yeung KS, Chau AKT, Lowther C*, Scherer SW, Marshall CR, Bassett AS, Chung BHY
Chromosomal contacts connect loci associated with autism, BMI, and head circumference phenotypes
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM, Lowther C*, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identified exons important for neurodevelopmental disease expression
Lowther C*, Speevak M, Armour CM, Goh ES, Graham GE, Li C, Zeesman S, Nowaczyk MJ, Schultz LA, Morra A, Nicolson R, Bikangaga P, Samdup D, Zaazou M, Boyd K, Jung JH, Siu V, Rajguru M, Goobie S, Tarnopolsky MA, Prasad C, Dick PT, Hussain AS, Walinga M, Reijenga RG, Gazzellone M, Lionel AC, Marshall CR, Scherer SW, Stavropoulos DJ, McCready E, Bassett AS
Parental origin of interstitial duplications at 15q11.2-q13.3 in schizophrenia and neurodevelopmental disorders
Isles AR, Ingason A, Lowther C*, Walters J, Gawlick M, Stöber G, Rees E, Martin J, Little RB, Potter H, Georgieva L, Pizzo L, Ozaki N, Aleksic B, Kushima I, Ikeda M, Iwata N, Levinson DF, Gejman PV, Shi J, Sanders AR, Duan J, Willis J, Sisodiya S, Costain G, Werge TM, Degenhardt F, Giegling I, Rujescu D, Hreidarsson SJ, Saemundsen E, Ahn JW, Ogilvie C, Girirajan SD, Stefansson H, Stefansson K, O'Donovan MC, Owen MJ, Bassett A, Kirov G
Reproductive genetic testing and human genetic variation in the era of genomic medicine
Lowther C*, Costain G, Bassett AS
Deletion of 15q11.2 BP1-BP2 region: Further evidence for lack of phenotypic specificity in a pediatric population
Hashemi B, Bassett A, Chitayat D, Chong K, Feldman M, Flanagan J, Goobie S, Kawamura A, Lowther C*, Prasad C, Siu V, So J, Tung S, Speevak M, Stavropoulos DJ, Carter M
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
Lowther C*, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS
Schizophrenia in an adult with a 3q13.31 microdeletion
Lowther C*, Melvin B, Stavropoulos DJ, Costain G, Bassett AS
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays
Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C*, Yuen T, Husted J, Stavropoulos DJ, Speevak M, Chow EW, Marshall CR, Scherer SW, Bassett AS
