Britt Marie Anderlid

Publications
CV
Public outreach and news

Articles

Article: BIOLOGY OPEN. 2023;12(10):bio060113
Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis
Mastropasqua F; Oksanen M; Soldini C; Alatar S; Arora A; Ballarino R; Molinari M; Agostini F; Poulet A; Watts M; Rabkina I; Becker M; Li D; Anderlid B-M; Isaksson J; Remnelius KL; Moslem M; Jacob Y; Falk A; Crosetto N; Bienko M; Santini E; Borgkvist A; Bo''lte S; Tammimies K
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023;66(10):104824
Tissue specific trisomy 15 mosaicism associated with urogenital malformations
Nordenskjold A; Lagerstedt-Robinson K; Anderlid B-M; Lundin J
Article: GENETICS IN MEDICINE. 2023;25(8):100856
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Caron V; Chassaing N; Ragge N; Boschann F; Ngu AM-H; Meloche E; Chor S; Lakhani SA; Ji W; Steiner L; Marcadier J; Jansen PR; van de Pol LA; van Hagen JM; Russi AS; Le Guyader G; Nordenskjold M; Nordgren A; Anderlid B-M; Plaisancie J; Stoltenburg C; Horn D; Drenckhahn A; Hamdan FF; Lefebvre M; Attie-Bitach T; Forey P; Smirnov V; Ernould F; Jacquemont M-L; Grotto S; Alcantud A; Coret A; Ferrer-Avargues R; Srivastava S; Vincent-Delorme C; Romoser S; Safina N; Saade D; Lupski JR; Calame DG; Genevieve D; Chatron N; Schluth-Bolard C; Myers KA; Dobyns WB; Calvas P; Salmon C; Holt R; Elmslie F; Allaire M; Prigozhin DM; Tremblay A; Michaud JL
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023;66(7):104773
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22
Koza SA; Tabet AC; Bonaglia MC; Andres S; Anderlid B-M; Aten E; Stiefsohn D; Evans DG; van Ravenswaaij-Arts CMA; Kant SG
Article: BRAIN COMMUNICATIONS. 2023;5(4):fcad213
Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort
Kolbjer S; Munoz DAM; OIrtqvist AK; Pettersson M; Hammarsjo A; Anderlid B-M; Dahlin M
Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders
Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir HT; Arnardottir S; Naess K; Nennesmo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: EPILEPSIA. 2022;63(8):2096-2107
Outcome at age 7 of epilepsy presenting in the first 2 years of life. A population-based study
Stodberg T; Tomson T; Anderlid B-M; Andersson T; Henry O; Amark P; Wedell A
Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022;23(14):8001
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
Verberne EA; van der Laan L; Haghshenas S; Rooney K; Levy MA; Alders M; Maas SM; Jansen S; Lieden A; Anderlid B-M; Rafael-Croes L; Campeau PM; Chaudhry A; Koolen DA; Pfundt R; Hurst ACE; Tran-Mau-Them F; Bruel A-L; Lambert L; Isidor B; Mannens MMAM; Sadikovic B; Henneman P; van Haelst MM
Article: NPJ GENOMIC MEDICINE. 2022;7(1):11
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Zhao S; Zhang Y; Hallgrimsdottir S; Zuo Y; Li X; Batkovskyte D; Liu S; Lindelof H; Wang S; Hammarsjo A; Yang Y; Ye Y; Wang L; Yan Z; Lin J; Yu C; Chen Z; Niu Y; Wang H; Zhao Z; Liu P; Qiu G; Posey JE; Wu Z; Lupski JR; Micule I; Anderlid B-M; Voss U; Sulander D; Kuchinskaya E; Nordgren A; Nilsson O; Zhang TJ; Grigelioniene G; Wu N
Article: FRONTIERS IN MOLECULAR NEUROSCIENCE. 2022;15:988993
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
Schuster J; Klar J; Khalfallah A; Laan L; Hoeber J; Fatima A; Sequeira VM; Jin Z; Korol SV; Huss M; Nordgren A; Anderlid BM; Gallant C; Birnir B; Dahl N
Article: EAR AND HEARING. 2022;43(1):53-69
X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4
Smeds H; Wales J; Karltorp E; Anderlid B-M; Henricson C; Asp F; Anmyr L; Lagerstedt-Robinson K; Lofkvist U
Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Hammarsjo A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; Horemuzova E; Hyodo H; Kornejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
Article: GENOME MEDICINE. 2021;13(1):40
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2021;108(3):502-516
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Radio FC; Pang K; Ciolfi A; Levy MA; Hernandez-Garcia A; Pedace L; Pantaleoni F; Liu Z; de Boer E; Jackson A; Bruselles A; McConkey H; Stellacci E; Lo Cicero S; Motta M; Carrozzo R; Dentici ML; McWalter K; Desai M; Monaghan KG; Telegrafi A; Philippe C; Vitobello A; Au M; Grand K; Sanchez-Lara PA; Baez J; Lindstrom K; Kulch P; Sebastian J; Madan-Khetarpal S; Roadhouse C; MacKenzie JJ; Monteleone B; Saunders CJ; Cuevas JKJ; Cross L; Zhou D; Hartley T; Sawyer SL; Monteiro FP; Secches TV; Kok F; Schultz-Rogers LE; Macke EL; Morava E; Klee EW; Kemppainen J; Iascone M; Selicorni A; Tenconi R; Amor DJ; Pais L; Gallacher L; Turnpenny PD; Stals K; Ellard S; Cabet S; Lesca G; Pascal J; Steindl K; Ravid S; Weiss K; Castle AMR; Carter MT; Kalsner L; de Vries BBA; van Bon BW; Wevers MR; Pfundt R; Stegmann APA; Kerr B; Kingston HM; Chandler KE; Sheehan W; Elias AF; Shinde DN; Towne MC; Robin NH; Goodloe D; Vanderver A; Sherbini O; Bluske K; Hagelstrom RT; Zanus C; Faletra F; Musante L; Kurtz-Nelson EC; Earl RK; Anderlid B-M; Morin G; van Slegtenhorst M; Diderich KEM; Brooks AS; Gribnau J; Boers RG; Finestra TR; Carter LB; Rauch A; Gasparini P; Boycott KM; Barakat TS; Graham JMJ; Faivre L; Banka S; Wang T; Eichler EE; Priolo M; Dallapiccola B; Vissers LELM; Sadikovic B; Scott DA; Holder JLJ; Tartaglia M
