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Search life-sciences literature (45,104,145 articles, preprints and more)

Suggested authors matching "AUTH:Bamshad M" with an ORCID

Michael Bamshad
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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, [...] Dias C
Eur J Hum Genet, 24 Oct 2024
Cited by: 1 article | PMID: 39448799
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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, [...] Robinson PN
HGG Adv, 6(1):100371, 10 Oct 2024
Cited by: 2 articles | PMID: 39394689 | PMCID: PMC11564936
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Borja NA, Tinker RJ, Bivona SA, Smith CA, Locker TK, Fernandes S, Undiagnosed Diseases Network, Phillips JA, Stoler J, Taylor H, Zuchner S, Tekin M
Am J Med Genet A, e63904, 14 Oct 2024
Cited by: 0 articles | PMID: 39400494
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SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
Wenger TL, Scott A, Kruidenier L, Sikes M, Keefe A, Buckingham KJ, Marvin CT, Shively KM, Bacus T, Sommerland OM, Anderson K, Gildersleeve H, Davis CJ, Love-Nichols J, MacDuffie KE, Miller DE, Yu J, Snook A, Johnson B, [...] Bamshad MJ
medRxiv, 01 Oct 2024
Cited by: 0 articles | PPR: PPR918935
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Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.
Gall A, Bosticardo M, Ma S, Chen K, Amini K, Pala F, Delmonte OM, Wenger T, Bamshad M, Sleasman J, Blessing M, van Oers NSC, Notarangelo LD, de la Morena MT
Front Immunol, 15:1438383, 18 Sep 2024
Cited by: 0 articles | PMID: 39364398 | PMCID: PMC11448704
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Genetic modifiers of body mass index in individuals with cystic fibrosis.
Ling H, Raraigh KS, Pugh EW, Aksit MA, Zhang P, Pace RG, Faino AV, Bamshad MJ, Gibson RL, O'Neal W, Knowles MR, Blackman SM, Cutting GR, CF Genome Project
Am J Hum Genet, 111(10):2203-2218, 10 Sep 2024
Cited by: 0 articles | PMID: 39260370
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Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.
Vanlerberghe C, Jourdain AS, Frenois F, Ait-Yahya E, Bamshad M, Dieux A, Dufour W, Leduc F, Manouvrier-Hanu S, Patterson K, Ghoumid J, Escande F, Smol T, Brunelle P, Petit F
Genet Med, 26(12):101267, 10 Sep 2024
Cited by: 0 articles | PMID: 39268717
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Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena HI, De Backer J, Mosquera LM, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ, [...] Prakash SK
Am J Hum Genet, 111(10):2219-2231, 02 Sep 2024
Cited by: 0 articles | PMID: 39226896
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Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, [...] Glass IA
Rare, 2:100040, 14 Aug 2024
Cited by: 0 articles | PMID: 39421685 | PMCID: PMC11484756
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Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.
Muntadas JA, Hyland MR, Martínez MDRO, Young JN, Chong JX, Bamshad MJ, Maselli RA
BMC Med Genomics, 17(1):207, 12 Aug 2024
Cited by: 0 articles | PMID: 39135055 | PMCID: PMC11318227
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Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
Morimoto M, Ryu E, Steger BJ, Dixit A, Saito Y, Yoo J, van der Ven AT, Hauser N, Steinbach PJ, Oura K, Huang AY, Kortüm F, Ninomiya S, Rosenthal EA, Robinson HK, Guegan K, Denecke J, Subramony SH, Diamonstein CJ, [...] Malicdan MCV
Am J Hum Genet, 111(9):1970-1993, 05 Aug 2024
Cited by: 0 articles | PMID: 39106866
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Undiagnosed Diseases Network, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, [...] Martinez-Agosto JA
Genet Med, 26(11):101218, 19 Jul 2024
Cited by: 1 article | PMID: 39036895
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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Undiagnosed Diseases Network, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, [...] Campeau PM
Pediatr Neurol, 160:45-53, 20 Jul 2024
Cited by: 0 articles | PMID: 39181022
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The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, [...] Tümer Z
Clin Genet, 106(5):574-584, 11 Jul 2024
Cited by: 0 articles | PMID: 38988293
