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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
Adnp Consortium, Van Dijck A, Vulto-van Silfhout At, Cappuyns E, Van Der Werf Im, Mancini Gm, et al
Biological psychiatry 2019;85(4):287-297

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Deciphering Developmental Disorders Study, Causes Study, Cogné B, Ehresmann S, Beauregard-lacroix E, Rousseau J, et al
American journal of human genetics 2019;104(3):530-541

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen S, Hoischen A, Coe Bp, Carvill Gl, Van Esch H, Bosch Dgm, et al
European journal of human genetics : EJHG 2018;26(1):54-63

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Task Force For Neonatal Genomics, Deciphering Developmental Disorders Study, Helbig Kl, Lauerer Rj, Bahr Jc, Souza Ia, et al
American journal of human genetics 2018;103(5):666-678

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 Bm, Malmgren H, Lagerstedt-robinson K, et al
Clinical genetics 2018;94(6):528-537

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang H, Salter Cg, Refai O, Hardy H, Barwick Kes, Akpulat U, et al
Brain : a journal of neurology 2017;140(11):2838-2850

Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Uk10k Consortium, Bengani H, Handley M, Alvi M, Ibitoye R, Lees M, et al
Genetics in medicine : official journal of the American College of Medical Genetics 2017;19(8):900-908

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
Deciphering Developmental Disorders Study, Jansen S, Geuer S, Pfundt R, Brough R, Ghongane P, et al
American journal of human genetics 2017;100(4):650-658

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, et al
Circulation 2017;136(11):1037-1048

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker Mr, Heymann G, Wang T, Coe Bp, Turner Tn, Stessman Haf, et al
Nature neuroscience 2017;20(8):1043-1051

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
Bramswig Nc, Lüdecke Hj, Pettersson M, Albrecht B, Bernier Ra, Cremer K, et al
Human genetics 2017;136(2):179-192

Intellectual Disability & Rare Disorders: A Diagnostic Challenge
Kvarnung M, Nordgren A
Advances in experimental medicine and biology 2017;1031():39-54

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Stessman Ha, Xiong B, Coe Bp, Wang T, Hoekzema K, Fenckova M, et al
Nature genetics 2017;49(4):515-526

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Stessman Haf, Willemsen Mh, Fenckova M, Penn O, Hoischen A, Xiong B, et al
American journal of human genetics 2016;98(3):541-552

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid Bm, et al
Clinical genetics 2016;89(1):99-103

Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome
Liedén A, Kvarnung M, Nilssson D, Sahlin E, Lundberg Es
American journal of medical genetics. Part A 2014;164A(12):3083-7

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 Sc, Blennow E, et al
Journal of medical genetics 2013;50(8):521-8

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype
Kvarnung M, Lindstrand A, Malmgren H, Thåström A, Jacobson L, Dahl N, et al
American journal of medical genetics. Part A 2012;158A(5):1111-7

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