Article: GENETICS IN MEDICINE. 2021;23(2):374-383
JARID2haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Verberne EA; Goh S; England J; van Ginkel M; Rafael-Croes L; Maas S; Polstra A; Zarate YA; Bosanko KA; Pechter KB; Bedoukian E; Izumi K; Chaudhry A; Robin NH; Boothe M; Lippa NC; Aggarwal V; De Vivo DC; Lehman A; Stockler S; Bruel A-L; Isidor B; Lemons J; Rodriguez-Buritica DF; Richmond CM; Stark Z; Agrawal PB; Kooy RF; Meuwissen MEC; Koolen DA; Pfundt R; Lieden A; Anderlid B-M; Glatz D; Mannens MMAM; Bakshi M; Mallette FA; van Haelst MM; Campeau PM
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2021;30:71-81
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects
Kolbjer S; Martin DA; Pettersson M; Dahlin M; Anderlid B-M
Article: EPILEPSIA. 2020;61(11):2486-2499
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study
Stodberg T; Tomson T; Barbaro M; Stranneheim H; Anderlid B-M; Carlsson S; Amark P; Wedell A
Article: NATURE COMMUNICATIONS. 2020;11(1):4932
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Dalla Bernardina B; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Nordenskjold M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Article: TRANSLATIONAL PSYCHIATRY. 2020;10(1):312
Presynaptic dysfunction inCASK-related neurodevelopmental disorders
Becker M; Mastropasqua F; Reising JP; Maier S; Ho M-L; Rabkina I; Li D; Neufeld J; Ballenberger L; Myers L; Moritz V; Kele M; Wincent J; Willfors C; Sitnikov R; Herlenius E; Anderlid B-M; Falk A; Bolte S; Tammimies K
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2020;182(5):1177-1189
Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders
Myers L; Anderlid B-M; Nordgren A; Lundin K; Kuja-Halkola R; Tammimies K; Bolte S
Article: AUTISM RESEARCH. 2020;13(2):182-186
HLA Polymorphism in Regressive and Non-Regressive Autism: A Preliminary Study
Tamouza R; Fernell E; Eriksson MA; Anderlid B-M; Manier C; Mariaselvam CM; Boukouaci W; Leboyer M; Gillberg C
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(1):e1013
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
Myers L; Blyth M; Moradkhani K; Hranilovic D; Polesie S; Isaksson J; Nordgren A; Bucan M; Vincent M; Bolte S; Anderlid B-M; Tammimies K
Article: PLOS ONE. 2020;15(2):e0228622
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Dahl S; Pettersson M; Eisfeldt J; Schroder AK; Wickstrom R; Fahnehjelm KT; Anderlid B-M; Lindstrand A
Article: GENOME MEDICINE. 2019;11(1):68
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjo A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjold M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: EXPERIMENTAL CELL RESEARCH. 2019;383(1):111469
Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
Lam M; Moslem M; Bryois J; Pronk RJ; Uhlin E; Ellstrom ID; Laan L; Olive J; Morse R; Ronnholm H; Louhivuori L; Korol SV; Dahl N; Uhlen P; Anderlid B-M; Kele M; Sullivan PF; Falk A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(6):1210-1222
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
O'Donnell-Luria AH; Pais LS; Faundes V; Wood JC; Sveden A; Luria V; Abou Jamra R; Accogli A; Amburgey K; Anderlid BM; Azzarello-Burri S; Basinger AA; Bianchini C; Bird LM; Buchert R; Carre W; Ceulemans S; Charles P; Cox H; Culliton L; Curro A; Demurger F; Dowling JJ; Duban-Bedu B; Dubourg C; Eiset SE; Escobar LF; Ferrarini A; Haack TB; Hashim M; Heide S; Helbig KL; Helbig I; Heredia R; Heron D; Isidor B; Jonasson AR; Joset P; Keren B; Kok F; Kroes HY; Lavillaureix A; Lu X; Maas SM; Maegawa GHB; Marcelis CLM; Mark PR; Masruha MR; McLaughlin HM; McWalter K; Melchinger EU; Mercimek-Andrews S; Nava C; Pendziwiat M; Person R; Ramelli GP; Ramos LLP; Rauch A; Reavey C; Renieri A; Riess A; Sanchez-Valle A; Sattar S; Saunders C; Schwarz N; Smol T; Srour M; Steindl K; Syrbe S; Taylor JC; Telegrafi A; Thiffault I; Trauner DA; van DLHJ; van Koningsbruggen S; Villard L; Vogel I; Vogt J; Weber YG; Wentzensen IM; Widjaja E; Zak J; Baxter S; Banka S; Rodan LH; Mcrae JF; Clayton S; Fitzgerald TW; Kaplanis J; Prigmore E; Rajan D; Sifrim A; Aitken S; Akawi N; Alvi M; Ambridge K; Barrett DM; Bayzetinova T; Jones P; Jones WD; King D; Krishnappa N; Mason LE; Singh T; Tivey AR; Ahmed M; Anjum U; Archer H; Armstrong R; Awada J; Balasubramanian M; Banka S; Baralle D; Barnicoat A; Batstone P; Baty D; Bennett C; Berg J; Bernhard B; Bevan