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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Nature genetics, 2005-09, Vol.37 (9), p.931-933

2005

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Genetic heterogeneity among fanconi anemia heterozygotes and risk of cancer

Cancer research (Chicago, Ill.), 2007-10, Vol.67 (19), p.9591-9596

2007

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Nature genetics, 2009-07, Vol.41 (7), p.849-853

2009

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Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Nature genetics, 2007-02, Vol.39 (2), p.162-164

2007

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The spectrum of SCNIA-related infantile epileptic encephalopathies

Brain (London, England : 1878), 2007-03, Vol.130, p.843-852

2007

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The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

American journal of human genetics, 2014-08, Vol.95 (2), p.143-161

2014

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A 20-year perspective on the International Fanconi Anemia Registry (IFAR)

Blood, 2003-02, Vol.101 (4), p.1249-1256

2003

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P650: Myotonic dystrophy type 1 genetic testing in over 30,000 patients: Does size matter as patients get older?

Genetics in Medicine Open, 2024, Vol.2, p.101555, Article 101555

2024

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Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

American journal of human genetics, 2007-05, Vol.80 (5), p.895-910

2007

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GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

Neurogenetics, 2010-10, Vol.11 (4), p.465-470

2010

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Somatic Mosaicism in Fanconi Anemia: Evidence of Genotypic Reversion in Lymphohematopoietic Stem Cells

Proceedings of the National Academy of Sciences - PNAS, 2001-02, Vol.98 (5), p.2532-2537

2001

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A Rapid Method for Retrovirus-Mediated Identification of Complementation Groups in Fanconi Anemia Patients

Molecular therapy, 2005-11, Vol.12 (5), p.976-984

2005

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Novel MPZ mutations and congenital hypomyelinating neuropathy

Neuromuscular disorders : NMD, 2010-11, Vol.20 (11), p.725-729

2010

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Limbic encephalitis in a child with ovarian teratoma and influenza B. Case report and critical review of the history of autoimmune anti-N-methyl-d-aspartate receptor encephalitis

Journal of neuroimmunology, 2021-11, Vol.360, p.577716, Article 577716

2021

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eP387: Genetic testing for spinocerebellar ataxias in pediatric patients

Genetics in medicine, 2022-03, Vol.24 (3), p.S244-S245

2022

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Myelin oligodendrocyte glycoprotein (MOG) antibodies: results from first 1,045 specimens tested at a clinical reference laboratory (4606)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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Distribution of mutations associated with congenital myasthenic syndromes (CMS): results from the first 54 specimens tested at a clinical reference laboratory (4638)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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Cerebrospinal fluid AΒ 42 , total tau, and phosphorylated tau in the evaluation of Alzheimer’s dementia: Experience from a commercial reference laboratory

Alzheimer's & dementia, 2021-12, Vol.17 (S5)

2021

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Cerebrospinal fluid AΒ42, total tau, and phosphorylated tau in the evaluation of Alzheimer’s dementia: Experience from a commercial reference laboratory

Alzheimer's & dementia, 2021-12, Vol.17, p.n/a

2021

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HTT CAG Repeat Length Variation in Huntington Disease (HD) Patients: Experience from a US Reference Laboratory (2376)

Neurology, 2021-04, Vol.96 (15_supplement)

2021

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LRP4 antibody testing in myasthenia gravis

Journal of neuroimmunology, 2022-10, Vol.371, p.577949-577949, Article 577949

2022

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Sequence Variation in the Fanconi Anemia Gene FAA

Proceedings of the National Academy of Sciences - PNAS, 1997-11, Vol.94 (24), p.13051-13056

1997

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GST genotype may modify clinical phenotype in patients with Fanconi anaemia

British journal of haematology, 2005-10, Vol.131 (1), p.118-122

2005

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Analysis of 234 Epilepsy Genes for Sequence and Copy Number Variants Using Next Generation Sequencing (P2.288)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Genetic heterogeneity among fanconi anemia heterozygotes and risk of cancer

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

The spectrum of SCNIA-related infantile epileptic encephalopathies

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

A 20-year perspective on the International Fanconi Anemia Registry (IFAR)

P650: Myotonic dystrophy type 1 genetic testing in over 30,000 patients: Does size matter as patients get older?

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease

Somatic Mosaicism in Fanconi Anemia: Evidence of Genotypic Reversion in Lymphohematopoietic Stem Cells

A Rapid Method for Retrovirus-Mediated Identification of Complementation Groups in Fanconi Anemia Patients

Novel MPZ mutations and congenital hypomyelinating neuropathy

Limbic encephalitis in a child with ovarian teratoma and influenza B. Case report and critical review of the history of autoimmune anti-N-methyl-d-aspartate receptor encephalitis

eP387: Genetic testing for spinocerebellar ataxias in pediatric patients

Myelin oligodendrocyte glycoprotein (MOG) antibodies: results from first 1,045 specimens tested at a clinical reference laboratory (4606)

Distribution of mutations associated with congenital myasthenic syndromes (CMS): results from the first 54 specimens tested at a clinical reference laboratory (4638)

Cerebrospinal fluid AΒ 42 , total tau, and phosphorylated tau in the evaluation of Alzheimer’s dementia: Experience from a commercial reference laboratory

Cerebrospinal fluid AΒ42, total tau, and phosphorylated tau in the evaluation of Alzheimer’s dementia: Experience from a commercial reference laboratory

HTT CAG Repeat Length Variation in Huntington Disease (HD) Patients: Experience from a US Reference Laboratory (2376)

LRP4 antibody testing in myasthenia gravis

Sequence Variation in the Fanconi Anemia Gene FAA

GST genotype may modify clinical phenotype in patients with Fanconi anaemia

Analysis of 234 Epilepsy Genes for Sequence and Copy Number Variants Using Next Generation Sequencing (P2.288)

CSF biomarker variability in the Alzheimer's Association quality control program

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