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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Scientific reports, 2024-05, Vol.14 (1), p.11239-11239, Article 11239

2024

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Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1703-n/a

2021

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COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes

Stroke (1970), 2021-10, Vol.52 (10), p.e624-e625

2021

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Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Clinical genetics, 2023-12, Vol.104 (6), p.686-693

2023

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Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

Clinical genetics, 2020-11, Vol.98 (5), p.493-498

2020

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Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

Clinical Medicine Insights: Reproductive Health, 2014-01, Vol.2014 (2014), p.45-49

2014

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More invasive procedures are done to detect each case of Down's syndrome in younger women

Acta obstetricia et gynecologica Scandinavica, 2011-06, Vol.90 (6), p.642-647

2011

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False-negative results in routine combined first-trimester screening for down syndrome in Finland

American journal of perinatology, 2012-03, Vol.29 (3), p.211-216

2012

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More invasive procedures are done to detect each case of Down's syndrome in younger women: Invasive procedures in Down's screening

Acta obstetricia et gynecologica Scandinavica, 2011-06, Vol.90 (6), p.642-647

2011

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UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

American journal of medical genetics, 2004-04, Vol.126A (3), p.248-252

2004

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An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

Human genetics, 2000-07, Vol.107 (1), p.83-85

2000

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Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor β3 subunit deletions

Annals of neurology, 2001-01, Vol.49 (1), p.110-113

2001

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Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor ?3 subunit deletions

Annals of neurology, 2001-01, Vol.49 (1), p.110-113

2001

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Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

Clinical medicine insights. Reproductive health, 2014-07, Vol.2014 (8), p.45-49

2014

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A molecular and cytogenetic study in Finnish Prader-Willi patients

Human genetics, 1995-05, Vol.95 (5), p.568-571

1995

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UBE3A gene mutations in finnish angelman syndrome patients detected by conformation sensitive gel electrophoresis

American journal of medical genetics, 2004, Vol.124A (3), p.248-252

2004

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Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic Strokes

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease

Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectualdisability, dysautonomia, epilepsy, and eye abnormalities (HIDEAsyndrome)

Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

More invasive procedures are done to detect each case of Down's syndrome in younger women

False-negative results in routine combined first-trimester screening for down syndrome in Finland

More invasive procedures are done to detect each case of Down's syndrome in younger women: Invasive procedures in Down's screening

UBE3A gene mutations in finnish Angelman syndrome patients detected by conformation sensitive gel electrophoresis

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor β3 subunit deletions

Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABAA receptor ?3 subunit deletions

Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

A molecular and cytogenetic study in Finnish Prader-Willi patients

UBE3A gene mutations in finnish angelman syndrome patients detected by conformation sensitive gel electrophoresis

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