AP; Bitner-Glindzicz M; Blair E; Blyth M; Bohanna D; Bourdon L; Bourn D; Bradley L; Brady A; Brent S; Brewer C; Brunstrom K; Bunyan DJ; Burn J; Canham N; Castle B; Chandler K; Chatzimichali E; Cilliers D; Clarke A; Clasper S; Clayton-Smith J; Clowes V; Coates A; Cole T; Colgiu I; Collins A; Collinson MN; Connell F; Cooper N; Cox H; Cresswell L; Cross G; Crow Y; D'Alessandro M; Dabir T; Davidson R; Davies S; de Vries D; Dean J; Deshpande C; Devlin G; Dixit A; Dobbie A; Donaldson A; Donnai D; Donnelly D; Donnelly C; Douglas A; Douzgou S; Duncan A; Eason J; Ellard S; Ellis I; Elmslie F; Evans K; Everest S; Fendick T; Fisher R; Flinter F; Foulds N; Fry A; Fryer A; Gardiner C; Gaunt L; Ghali N; Gibbons R; Gill H; Goodship J; Goudie D; Gray E; Green A; Greene P; Greenhalgh L; Gribble S; Harrison R; Harrison L; Harrison V; Hawkins R; He L; Hellens S; Henderson A; Hewitt S; Hildyard L; Hobson E; Holden S; Holder M; Holder S; Hollingsworth G; Homfray T; Humphreys M; Hurst J; Hutton B; Ingram S; Irving M; Islam L; Jackson A; Jarvis J; Jenkins L; Johnson D; Jones E; Josifova D; Joss S; Kaemba B; Kazembe S; Kelsell R; Kerr B; Kingston H; Kini U; Kinning E; Kirby G; Kirk C; Kivuva E; Kraus A; Kumar D; Kumar VKA; Lachlan K; Lam W; Lampe A; Langman C; Lees M; Lim D; Longman C; Lowther G; Lynch SA; Magee A; Maher E; Male A; Mansour S; Marks K; Martin K; Maye U; McCann E; McConnell V; McEntagart M; McGowan R; McKay K; McKee S; McMullan DJ; McNerlan S; McWilliam C; Mehta S; Metcalfe K; Middleton A; Miedzybrodzka Z; Miles E; Mohammed S; Montgomery T; Moore D; Morgan S; Morton J; Mugalaasi H; Murday V; Murphy H; Naik S; Nemeth A; Nevitt L; Newbury-Ecob R; Norman A; O'Shea R; Ogilvie C; Ong K-R; Park S-M; Parker MJ; Patel C; Paterson J; Payne S; Perrett D; Phipps J; Pilz DT; Pollard M; Pottinger C; Poulton J; Pratt N; Prescott K; Price S; Pridham A; Procter A; Purnell H; Quarrell O; Ragge N; Rahbari R; Randall J; Rankin J; Raymond L; Rice D; Robert L; Roberts E; Roberts J; Roberts P; Roberts G; Ross A; Rosser E; Saggar A; Samant S; Sampson J; Sandford R; Sarkar A; Schweiger S; Scott R; Scurr I; Selby A; Seller A; Sequeira C; Shannon N; Sharif S; Shaw-Smith C; Shearing E; Shears D; Sheridan E; Simonic I; Singzon R; Skitt Z; Smith A; Smith K; Smithson S; Sneddon L; Splitt M; Squires M; Stewart F; Stewart H; Straub V; Suri M; Sutton V; Swaminathan GJ; Sweeney E; Tatton-Brown K; Taylor C; Taylor R; Tein M; Temple IK; Thomson J; Tischkowitz M; Tomkins S; Torokwa A; Treacy B; Turner C; Turnpenny P; Tysoe C; Vandersteen A; Varghese V; Vasudevan P; Vijayarangakannan P; Vogt J; Wakeling E; Wallwark S; Waters J; Weber A; Wellesley D; Whiteford M; Widaa S; Wilcox S; Wilkinson E; Williams D; Williams N; Wilson L; Woods G; Wragg C; Wright M; Yates L; Yau M; Nellaker C; Parker M; Firth HV; Wright CF; FitzPatrick DR; Barrett JC; Hurles ME
Article: BIOLOGICAL PSYCHIATRY. 2019;85(4):287-297
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Van Dijck A; Vulto-van Silfhout AT; Cappuyns E; van der Werf IM; Mancini GM; Tzschach A; Bernier R; Gozes I; Eichler EE; Romano C; Lindstrand A; Nordgren A; Kvarnung M; Kleefstra T; de Vries BBA; Kury S; Rosenfeld JA; Meuwissen ME; Vandeweyer G; Kooy RF; Bakshi M; Wilson M; Berman Y; Dickson R; Fransen E; Helsmoortel C; Van den Ende J; Van der Aa N; van de Wijdeven MJ; Rosenblum J; Monteiro F; Kok F; Quercia N; Bowdin S; Dyment D; Chitayat D; Alkhunaizi E; Boonen SE; Keren B; Jacquette A; Faivre L; Bezieau S; Isidor B; Riess A; Moog U; Lynch SA; McVeigh T; Elpeleg O; Smeland MF; Fannemel M; van Haeringen A; Maas SM; Veenstra-Knol HE; Schouten M; Willemsen MH; Marcelis CL; Ockeloen C; van der Burgt I; Feenstra I; van der Smagt J; Jezela-Stanek A; Krajewska-Walasek M; Gonzalez-Lamuno D; Anderlid B-M; Malmgren H; Nordenskjold M; Clement E; Hurst J; Metcalfe K; Mansour S; Lachlan K; Clayton-Smith J; Hendon LG; Abdulrahman OA; Morrow E; McMillan C; Gerdts J; Peeden J; Vergano SAS; Valentino C; Chung WK; Ozmore JR; Bedrosian-Sermone S; Dennis A; Treat K; Hughes SS; Safina N; Le Pichon J-B; McGuire M; Infante E; Madan-Khetarpal S; Desai S; Benke P; Krokosky A; Cristian I; Baker L; Gripp K; Stessman HA; Eichenberger J; Jayakar P; Pizzino A; Manning MA; Slattery L
Article: FRONTIERS IN GENETICS. 2019;10:896
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186
Kvarnung M; Shahsavani M; Taylan F; Moslem M; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B-M; Nordenskjold M; Lundberg ES; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
Article: FRONTIERS IN GENETICS. 2019;10:593
NRXN1 Deletion and Exposure to Methylmercury Increase Astrocyte Differentiation by Different Notch-Dependent Transcriptional Mechanisms
Raciti M; Selma J; Spulber S; Gaudenzi G; Khalajzeyqami Z; Conti M; Anderlid B-M; Falk A; Hermanson O; Ceccatelli S
