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A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family
A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family
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A monoallelic variant in EYA1 is associated with Branchio‐Otic syndrome in a Malian family

Yalcouyé, Abdoulaye ; Traoré, Oumou ; Diarra, Salimata ; Schrauwen, Isabelle ; Esoh, Kevin ; Kadlubowska, Magda Kamila ; Bharadwaj, Thashi ; Adadey, Samuel Mawuli ; Kéita, Mohamed ; Guinto, Cheick O. ; Leal, Suzanne M. ; Landouré, Guida ; Wonkam, Ambroise

Molecular genetics & genomic medicine, 2022-07, Vol.10 (7), p.e1995-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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2
Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C‐reactive protein in white British population
Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C‐reactive protein in white British population
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Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C‐reactive protein in white British population

Li, Xia ; Ploner, Alexander ; Wang, Yunzhang ; Mak, Jonathan K. L. ; Lu, Yi ; Magnusson, Patrik K. E. ; Jylhävä, Juulia ; Hägg, Sara

Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2255-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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3
Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3
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Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Mohammadi, Pouria ; Salehi Siavashani, Elham ; Mohammadi, Mohammad Farid ; Bahramy, Afshin ; Almadani, Navid ; Garshasbi, Masoud

Molecular genetics & genomic medicine, 2021-11, Vol.9 (11), p.e1834-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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4
Population‐specific single‐nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans
Population‐specific single‐nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans
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Population‐specific single‐nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans

Daneshjou, Roxana ; Cavallari, Larisa H. ; Weeke, Peter E. ; Karczewski, Konrad J. ; Drozda, Katarzyna ; Perera, Minoli A. ; Johnson, Julie A. ; Klein, Teri E. ; Bustamante, Carlos D. ; Roden, Dan M. ; Shaffer, Christian ; Denny, Joshua C. ; Zehnder, James L. ; Altman, Russ B.

Molecular genetics & genomic medicine, 2016-09, Vol.4 (5), p.513-520 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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5
Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon
Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon
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Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon

Wonkam, Ambroise ; Lebeko, Kamogelo ; Mowla, Shaheen ; Noubiap, Jean Jacques ; Chong, Mike ; Pare, Guillaume

Molecular genetics & genomic medicine, 2021-03, Vol.9 (3), p.e1609-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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6
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus
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A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

Chesneau, Bertrand ; Plancke, Aurélie ; Rolland, Guillaume ; Marcheix, Bertrand ; Dulac, Yves ; Edouard, Thomas ; Plaisancié, Julie ; Aubert‐Mucca, Marion ; Julia, Sophie ; Langeois, Maud ; Lavabre‐Bertrand, Thierry ; Khau Van Kien, Philippe

Molecular genetics & genomic medicine, 2021-11, Vol.9 (11), p.e1814-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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7
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
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Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

García‐Castaño, Alejandro ; Perdomo‐Ramirez, Ana ; Vall‐Palomar, Mònica ; Ramos‐Trujillo, Elena ; Madariaga, Leire ; Ariceta, Gema ; Claverie‐Martin, Felix

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1475-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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8
Dentinogenesis imperfecta type II‐ genotype and phenotype analyses in three Danish families
Dentinogenesis imperfecta type II‐ genotype and phenotype analyses in three Danish families
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Dentinogenesis imperfecta type II‐ genotype and phenotype analyses in three Danish families

Taleb, Kawther ; Lauridsen, Eva ; Daugaard‐Jensen, Jette ; Nieminen, Pekka ; Kreiborg, Sven

Molecular genetics & genomic medicine, 2018-05, Vol.6 (3), p.339-349 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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9
Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly
Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly
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Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

Umair, Muhammad ; Wasif, Naveed ; Albalawi, Alia M. ; Ramzan, Khushnooda ; Alfadhel, Majid ; Ahmad, Wasim ; Basit, Sulman

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00627-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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10
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation
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Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation

Brunetti‐Pierri, Nicola ; Torrado, Maria ; Fernandez, Maria del Carmen ; Tello, Ana Maria ; Arberas, Claudia L. ; Cardinale, Antonella ; Piccolo, Pasquale ; Bacino, Carlos A.

Molecular genetics & genomic medicine, 2014-11, Vol.2 (6), p.467-471 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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