Research & Clinical Summary

The genetic components of developmental programs used to build human limbs and hearts.

Interests: Genetic Disease, Genomics

Publications

The following publications were retrieved from PubMed:

Pinard A, Fiander MDJ, Cecchi AC, Rideout AL, Azouz M, Fraser SM, McNeely PD, Walling S, Novara SC, Hurst ACE, Guo D, Parkash S, Bamshad MJ, Nickerson DA, Vandersteen AM, Milewicz DM,
“Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.”
Neurology 96.13 (2021 Mar 30): e1783-e1791.

Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA, University of Washington Center for Mendelian Genomics (UW-CMG)., Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C,
“Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.”
Journal of inherited metabolic disease 44.4 (2021 Jul): 987-1000.

Allenspach EJ, Soveg F, Finn LS, So L, Gorman JA, Rosen ABI, Skoda-Smith S, Wheeler MM, Barrow KA, Rich LM, Debley JS, Bamshad MJ, Nickerson DA, Savan R, Torgerson TR, Rawlings DJ,
“Germline SAMD9L truncation variants trigger global translational repression.”
The Journal of experimental medicine 218.5 (2021 May 3): .

Hildebrandt CC, Patel N, Graham JM Jr, Bamshad M, Nickerson DA, White JJ, Marvin CT, Miller DE, University of Washington Center for Mendelian Genomics., Grand KL, Sanchez-Lara PA, Schweitzer D, Al-Zaidan HI, Al Masseri Z, Alkuraya FS, Lin AE,
“Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.”
American journal of medical genetics. Part A 185.7 (2021 Jul): 2136-2149.

Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, University of Washington Center for Mendelian Genomics., Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D,
“TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.”
HGG advances 2.1 (2021 Jan 14): .

Graustein AD, Berrington WR, Buckingham KJ, Nguyen FK, Joudeh LL, Rosenfeld M, Bamshad MJ, Gibson RL, Hawn TR, Emond MJ,
“Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis.”
American journal of respiratory cell and molecular biology 65.2 (2021 Aug): 157-166.

Ushiki A, Zhang Y, Xiong C, Zhao J, Georgakopoulos-Soares I, Kane L, Jamieson K, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics., Shen Y, Lettice LA, Silveira-Lucas EL, Petit F, Ahituv N,
“Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia.”
Nature communications 12.1 (2021 Apr 16): 2282.

Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A, University of Washington Center for Mendelian Genomics., Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM,
“Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.”
Journal of human genetics . (2021 Apr 21): .

Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, University of Washington Center for Mendelian Genomics (UW-CMG)., Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH,
“A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.”
American journal of human genetics 108.6 (2021 Jun 3): 1040-1052.

Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Chen SL, Storm PB, Diluna ML, Matouk CC, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC, Kahle KT,
“DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.”
JAMA neurology 78.8 (2021 Aug 1): 993-1003.

Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A, University of Washington Center for Mendelian Genomics., Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM,
“Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.”
Journal of human genetics . (2021 Jun 16): .

Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ, Nouel-Saied LM, Nasir A, Everard JL, Pollock LM, Zhu S, Bamshad MJ, Nickerson DA, Ali RH, Ullah A, Wali A, Ali G, Santos-Cortez RLP, Ahmed ZM, McDermott BM Jr, Ansar M, Riazuddin S, Ahmad W, Leal SM,
“ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.”
European journal of human genetics : EJHG . (2021 Jun 16): .

Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS, University of Washington Center for Mendelian Genomics., King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE,
“Targeted long-read sequencing identifies missing disease-causing variation.”
American journal of human genetics 108.8 (2021 Aug 5): 1436-1449.

Hirsch SD, Elling CL, Bootpetch TC, Scholes MA, Hafrén L, Streubel SO, Pine HS, Wine TM, Szeremeta W, Prager JD, Einarsdottir E, Yousaf A, Baschal EE, Rehman S, Bamshad MJ, Nickerson DA, Riazuddin S, Leal SM, Ahmed ZM, Yoon PJ, Kere J, Chan KH, Mattila PS, Friedman NR, Chonmaitree T, Frank DN, Ryan AF, Santos-Cortez RLP,
“The role of CDHR3 in susceptibility to otitis media.”
Journal of molecular medicine (Berlin, Germany) . (2021 Jul 28): .

Rosenfeld M, Faino AV, Onchiri F, Aksit MA, Blackman SM, Blue EE, Collaco JM, Gordon WW, Pace RG, Raraigh KS, Zhou YH, Cutting GR, Knowles MR, Bamshad MJ, Gibson RL,
“Comparing encounter-based and annualized chronic pseudomonas infection definitions in cystic fibrosis.”
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society . (2021 Aug 12): .