Article: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. 2018;60(12):1251-1255
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae
Danielsson A; Anderlid B-M; Stodberg T; Lagerstedt-Robinson K; Arrhenius EK; Tedroff K
Article: CLINICAL GENETICS. 2018;94(6):528-537
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability
Kvarnung M; Taylan F; Nilsson D; Anderlid B-M; Malmgren H; Lagerstedt-Robinson K; Holmberg E; Burstedt M; Nordenskjoeld M; Nordgren A; Lundberg ES
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2018;103(5):666-678
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig KL; Lauerer RJ; Bahr JC; Souza IA; Myers CT; Uysal B; Schwarz N; Gandini MA; Huang S; Keren B; Mignot C; Afenjar A; de Villemeur TB; Heron D; Nava C; Valence S; Buratti J; Fagerberg CR; Soerensen KP; Kibaek M; Kamsteeg E-J; Koolen DA; Gunning B; Schelhaas HJ; Kruer MC; Fox J; Bakhtiari S; Jarrar R; Padilla-Lopez S; Lindstrom K; Jin SC; Zeng X; Bilguvar K; Papavasileiou A; Xin Q; Zhu C; Boysen K; Vairo F; Lanpher BC; Klee EW; Tillema J-M; Payne ET; Cousin MA; Kruisselbrink TM; Wick MJ; Baker J; Haan E; Smith N; Corbett MA; MacLennan AH; Gecz J; Biskup S; Goldmann E; Rodan LH; Kichula E; Segal E; Jackson KE; Asamoah A; Dimmock D; McCarrier J; Botto LD; Filloux F; Tvrdik T; Cascino GD; Klingerman S; Neumann C; Wang R; Jacobsen JC; Nolan MA; Snell RG; Lehnert K; Sadleir LG; Anderlid B-M; Kvarnung M; Guerrini R; Friez MJ; Lyons MJ; Leonhard J; Kringlen G; Casas K; El Achkar CM; Smith LA; Rotenberg A; Poduri A; Sanchis-Juan A; Carss KJ; Rankin J; Zeman A; Raymond FL; Blyth M; Kerr B; Ruiz K; Urquhart J; Hughes I; Banka S; Hedrich UBS; Scheffer IE; Helbig I; Zamponi GW; Lerche H; Mefford HC
Article: MOLECULAR PSYCHIATRY. 2018;23(7):1674-1684
An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis
Shahsavani M; Pronk RJ; Falk R; Lam M; Moslem M; Linker SB; Salma J; Day K; Schuster J; Anderlid B-M; Dahl N; Gage FH; Falk A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2018;6(3):393-400
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene
van der Schoot V; de Munnik S; Venselaar H; Elting M; Mancini GMS; Ravenswaaij-Arts CMA; Anderlid B-M; Brunner HG; Stevens SJC
Article: TWIN RESEARCH AND HUMAN GENETICS. 2018;21(1):1-11
Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders
Stamouli S; Anderlid B-M; Willfors C; Thiruvahindrapuram B; Wei J; Berggren S; Nordgren A; Scherer SW; Lichtenstein P; Tammimies K; Bolte S
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2018;141(1):408-411.e8
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome
Bjorkman A; Du L; van der Burg M; Cormier-Daire V; Borck G; Pie J; Anderlid B-M; Hammarstrom L; Strom L; de Villartay J-P; Kipling D; Walters DD; Pan-Hammarstrom Q
Article: MOLECULAR AUTISM. 2018;9:1
Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome
Nag HE; Nordgren A; Anderlid B-M; Naerland T
Article: NATURE NEUROSCIENCE. 2017;20(8):1043-1051
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker MR; Heymann G; Wang T; Coe BP; Turner TN; Stessman HAF; Hoekzema K; Kvarnung M; Shaw M; Friend K; Liebelt J; Barnett C; Thompson EM; Haan E; Guo H; Anderlid B-M; Nordgren A; Lindstrand A; Vandeweyer G; Alberti A; Avola E; Vinci M; Giusto S; Pramparo T; Pierce K; Nalabolu S; Michaelson JJ; Sedlacek Z; Santen GWE; Peeters H; Hakonarson H; Courchesne E; Romano C; Kooy RF; Bernier RA; Nordenskjold M; Gecz J; Xia K; Zweifel LS; Eichler EE
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2017;25(8):946-951
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Weiss K; Wigby K; Fannemel M; Henderson LB; Beck N; Ghali N; Anderlid B-M; Lundin J; Hamosh A; Jones MC; Ghedia S; Muenke M; Kruszka P
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2017;173(5):1396-1399
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity
Pettersson M; Bergendal B; Norderyd J; Nilsson D; Anderlid B-M; Nordgren A; Lindstrand A
Article: NATURE GENETICS. 2017;49(4):515-526
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman HAF; Xiong B; Coe BP; Wang T; Hoekzema K; Fenckova M; Kvarnung M; Gerdts J; Trinh S; Cosemans N; Vives L; Lin J; Turner TN; Santen G; Ruivenkamp C; Kriek M; van Haeringen A; Aten E; Friend K; Liebelt J; Barnett C; Haan E; Shaw M; Gecz J; Anderlid B-M; Nordgren A; Lindstrand A; Schwartz C; Kooy RF; Vandeweyer G; Helsmoortel C; Romano C; Alberti A; Vinci M; Avola E; Giusto S; Courchesne E; Pramparo T; Pierce K; Nalabolu S; Amaral DG; Scheffer IE; Delatycki MB; Lockhart PJ; Hormozdiari F; Harich B; Castells-Nobau A; Xia K; Peeters H; Nordenskjold M; Schenck A; Bernier RA; Eichler EE
Article: HUMAN MUTATION. 2017;38(2):180-192
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