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Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Blue EE, Moore KJ, North KE, Desrosiers TA, Carmichael SL, White JJ, Chong JX, Bamshad MJ, Jenkins MM, Almli LM, Brody LC, Freedman SF, Reefhuis J, Romitti PA, Shaw GM, Werler M, Kay DM, Browne ML, Feldkamp ML, [...] National Birth Defects Prevention Study
Birth Defects Res, 116(7):e2384, 01 Jul 2024
Cited by: 0 articles | PMID: 38990107
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Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
McNamee L, Schoch K, Huang A, Lee H, Wang LK, Smith EC, Lark RK, Buckley AF, Jobanputra V, Nelson SF, Shashi V, Undiagnosed Diseases Network
Am J Med Genet A, 194(11):e63798, 24 Jun 2024
Cited by: 0 articles | PMID: 38924341
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The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones.
Mulvihill JJ, Findley L, Ni W, Sinsheimer JS, Cole FS, Esteves C, Bernstein JA, Newman JH, Wheeler MT, Mokry JR, Undiagnosed Diseases Network
Genet Med, 26(10):101203, 02 Jul 2024
Cited by: 0 articles | PMID: 38967101
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, Bamshad MJ, Rehm HL
Genet Med, 26(10):101199, 26 Jun 2024
Cited by: 1 article | PMID: 38944749
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Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Morali B, Miranda V, Raelson J, Grimard G, Glavas P, Audibert F, Dumont NA, Barone J, Bamshad M, Lemyre E, Campeau PM
Clin Genet, 106(4):483-487, 10 Jun 2024
Cited by: 0 articles | PMID: 38856159
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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Undiagnosed Diseases Network, Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ
Genet Med, 26(9):101174, 03 Jun 2024
Cited by: 0 articles | PMID: 38847193
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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Werren EA, Peirent ER, Jantti H, Guxholli A, Srivastava KR, Orenstein N, Narayanan V, Wiszniewski W, Dawidziuk M, Gawlinski P, Umair M, Khan A, Khan SN, Geneviève D, Lehalle D, van Gassen KLI, Giltay JC, Oegema R, van Jaarsveld RH, [...] Bielas SL
Cell Death Dis, 15(5):379, 30 May 2024
Cited by: 1 article | PMID: 38816421 | PMCID: PMC11140003
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery
Danis D, Bamshad MJ, Bridges Y, Cacheiro P, Carmody LC, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, [...] Robinson PN
medRxiv, 29 May 2024
Cited by: 0 articles | PPR: PPR859722
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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, [...] Barton GM
J Exp Med, 221(8):e20232005, 23 May 2024
Cited by: 5 articles | PMID: 38780621 | PMCID: PMC11116816
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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, [...] Wheeler MT
Genet Med, 26(9):101166, 17 May 2024
Cited by: 1 article | PMID: 38767059
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The clinical utility of sequencing the entirety of CFTR.
Sheridan MB, Aksit MA, Pagel K, Hetrick K, Shultz-Lutwyche H, Myers B, Buckingham KJ, Pace RG, Ling H, Pugh E, O'Neal WK, Bamshad MJ, Gibson RL, Knowles MR, Blackman SM, Cutting GR, Raraigh KS
J Cyst Fibros, 23(4):707-715, 11 May 2024
Cited by: 0 articles | PMID: 38734509
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1-25 of 516 results

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Search life-sciences literature (45,104,145 articles, preprints and more)

Suggested authors matching "AUTH:Bamshad M" with an ORCID

Search results

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a <i>TP63</i> variant and severe persistent T cell lymphopenia.

Genetic modifiers of body mass index in individuals with cystic fibrosis.

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.

Dual diagnosis of <i>UQCRFS1</i>-related mitochondrial complex III deficiency and recessive <i>GJA8</i>-related cataracts.

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones.

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

The clinical utility of sequencing the entirety of CFTR.

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Suggested authors matching "AUTH:Bamshad M" with an ORCID Suggested authors have linked their articles in Europe PMC to their ORCID iD. Up to two suggested authors with a matching surname and initial are shown, ordered by the total number of publications they have in Europe PMC.

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