Connection
Holger Thiele to Male
This is a "connection" page, showing publications Holger Thiele has written about Male.
Connection Strength
2,849
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A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am J Med Genet A. 2017 Oct; 173(10):2803-2807.
Score: 0,115
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Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012 Sep; 11(9):764-73.
Score: 0,081
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Cerebral arterial stenoses and stroke: novel features of Aicardi-Gouti?res syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat. 2010 Nov; 31(11):E1836-50.
Score: 0,072
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A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem. 2004; 14(4-6):369-76.
Score: 0,045
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A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. Mol Med. 2002 Oct; 8(10):607-11.
Score: 0,041
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Familial cleft tongue caused by a unique translation initiation codon variant in TP63. Eur J Hum Genet. 2022 02; 30(2):211-218.
Score: 0,038
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A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family. Genes (Basel). 2021 09 24; 12(10).
Score: 0,038
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Biallelic variants in YRDC cause a developmental disorder with progeroid features. Hum Genet. 2021 Dec; 140(12):1679-1693.
Score: 0,038
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A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family. Genes (Basel). 2021 08 21; 12(8).
Score: 0,038
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MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease. Eur J Med Genet. 2021 Oct; 64(10):104310.
Score: 0,038
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An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families. Ann Hum Genet. 2021 09; 85(5):186-195.
Score: 0,037
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Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ. Genes (Basel). 2021 05 13; 12(5).
Score: 0,037
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Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. Am J Med Genet A. 2021 06; 185(6):1678-1690.
Score: 0,037
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Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17?hours. Am J Med Genet A. 2021 01; 185(1):90-96.
Score: 0,036
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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc Natl Acad Sci U S A. 2020 06 30; 117(26):15137-15147.
Score: 0,035
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De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. Hum Genet. 2020 Nov; 139(11):1363-1379.
Score: 0,035
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Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family. Brain Dev. 2020 Sep; 42(8):587-593.
Score: 0,035
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Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clin Genet. 2020 07; 98(1):32-42.
Score: 0,034
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Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. Hum Genet. 2020 Apr; 139(4):483-498.
Score: 0,034
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Novel mutations in SLC6A5 with benign course in hyperekplexia. Cold Spring Harb Mol Case Stud. 2019 12; 5(6).
Score: 0,034
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The genomic and clinical landscape of fetal akinesia. Genet Med. 2020 03; 22(3):511-523.
Score: 0,033
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SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Ann Neurol. 2019 09; 86(3):368-383.
Score: 0,033
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Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet. 2019 Aug; 64(8):803-813.
Score: 0,032
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The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma. Blood. 2019 02 28; 133(9):962-966.
Score: 0,031
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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet. 2018 Dec; 137(11-12):921-939.
Score: 0,031
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Exome sequencing in large, multiplex bipolar disorder families from Cuba. PLoS One. 2018; 13(10):e0205895.
Score: 0,031
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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet. 2018 11 01; 103(5):777-785.
Score: 0,031
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IG-MYC+ neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas. Blood. 2018 11 22; 132(21):2280-2285.
Score: 0,031
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Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics. 2018 12; 49(6):379-384.
Score: 0,031
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Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J Med Genet. 2019 04; 56(4):261-264.
Score: 0,031
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Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum Mutat. 2018 09; 39(9):1284-1298.
Score: 0,031
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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol. 2018 08; 17(8):699-708.
Score: 0,031
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Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. J Med Genet. 2018 09; 55(9):637-640.
Score: 0,030
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Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. Eur J Hum Genet. 2018 02; 26(2):258-264.
Score: 0,030
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Gain-of-function HCN2 variants in genetic epilepsy. Hum Mutat. 2018 02; 39(2):202-209.
Score: 0,029
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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain. 2017 Nov 01; 140(11):2879-2894.
Score: 0,029
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Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat Commun. 2017 10 10; 8(1):818.
Score: 0,029
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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 06 01; 140(6):1561-1578.
Score: 0,028
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Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE). Eur J Paediatr Neurol. 2017 Sep; 21(5):773-782.
Score: 0,028
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Mutations in ?-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J Clin Invest. 2017 Apr 03; 127(4):1485-1490.
Score: 0,028
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Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy. Free Radic Biol Med. 2017 05; 106:270-277.
Score: 0,028
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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet. 2017 Feb; 49(2):249-255.
Score: 0,027
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Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Hum Genet. 2016 Dec 01; 99(6):1292-1304.
Score: 0,027
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The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Sci Rep. 2016 11 04; 6:36208.
Score: 0,027
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Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations. PLoS One. 2016; 11(7):e0158692.