Nilsson D; Pettersson M; Gustavsson P; Forster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Makitie O; Wirta V; Kaller M; Vezzi F; Lupski JR; Nordenskjold M; Lundberg ES; Carvalho CMB; Lindstrand A
Article: TRANSLATIONAL PSYCHIATRY. 2017;7(1):e1014
Medical history of discordant twins and environmental etiologies of autism
Willfors C; Carlsson T; Anderlid B-M; Nordgren A; Kostrzewa E; Berggren S; Ronald A; Kuja-Halkola R; Tammimies K; Bolte S
Article: CHILD AND ADOLESCENT PSYCHIATRY AND MENTAL HEALTH. 2017;11:57
Minor physical anomalies in neurodevelopmental disorders: a twin study
Myers L; Anderlid B-M; Nordgren A; Willfors C; Kuja-Halkola R; Tammimies K; Bolte S
Article: OTOLOGY AND NEUROTOLOGY. 2017;38(1):38-46
X-linked Malformation and Cochlear Implantation
Smeds H; Wales J; Asp F; Lofkvist U; Falahat B; Anderlid B-M; Anmyr L; Karltorp E
Article: ULTRASOUND IN OBSTETRICS AND GYNECOLOGY. 2016;48(3):285-288
Prenatal ultrasound and childhood autism: long-term follow-up after a randomized controlled trial of first- vs second-trimester ultrasound
Carlsson LH; Saltvedt S; Anderlid B-M; Westerlund J; Gillberg C; Westgren M; Fernell E
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;98(2):373-381
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Reijnders MRF; Zachariadis V; Latour B; Jolly L; Mancini GM; Pfundt R; Wu KM; van Ravenswaaij-Arts CMA; Veenstra-Knol HE; Anderlid B-MM; Wood SA; Cheung SW; Barnicoat A; Probst F; Magoulas P; Brooks AS; Malmgren H; Harila-Saari A; Marcelis CM; Vreeburg M; Hobson E; Sutton VR; Stark Z; Vogt J; Cooper N; Lim JY; Price S; Lai AHM; Domingo D; Reversade B; Gecz J; Gilissen C; Brunner HG; Kini U; Roepman R; Nordgren A; Kleefstra T
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2016;4(1):39-45
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome
Wincent J; Luthman A; van Belzen M; van der Lans C; Albert J; Nordgren A; Anderlid B-M
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(1):51-58
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
Breckpot J; Anderlid B-M; Alanay Y; Blyth M; Brahimi A; Duban-Bedu B; Goze O; Firth H; Yakicier MC; Hens G; Rayyan M; Legius E; Vermeesch JR; Devriendt K
Article: CLINICAL GENETICS. 2016;89(1):99-103
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
Kvarnung M; Taylan F; Nilsson D; Albage M; Nordenskjold M; Anderlid BM; Nordgren A; Lundberg ES
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1165-1170
Further delineation of the KAT6B molecular and phenotypic spectrum
Gannon T; Perveen R; Schlecht H; Ramsden S; Anderson B; Kerr B; Day R; Banka S; Suri M; Berland S; Gabbett M; Ma A; Lyonnet S; Cormier-Daire V; Yilmaz R; Borck G; Wieczorek D; Anderlid B-M; Smithson S; Vogt J; Moore-Barton H; Simsek-Kiper PO; Maystadt I; Destree A; Bucher J; Angle B; Mohammed S; Wakeling E; Price S; Singer A; Sznajer Y; Toutain A; Haye D; Newbury-Ecob R; Fradin M; McGaughran J; Tuysuz B; Tein M; Bouman K; Dabir T; Van den Ende J; Luk HM; Pilz DT; Eason J; Davies S; Reardon W; Garavelli L; Zuffardi O; Devriendt K; Armstrong R; Johnson D; Doco-Fenzy M; Bijlsma E; Unger S; Veenstra-Knol HE; Kohlhase J; Lo IFM; Smith J; Clayton-Smith J
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2015;104(6):610-618
Rare copy number variants are common in young children with autism spectrum disorder
Eriksson MA; Lieden A; Westerlund J; Bremer A; Wincent J; Sahlin E; Gillberg C; Fernell E; Anderlid B-M
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2015;167(3):512-523
Copy Number Variations in Children with Brain Malformations and Refractory Epilepsy
Wincent J; Kolbjer S; Martin D; Luthman A; Amark P; Dahlin M; Anderlid B-M
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(2):111-122
CTNND2-a candidate gene for reading problems and mild intellectual disability
Hofmeister W; Nilsson D; Topa A; Anderlid B-M; Darki F; Matsson H; Paez IT; Klingberg T; Samuelsson L; Wirta V; Vezzi F; Kere J; Nordenskjold M; Lundberg ES; Lindstrand A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(12):3061-3068
3p25.3 Microdeletion of GABA Transporters SLC6A1 and SLC6A11 Results in Intellectual Disability, Epilepsy and Stereotypic Behavior
Dikow N; Maas B; Karch S; Granzow M; Janssen JWG; Jauch A; Hinderhofer K; Sutter C; Schubert-Bast S; Anderlid BM; Dallapiccola B; Van der Aa N; Moog U
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(7):1666-1676
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
Disciglio V; Lo Rizzo C; Mencarelli MA; Mucciolo M; Marozza A; Di Marco C; Massarelli A; Canocchi V; Baldassarri M; Ndoni E; Frullanti E; Amabile S; Anderlid BM; Metcalfe K; Le Caignec C; David A; Fryer A; Boute O; Joris A; Greco D; Pecile V; Battini R; Novelli A; Fichera M; Romano C; Mari F; Renieri A
Article: TWIN RESEARCH AND HUMAN GENETICS. 2014;17(3):164-176
The Roots of Autism and ADHD Twin Study in Sweden (RATSS).
