A. Lampe

A. Lampe, C. Schmoll, S. Young, 2021, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

CHLAMYDIA INFECTION

A. L. Wong, J. Belmont, F. Lammert, 2001 .

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

J. Gécz, B. D. de Vries, J. Clayton-Smith, 2004, Clinical genetics.

Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome

I. Tomlinson, C. Lawrence, A. Lampe, 2003, Journal of medical genetics.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

K. Devriendt, J. Clayton-Smith, S. Bhaskar, 2017, American journal of human genetics.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.

T. Timmusk, A. Lampe, J. Berg, 2016, European journal of medical genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

J. Thornton, R. Laskowski, Alison M. Male, 2017, Human molecular genetics.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Inherited Pain

A. Winterpacht, A. Kist, A. Lampert, 2013, The Journal of Biological Chemistry.

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

S. Knight, P. Hammond, S. Twigg, 2013, Nature Genetics.

De novo variants in population constrained fetal brain enhancers and intellectual disability

D. Fitzpatrick, Inês Cebola, J. Ferrer, 2019, bioRxiv.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

J. Shendure, D. Nickerson, Joshua D. Smith, 2013, American journal of human genetics.

Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

M. Shaw, J. Gécz, J. Clayton-Smith, 2002, Nature Genetics.

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Sancha Martin, E. Tobias, A. Biankin, 2022, European Journal of Human Genetics.

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Eleanor F. Dewhurst, D. Skuse, M. Owen, 2022, The lancet. Psychiatry.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

F. Cremers, C. Gilissen, C. Hoyng, 2021, Journal of Medical Genetics.

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Julian R. E. Davis, H. Randeva, R. Eeles, 2020, The Journal of clinical endocrinology and metabolism.

Guillain-Barré syndrome and SARS-CoV-2

T. Steiner, A. Lampe, Alexander Winschel, 2020, Neurological Research and Practice.

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

J. Goodship, R. Decorte, J. Atkinson, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

K. Heimdal, Soo-Mi Park, H. Firth, 2017, Journal of Medical Genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.

J. Marsh, S. Rahman, N. Foulds, 2023, European journal of medical genetics.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity1

J. Goodship, A. Blom, B. Villoutreix, 2007, The Journal of Immunology.

Pathway Cofactor Activity AlternativeSyndrome and Leads to Impaired Associated with Atypical Hemolytic Uremic ( p . Arg 240 His ) in C 4 b-Binding Protein Is A Novel Non-Synonymous Polymorphism

A. Blom, B. Villoutreix, N. Moghal, 2008 .

Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions

Eleanor F. Dewhurst, D. Skuse, M. Owen, 2023, JCPP Advances.

Borjeson-Forssman-Lehmann Syndrome and Multiple Pituitary Hormone Deficiency

A. Lampe, M. Wright, J. Gecz, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

H. Stewart, I. Maystadt, S. Joss, 2023, American journal of medical genetics. Part A.

Chronic Idiopathic Intestinal Pseudo-obstruction

A. L. Wong, J. Belmont, M. Dichgans, 2011 .

[Cutaneous amyloidoses].

A. L. Wong, J. Belmont, D. Roden, 1990, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

[Chronic venous insufficiency].

V Wienert, G Hauer, A Lentner, 1996, Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen.

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

Susan C. Brown, K. Bushby, F. Muntoni, 2004, Prenatal diagnosis.

Human Mutation MUTATION UPDATE Mutation Update for the PORCN Gene

R. Hennekam, J. Celli, R. Śmigiel, 2011 .

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Eleanor F. Dewhurst, D. Skuse, P. Holmans, 2022, The lancet. Psychiatry.