K. Lindstrom

发表

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Low bone mineral density is a common finding in patients with homocystinuria.

P. Kaplan, M. Levine, C. Ficicioglu, 2016, Molecular genetics and metabolism.

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction*♦

D. Laird, Qing Shao, J. Juusola, 2016, The Journal of Biological Chemistry.

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.

J. Rosenfeld, B. D. de Vries, E. Zackai, 2016, American journal of human genetics.

Disruption of the transcription factor NEUROD2 causes an autism syndrome via cell-autonomous defects in cortical projection neurons

J. Rosenfeld, A. Represa, B. Jacq, 2020 .

Loss of the transcription factor NEUROD2 causes a spectrum of neurobehavioral phenotypes in mice and humans

J. Rosenfeld, A. Represa, A. Bosio, 2019, bioRxiv.

Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights

K. Lindstrom, L. Polgreen, M. Muñoz-Rojas, 2018, BMC Endocrine Disorders.

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

L. Garavelli, P. Nikkels, M. Castori, 2022, Genes.

A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy

D. Valle, T. Yuzyuk, K. Lindstrom, 2022, Molecular genetics and metabolism reports.

Title: Loss of the transcription factor NEUROD2 causes a spectrum of neurobehavioral phenotypes in mice and humans

Dina, A. Represa, A. Bosio, 2019 .

The landscape of epilepsy-related GATOR1 variants

A. Biraben, F. Bartolomei, P. Striano, 2018, Genetics in Medicine.

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

H. Andersson, Janet A. Thomas, D. Adams, 2021, Molecular genetics and metabolism reports.

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes.

L. Vissers, D. Wieczorek, D. Chitayat, 2019, Kidney international.

A germline variant in PANX1 has reduced channel function and is associated with multisystem dysfunction

D. Laird, Qing Shao, J. Juusola, 2016 .

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

S. Scherer, L. Vissers, R. Pfundt, 2021, American journal of human genetics.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Marni J. Falk, E. Zackai, C. Cytrynbaum, 2021, American journal of medical genetics. Part A.

Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

J. Rosenfeld, A. Represa, B. Jacq, 2021, Molecular Psychiatry.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

C. Cytrynbaum, R. Weksberg, R. Kingston, 2020, American journal of human genetics.

Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.

J. F. Kerrigan, T. Grebe, B. Appavu, 2016, Epileptic disorders : international epilepsy journal with videotape.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.

Fajr A. Aleisa, J. Rosenfeld, A. Bye, 2019, American journal of human genetics.

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

A. V. Vulto-van Silfhout, L. Vissers, B. D. de Vries, 2021, European Journal of Human Genetics.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Michael T. Zimmermann, Nikita R. Dsouza, A. Green, 2020, Genetics in Medicine.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

S. Nelson, J. Graham, J. Martinez-Agosto, 2018, Genetics in Medicine.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

R. Pfundt, A. Wilkie, K. Gripp, 2021, Human mutation.

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Emily K. Mis, W. Ji, M. Konstantino, 2018, Journal of Medical Genetics.

De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease

J. Lupski, S. Bale, S. Lalani, 2016, Human Genetics.

Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

P. Kishnani, K. Lindstrom, L. Pollard, 2020, Frontiers in Immunology.

Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data

B. Burton, K. Lindstrom, K. Cook, 2022, Molecular genetics and metabolism reports.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Correction to: The landscape of epilepsy-related GATOR1 variants

Anne de Saint Martin, A. Biraben, F. Bartolomei, 2018, Genetics in Medicine.