Bölte S; Willfors C; Berggren S; Norberg J; Poltrago L; Mevel K; Coco C; Fransson P; Borg J; Sitnikov R; Toro R; Tammimies K; Anderlid B-M; Nordgren A; Falk A; Meyer U; Kere J; Landén M; Dalman C; Ronald A; Anckarsäter H; Lichtenstein P
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(2):425-431
Small Mosaic Deletion Encompassing the snoRNAs and SNURF-SNRPN Results in an Atypical Prader-Willi Syndrome Phenotype
Anderlid B-M; Lundin J; Malmgren H; Lehtihet M; Nordgren A
Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjold M; Makitie O; Nordgren A
Article: PLOS ONE. 2014;9(1):e85600
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36
Zaveri HP; Beck TF; Hernandez-Garcia A; Shelly KE; Montgomery T; van Haeringen A; Anderlid B-M; Patel C; Goel H; Houge G; Morrow BE; Cheung SW; Lalani SR; Scott DA
Article: CLINICAL GENETICS. 2013;84(6):539-545
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
Makrythanasis P; van Bon BW; Steehouwer M; Rodriguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EMHF; del Campo M; Cordeiro I; Cueto-Gonzalez AM; Cusco I; Deshpande C; Frysira E; Izatt L; Flores R; Galan E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis CL; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Psoni S; Reardon W; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JHM; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BBA; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(10):1085-1092
Molecular and clinical delineation of the 17q22 microdeletion phenotype
Laurell T; Lundin J; Anderlid B-M; Gorski JL; Grigelioniene G; Knight SJL; Krepischi ACV; Nordenskjold A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SCC; Blennow E; Bergmann M; Stodberg T; Makitie O; Anderlid B-M; Bryceson YT; Nordenskjold M; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2013;161A(6):1284-1290
Partial Tetrasomy 14 Associated With Multiple Malformations
Winberg J; Robinson KL; Naess K; Lesko N; Wibom R; Lieden A; Anderlid B-M; Graff C; Nordenskjoeld A; Nordgren A; Gustavsson P
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART B: NEUROPSYCHIATRIC GENETICS. 2013;162B(4):388-403
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
Bena F; Bruno DL; Eriksson M; van Ravenswaaij-Arts C; Stark Z; Dijkhuizen T; Gerkes E; Gimelli S; Ganesamoorthy D; Thuresson AC; Labalme A; Till M; Bilan F; Pasquier L; Kitzis A; Dubourgm C; Rossi M; Bottani A; Gagnebin M; Sanlaville D; Gilbert-Dussardier B; Guipponi M; van Haeringen A; Kriek M; Ruivenkamp C; Antonarakis SE; Anderlid BM; Slater HR; Schoumans J
Article: RESEARCH IN DEVELOPMENTAL DISABILITIES. 2012;33(5):1642-1648
First-degree relatives of young children with autism spectrum disorders: Some gender aspects
Eriksson MA; Westerlund J; Anderlid BM; Gillberg C; Fernell E
Article: CLINICAL GENETICS. 2012;82(3):248-255
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
Halgren C; Kjaergaard S; Bak M; Hansen C; El-Schich Z; Anderson CM; Henriksen KF; Hjalgrim H; Kirchhoff M; Bijlsma EK; Nielsen M; den Hollander NS; Ruivenkamp CAL; Isidor B; Le Caignec C; Zannolli R; Mucciolo M; Renieri A; Mari F; Anderlid B-M; Andrieux J; Dieux A; Tommerup N; Bache I
Article: NATURE GENETICS. 2012;44(8):922-927
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
Lindsay ME; Schepers D; Bolar NA; Doyle JJ; Gallo E; Fert-Bober J; Kempers MJE; Fishman EK; Chen Y; Myers L; Bjeda D; Oswald G; Elias AF; Levy HP; Anderlid B-M; Yang MH; Bongers EMHF; Timmermans J; Braverman AC; Canham N; Mortier GR; Brunner HG; Byers PH; Van Eyk J; Van Laer L; Dietz HC; Loeys BL
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2011;19(10):1032-1037
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions
Vergult S; Krgovic D; Loeys B; Lyonnet S; Lieden A; Anderlid B-M; Sharkey F; Joss S; Mortier G; Menten B
Article: PLOS GENETICS. 2011;7(7):e1002173
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome
Bonaglia MC; Giorda R; Beri S; De Agostini C; Novara F; Fichera M; Grillo L; Galesi O; Vetro A; Ciccone R; Bonati MT; Giglio S; Guerrini R; Osimani S; Marelli S; Zucca C; Grasso R; Borgatti R; Mani E; Motta C; Molteni M; Romano C; Greco D; Reitano S; Baroncini A; Lapi E; Cecconi A; Arrigo G; Patricelli MG; Pantaleoni C; D'Arrigo S; Riva D; Sciacca F; Dalla Bernardina B; Zoccante L; Darra F; Termine C; Maserati E; Bigoni S; Priolo E; Bottani A; Gimelli S; Bena F; Brusco A; di Gregorio E; Bagnasco I; Giussani U; Nitsch L; Politi P; Luisa Martinez-Frias M; Luisa Martinez-Fernandez M; Martinez Guardia N; Bremer A; Anderlid B-M; Zuffardi O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART B: NEUROPSYCHIATRIC GENETICS. 2011;156B(2):115-124
Copy Number Variation Characteristics in Subpopulations of Patients With Autism Spectrum Disorders
Bremer A; Giacobini M; Eriksson M; Gustavsson P; Nordin V; Fernell E; Gillberg C; Nordgren A; Uppstromer A; Anderlid B-M; Nordenskjold M; Schoumans J
Article: CLINICAL GENETICS. 2011;79(2):147-157
High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
Wincent J; Anderlid B-M; Lagerberg M; Nordenskjold M; Schoumans J
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2010;152A(9):2277-2286
Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
Winberg J; Gustavsson P; Lagerstedt-Robinson K; Blennow E; Lundin J; Iwarsson E; Nordenstrom A; Anderlid B-M; Bondeson M-L; Nordenskjold A; Nordgren A
Article: JOURNAL OF MEDICAL GENETICS. 2010;47(5):299-311
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
Bruno DL; Anderlid B-M; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgstrom B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BBA; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2010;152A(5):1233-1243
Molecular and Clinical Characterization of Patients With Overlapping 10p Deletions
Lindstrand A; Malmgren H; Verri A; Benetti E; Eriksson M; Nordgren A; Anderlid B-M; Golovleva I; Schoumans J; Blennow E
Article: CLINICAL GENETICS. 2010;77(2):145-154
Detailed molecular and clinical characterization of three patients with 21q deletions
Lindstrand A; Malmgren H; Sahlen S; Schoumans J; Nordgren A; Ergander U; Holm E; Anderlid BM; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART B: NEUROPSYCHIATRIC GENETICS. 2010;153B(1):280-285
Screening for Copy Number Alterations in Loci Associated With Autism Spectrum Disorders by Two-Color Multiplex Ligation-Dependent Probe Amplification
Bremer A; Giacobini M; Nordenskjold M; Brondum-Nielsen K; Mansouri M; Dahl N; Anderlid B; Schoumans J
Article: MOLECULAR SYNDROMOLOGY. 2010;1(5):246-254
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.