Score: 0,027
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A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival. Am J Med Genet A. 2016 09; 170(9):2436-9.
Score: 0,026
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Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy. Blood. 2016 07 21; 128(3):395-404.
Score: 0,026
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Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N Engl J Med. 2016 May 12; 374(19):1853-63.
Score: 0,026
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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. PLoS One. 2016; 11(3):e0150426.
Score: 0,026
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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016 Mar; 79(3):428-36.
Score: 0,026
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Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. Am J Med Genet A. 2016 May; 170A(5):1295-301.
Score: 0,026
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Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia. 2016 Mar; 57(3):e60-3.
Score: 0,026
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Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS One. 2016; 11(1):e0146040.
Score: 0,026
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Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res. 2016 Feb; 26(2):183-91.
Score: 0,026
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Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. Twin Res Hum Genet. 2016 Feb; 19(1):60-5.
Score: 0,026
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PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum Mutat. 2016 Feb; 37(2):170-4.
Score: 0,025
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A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum Genet. 2016 Feb; 135(2):157-70.
Score: 0,025
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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain. 2015 Nov; 138(Pt 11):3238-50.
Score: 0,025
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De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiol Aging. 2015 Nov; 36(11):3117.e1-3117.e6.
Score: 0,025
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Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. Am J Med Genet A. 2015 Nov; 167A(11):2555-62.
Score: 0,025
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Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum Genet. 2015 Jul; 134(7):691-704.
Score: 0,024
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Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Hum Mol Genet. 2015 Jul 01; 24(13):3708-17.
Score: 0,024
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Rare variants in ?-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. Ann Neurol. 2015 Jun; 77(6):972-86.
Score: 0,024
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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J Rare Dis. 2015 Feb 10; 10:15.
Score: 0,024
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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Hum Mol Genet. 2015 May 01; 24(9):2594-603.
Score: 0,024
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Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer. 2015 Jul 15; 137(2):320-31.
Score: 0,024
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BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome Res. 2015 Feb; 25(2):155-66.
Score: 0,024
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Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. Am J Hum Genet. 2014 Dec 04; 95(6):763-70.
Score: 0,024
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Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):622-32.
Score: 0,024
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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec; 46(12):1327-32.
Score: 0,024
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A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology. 2014 Dec 02; 83(23):2183-7.
Score: 0,024
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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014 Dec; 46(12):1283-1292.
Score: 0,024
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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nat Genet. 2014 Nov; 46(11):1239-44.
Score: 0,023
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Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mutat. 2014 Oct; 35(10):1153-62.
Score: 0,023
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Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia. 2014 Aug; 55(8):e89-93.
Score: 0,023
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Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? Am J Med Genet A. 2014 Oct; 164A(10):2510-3.
Score: 0,023
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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum Mol Genet. 2014 Nov 15; 23(22):5940-9.
Score: 0,023
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DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014 May; 75(5):788-92.
Score: 0,023
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Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014 Jan 02; 94(1):135-43.
Score: 0,022
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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Sep; 45(9):1067-72.
Score: 0,022
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Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. Am J Hum Genet. 2013 Sep 05; 93(3):524-9.
Score: 0,022
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CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet. 2013 Dec 20; 22(25):5199-214.
Score: 0,022
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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet. 2013 Dec 20; 22(25):5121-35.
Score: 0,022
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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11; 93(1):181-90.
Score: 0,022
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A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping. JAMA Neurol. 2013 Jun; 70(6):783-7.
Score: 0,021
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Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Hum Mutat. 2013 Jun; 34(6):860-3.
Score: 0,021
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Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol. 2013 Sep; 133(9):2202-11.
Score: 0,021
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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet. 2013 May; 45(5):531-6.
Score: 0,021
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Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A. 2013 Mar 26; 110(13):5091-6.
Score: 0,021
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Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics. 2013 Feb; 14(1):85-7.
Score: 0,021
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Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 07; 91(6):998-1010.
Score: 0,021
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A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 2012 May 04; 90(5):871-8.
Score: 0,020
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Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet. 2012 Apr 06; 90(4):661-74.
Score: 0,020
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Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating. Proc Natl Acad Sci U S A. 2012 Apr 17; 109(16):6271-6.
Score: 0,020
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Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. Am J Hum Genet. 2011 Nov 11; 89(5):668-74.
Score: 0,019
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Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. Am J Hum Genet. 2011 May 13; 88(5):621-7.
Score: 0,019
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Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura. Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 05; 147B(1):37-41.
Score: 0,015
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Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet. 2004 Aug; 75(2):251-60.
Score: 0,011
