S. Berland

发表

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

R. Pfundt, O. Pietiläinen, A. Palotie, 2019, Genetics in Medicine.

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

A. Leutenegger, F. Clerget-Darpoux, R. Touraine, 2011, Science.

PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

G. Houge, R. Hovland, S. Berland, 2011, Molecular Syndromology.

Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature

K. Prescott, A. Fry, S. Berland, 2021, European Journal of Human Genetics.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability

R. Pfundt, N. de Leeuw, E. Bongers, 2014, American journal of medical genetics. Part A.

Mutations in EPHB4 cause human venous valve aplasia

Alberto Smith, B. Modarai, S. Mansour, 2021, JCI insight.

Evidence for anticipation in Beckwith–Wiedemann syndrome

O. Bruland, G. Houge, J. Beygo, 2013, European Journal of Human Genetics.

Truncating and zinc‐finger variants in GLI2 are associated with hypopituitarism

S. Douzgou, G. Houge, S. Berland, 2021, American journal of medical genetics. Part A.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

P. Marynen, T. Bose, M. Roselló, 2012, American journal of human genetics.

Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome

D. Wieczorek, F. Degenhardt, C. Zweier, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter-α (SLC51A) Expression

P. Dawson, A. Molven, E. Tjora, 2022, JPGN reports.

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C

G. Houge, S. Berland, 2010, Clinical dysmorphology.

LRFN5 locus structure is influenced by the individual’s sex and associated with autism

N. de Leeuw, J. Hehir-Kwa, S. Mundlos, 2021 .

Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

H. Sticht, C. Zweier, Antje Wiesener, 2022, Clinical genetics.

The intronic ABCA4 c.5461‐10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level

G. Houge, P. Knappskog, S. Berland, 2017, Acta ophthalmologica.

The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study

E. Brodtkorb, S. Berland, T. Tangeraas, 2023, Epilepsy Research.

Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature

A. Fry, S. Berland, J. Carmichael, 2021, European Journal of Human Genetics.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Timothy J. Edwards, Ryan J. Dean, H. Peeters, 2018, American journal of human genetics.

Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents

P. Njølstad, Ø. Helgeland, S. Johansson, 2020, European Journal of Human Genetics.

M. Hurles, L. Vissers, A. Hoischen, 2015, The Journal of clinical investigation.

Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay

G. Houge, P. Juliusson, S. Berland, 2020, Journal of Medical Genetics.

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.

S. Johansson, G. Houge, S. Berland, 2021, Cold Spring Harbor molecular case studies.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

R. Pfundt, B. D. de Vries, E. Zackai, 2020, Genetics in Medicine.

The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant

S. Douzgou, G. Houge, S. Berland, 2021, Cold Spring Harbor molecular case studies.

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

C. Thaller, S. Robertson, R. Hennekam, 2009, Nature Genetics.

Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

S. Johansson, B. Thompson, P. James, 2021, International journal of molecular sciences.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Prescott, N. C. Yeo, S. Nelson, 2020, medRxiv.

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Stephanie E. Vallee, S. Bale, M. Kilby, 2021, Genetics in Medicine.

Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies

O. Bruland, P. Knappskog, S. Berland, 2020, Acta ophthalmologica.

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features

W. Chung, A. Fatemi, S. Srivastava, 2017, Clinical Genetics.

Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2021, Human mutation.

EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

A. Hoischen, Shin Lin, M. Snyder, 2016, The Journal of clinical investigation.

Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy

S. Berland, D. Austeng, C. Bredrup, 2016, Ophthalmic genetics.

LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions

N. de Leeuw, J. Hehir-Kwa, S. Mundlos, 2022, Autism Research.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

A. Clarke, S. Berland, L. Greenhalgh, 2023, European Journal of Human Genetics.

M. Shinawi, B. Cogné, Georgia Vasileiou, 2023, Clinical genetics.