Wincent J; Bruno DL; van Bon BWM; Bremer A; Stewart H; Bongers EMHF; Ockeloen CW; Willemsen MH; Keays DDA; Baird G; Newbury DF; Kleefstra T; Marcelis C; Kini U; Stark Z; Savarirayan R; Sheffield LJ; Zuffardi O; Slater HR; de Vries BB; Knight SJL; Anderlid B-M; Schoumans J
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2010;53(1):50-53
De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay
Wincent J; Schoumans J; Anderlid BM
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2009;17(11):1439-1447
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA
Barbaro M; Balsamo A; Anderlid BM; Myhre AG; Gennari M; Nicoletti A; Pittalis MC; Oscarson M; Wedell A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2009;52(5):358-362
An interstitial deletion of 7.1 Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities
Bremer A; Schoumans J; Nordenskjold M; Anderlid B-M; Giacobini M
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2009;52(2-3):77-87
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
Bijlsma EK; Gijsbers ACJ; Schuurs-Hoeijmakers JHM; van Haeringen A; van de Putte DEF; Anderlid B-M; Lundin J; Lapunzina P; Perez Jurado LA; Delle Chiaie B; Loeys B; Menten B; Oostra A; Verhelst H; Amor DJ; Bruno DL; van Essen AJ; Hordijk R; Sikkema-Raddatz B; Verbruggen KT; Jongmans MCJ; Pfundt R; Reeser HM; Breuning MH; Ruivenkamp CAL
Article: CLINICAL GENETICS. 2008;74(1):61-67
Concurrent microdeletion and duplication of 22q11.2
Blennow E; Lagerstedt K; Malmgren H; Sahlen S; Schoumans J; Anderlid BM
Article: CLINICAL GENETICS. 2008;74(1):31-38
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
Wincent J; Holmberg E; Stromland K; Soller M; Mirzaei L; Djureinovic T; Robinson KL; Anderlid BM; Schoumans J
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2008;16(3):395-400
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches
Koolen DA; Sistermans EA; Nilessen W; Knight SJL; Regan R; Liu YT; Kooy RF; Rooms L; Romano C; Fichera M; Schinzel A; Baumer A; Anderlid B-M; Schoumans J; van Kessel AG; Nordenskjold M; de Vries BBA
Article: JOURNAL OF MEDICAL GENETICS. 2008;45(2):71-80
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
Maas NMC; Van Buggenhout G; Hannes F; Thienpont B; Sanlaville D; Kok K; Midro A; Andrieux J; Anderlid B-M; Schoumans J; Hordijk R; Devriendt K; Fryns J-P; Vermeesch JR
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART B: NEUROPSYCHIATRIC GENETICS. 2007;144B(3):351-354
Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD)
Zhou X-L; Giacobini M; Anderlid B-M; Anckarsater H; Omrani D; Gillberg C; Nordenskjold M; Lindblom A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2007;15(2):143-149
Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients
Schoumans J; Wincent J; Barbaro M; Djureinovic T; Maguire P; Forsberg L; Staaf J; Thuresson AC; Borg A; Nordgren A; Malm G; Anderlid BM
Article: JOURNAL OF MEDICAL GENETICS. 2006;43(10):822-828
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
Bonaglia MC; Giorda R; Mani E; Aceti G; Anderlid B-M; Baroncini A; Pramparo T; Zuffardi O
Article: NATURE GENETICS. 2006;38(9):999-1001
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
Koolen DA; Vissers LELM; Pfundt R; de Leeuw N; Knight SJL; Regan R; Kooy RF; Reyniers E; Romano C; Fichera M; Schinzel A; Baumer A; Anderlid B-M; Schoumans J; Knoers NV; van Kessel AG; Sistermans EA; Veltman JA; Brunner HG; de Vries BBA
Article: JOURNAL OF MEDICAL GENETICS. 2005;42(9):699-705
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
Schoumans J; Ruivenkamp C; Holmberg E; Kyllerman M; Anderlid BM; Nordenskjöld M
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(3):290-300
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to ∼650 kb
Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg Å; Nordenskjöld M; Anderlid BM
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2005;134A(3):254-258
Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)
Schoumans J; Sanner G; Nordenskjöld M; Anderlid BM
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(2):260-263
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome
Schoumans J; Nordgren A; Ruivenkamp C; Brondum-Nielsen K; Teh BT; Annéren G; Holmberg E; Nordenskjöld M; Anderlid BM
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2004;128A(4):340-351
Subtelomeric deletions of chromosome 9q:: A novel microdeletion syndrome
Stewart DR; Huang A; Faravelli F; Anderlid BM; Medne L; Ciprero K; Kaur M; Rossi E; Tenconi R; Nordenskjöld M; Gripp KW; Nicholson L; Meschino WS; Capua E; Quarrell OWJ; Flint J; Irons M; Giampietro PF; Schowalter DB; Zaleski CA; Malacarne M; Zackai EH; Spinner NB; Krantz ID
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2004;12(6):447-454
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size
Schoumans J; Nielsen K; Jeppesen I; Anderlid BM; Blennow E; Brondum-Nielsen K; Nordenskjöld M
Article: JOURNAL OF MEDICAL GENETICS. 2004;41(3):198-202
The performance of CGH array for the detection of cryptic constitutional chromosome imbalances
Schoumans J; Anderlid BM; Blennow E; Teh BT; Nordenskjöld M
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2003;11(1):89-92
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment
Anderlid BM; Schoumans J; Hallqvist Å; Ståhl Y; Wallin A; Blennow E; Nordenskjöld M
Article: HUMAN GENETICS. 2002;110(5):439-443
FISH-mapping of a 100-kb terminal 22q13 deletion
Anderlid BM; Schoumans J; Annerén G; Tapia-Paez I; Dumanski J; Blennow E; Nordenskjöld M
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2002;107(4):275-284
Subtelomeric rearrangements detected in patients with idiopathic mental retardation
Anderlid BM; Schoumans J; Annerén G; Sahlén S; Kyllerman M; Vujic M; Hagberg B; Blennow E; Nordenskjöld M
Article: HUMAN GENETICS. 2001;109(5):551-558
Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Grigelioniene G; Schoumans J; Neumeyer L; Ivarsson SA; Eklöf O; Enkvist O; Tordai P; Fosdal I; Myhre AG; Westphal O; Nilsson N; Elfving M; Ellis I; Anderlid BM; Fransson I; Tapia-Paez I; Nordenskjöld M; Hagenäs L; Dumanski JP
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2001;99(3):223-233
Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy
Anderlid BM; Sahlén S; Schoumans J; Holmberg E; Åhsgren I; Mortier G; Speleman F; Blennow E
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1999;87(1):49-52
Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes:: i(9p) and i(9q)
Björck EJ; Anderlid BM; Blennow E
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Review: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2023;191(7):1722-1740
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature
Gazdagh G; Hunt D; Gonzalez AMC; Rodriguez MP; Chaudhry A; Madruga M; Vansenne F; Shears D; Curie A; Stattin E-L; Anderlid B-M; Trajkova S; Angelovska ES; McWilliam C; Wyatt PR; O'Driscoll M; Atton G; Bergman AK; Zacher P; Mewasingh LD; Lopez AG-M; Alonso-Luengo O; Wai HA; Rohde O; Boiroux P; Debant A; Schmidt S; Baralle D
Letter: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2022;37:165
Letter to the Editor regarding the manuscript "Lissencephaly: Update on diagnostics and clinical management" by Koenig et al. Eur J Paediatr Neurol. 2021; 35; 147-152
Kolbjer S; Dahlin M; Anderlid B-M
Corrigendum: NATURE COMMUNICATIONS. 2020;11(1):5398
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (vol 11, 4932, 2020)
Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Nordenskjold M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
Editorial comment: STEM CELL RESEARCH. 2019;39:101518
Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant
Schuster J; Sobol M; Fatima A; Khalfallah A; Laan L; Anderlid B-M; Nordgren A; Dahl N
Corrigendum: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):562
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL; Lauerer RJ; Bahr JC; Souza IA; Myers CT; Uysal B; Schwarz N; Gandini MA; Huang S; Keren B; Mignot C; Afenjar A; Billette de Villemeur T; Héron D; Nava C; Valence S; Buratti J; Fagerberg CR; Soerensen KP; Kibaek M; Kamsteeg E-J; Koolen DA; Gunning B; Schelhaas HJ; Kruer MC; Fox J; Bakhtiari S; Jarrar R; Padilla-Lopez S; Lindstrom K; Jin SC; Zeng X; Bilguvar K; Papavasileiou A; Xing Q; Zhu C; Boysen K; Vairo F; Lanpher BC; Klee EW; Tillema J-M; Payne ET; Cousin MA; Kruisselbrink TM; Wick MJ; Baker J; Haan E; Smith N; Sadeghpour A; Davis EE; Katsanis N; Task Force for Neonatal Genomics; Corbett MA; MacLennan AH; Gecz J; Biskup S; Goldmann E; Rodan LH; Kichula E; Segal E; Jackson KE; Asamoah A; Dimmock D; McCarrier J; Botto LD; Filloux F; Tvrdik T; Cascino GD; Klingerman S; Neumann C; Wang R; Jacobsen JC; Nolan MA; Snell RG; Lehnert K; Sadleir LG; Anderlid B-M; Kvarnung M; Guerrini R; Friez MJ; Lyons MJ; Leonhard J; Kringlen G; Casas K; El Achkar CM; Smith LA; Rotenberg A; Poduri A; Sanchis-Juan A; Carss KJ; Rankin J; Zeman A; Raymond FL; Blyth M; Kerr B; Ruiz K; Urquhart J; Hughes I; Banka S; Deciphering Developmental Disorders Study; Hedrich UBS; Scheffer IE; Helbig I; Zamponi GW; Lerche H; Mefford HC
Review: LAKARTIDNINGEN. 2017;114:ELYP
[Insufficient knowledge of the relationship between sex chromosome abnormalities and psychiatric diagnoses].
Björlin Avdic H; Giacobini M; Anderlid B-M; Nordgren A; Frisén L
Corrigendum: MOLECULAR GENETICS & GENOMIC MEDICINE. 2016;4(3):367
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome (vol 4, pg 39, 2016)
Wincent J; Luthman A; van Belzen M; van der Lans C; Albert J; Nordgren A; Anderlid B-M
Letter: EUROPEAN JOURNAL OF HUMAN GENETICS. 2012;20(4):367
Nasal speech in patients with 12q15 microdeletions
Vergult S; Krgovic D; Loeys B; Lyonnet S; Lieden A; Anderlid B-M; Sharkey F; Joss S; Mortier G; Menten B
Review: LAKARTIDNINGEN. 2012;109(5):218-221
[Lactose intolerance in children is an overdiagnosed condition. Risk of missing intestinal diseases such as IBD and celiac disease].
Grimheden P; Anderlid B-M; Gåfvels M; Svahn J; Grahnquist L
Editorial comment: SEMINARS IN FETAL AND NEONATAL MEDICINE. 2011;16(2):69
Clinical perinatal genetics
Anderlid B-M; Bui T-H
Review: LAKARTIDNINGEN. 2010;107(17):1144-1149
[Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis].
Anderlid B-M; Blennow E; Giacobini M; Nordgren A; Wincent J; Schoumans J; Nordenskjöld M
Thesis / dissertation: 2001
Cryptic chromosome abnormalities in idiopathic mental retardation
Anderlid, Britt-Marie

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Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2024

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Docent, karolinska institutet, 2015
Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2002

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