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Items: 1 to 50 of 311

1.

Mendelian Gene Discovery: Fast and Furious with No End in Sight.

Bamshad MJ, Nickerson DA, Chong JX.

Am J Hum Genet. 2019 Sep 5;105(3):448-455. doi: 10.1016/j.ajhg.2019.07.011.

PMID:
31491408
2.

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

Pinard A, Guey S, Guo D, Cecchi AC, Kharas N, Wallace S, Regalado ES, Hostetler EM, Sharrief AZ, Bergametti F, Kossorotoff M, Hervé D, Kraemer M, Bamshad MJ, Nickerson DA, Smith ER, Tournier-Lasserve E, Milewicz DM.

Genet Med. 2019 Sep 2. doi: 10.1038/s41436-019-0639-2. [Epub ahead of print]

PMID:
31474762
3.

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PMID:
31474318
4.

Dominant-negative SOX9 mutations in campomelic dysplasia.

Csukasi F, Duran I, Zhang W, Martin JH, Barad M, Bamshad M, Weis MA, Eyre D, Krakow D, Cohn DH.

Hum Mutat. 2019 Aug 7. doi: 10.1002/humu.23888. [Epub ahead of print]

PMID:
31389106
5.

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

Jenkins MM, Almli LM, Pangilinan F, Chong JX, Blue EE, Shapira SK, White J, McGoldrick D, Smith JD, Mullikin JC, Bean CJ, Nembhard WN, Lou XY, Shaw GM, Romitti PA, Keppler-Noreuil K, Yazdy MM, Kay DM, Carter TC, Olshan AF, Moore KJ, Nascone-Yoder N, Finnell RH, Lupo PJ, Feldkamp ML; NISC Comparative Sequencing Program; University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Brody LC, Reefhuis J; National Birth Defects Prevention Study.

Birth Defects Res. 2019 Jul 21. doi: 10.1002/bdr2.1554. [Epub ahead of print]

PMID:
31328417
6.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.

Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27.

PMID:
31256877
7.

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.

Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T.

Hum Mutat. 2019 Jun 18. doi: 10.1002/humu.23793. [Epub ahead of print]

PMID:
31215115
8.

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

Larson ED, Magno JPM, Steritz MJ, Llanes EGDV, Cardwell J, Pedro M, Roberts TB, Einarsdottir E, Rosanes RAQ, Greenlee C, Santos RAP, Yousaf A, Streubel SO, Santos ATR, Ruiz AG, Lagrana-Villagracia SM, Ray D, Yarza TKL, Scholes MA, Anderson CB, Acharya A; University of Washington Center for Mendelian Genomics, Gubbels SP, Bamshad MJ, Cass SP, Lee NR, Shaikh RS, Nickerson DA, Mohlke KL, Prager JD, Cruz TLG, Yoon PJ, Abes GT, Schwartz DA, Chan AL, Wine TM, Cutiongco-de la Paz EM, Friedman N, Kechris K, Kere J, Leal SM, Yang IV, Patel JA, Tantoco MLC, Riazuddin S, Chan KH, Mattila PS, Reyes-Quintos MRT, Ahmed ZM, Jenkins HA, Chonmaitree T, Hafrén L, Chiong CM, Santos-Cortez RLP.

Hum Mutat. 2019 Aug;40(8):1156-1171. doi: 10.1002/humu.23769. Epub 2019 May 21.

PMID:
31009165
9.

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.

Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM.

Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13.

PMID:
30982135
10.

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.

Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH.

J Inherit Metab Dis. 2019 Sep;42(5):993-997. doi: 10.1002/jimd.12091. Epub 2019 Apr 16.

PMID:
30945312
11.

Pattern of fos activation in the ventral tegmental area (VTA) of male prairie vole's (Microtus ochrogaster) in response to infant-related stimuli.

Lang DY, Bamshad M, Dorcely R.

Brain Res. 2019 Jul 1;1714:119-125. doi: 10.1016/j.brainres.2019.02.023. Epub 2019 Feb 26.

PMID:
30822390
12.

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.

Duan XY, Guo DC, Regalado ES, Shen H; University of Washington Center for Mendelian Genomics, Coselli JS, Estrera AL, Safi HJ, Bamshad MJ, Nickerson DA, LeMaire SA, De Backer J, Milewicz DM.

Eur J Hum Genet. 2019 Jul;27(7):1054-1060. doi: 10.1038/s41431-019-0357-x. Epub 2019 Feb 26.

PMID:
30809044
13.

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C.

Hum Genet. 2019 Mar;138(3):257-269. doi: 10.1007/s00439-019-01985-y. Epub 2019 Feb 26.

14.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

15.

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

Mackelprang RD, Bamshad MJ, Chong JX, Hou X, Buckingham KJ, Shively K, deBruyn G, Mugo NR, Mullins JI, McElrath MJ, Baeten JM, Celum C, Emond MJ, Lingappa JR; Partners in Prevention HSV/HIV Transmission Study and the Partners PrEP Study Teams.

PLoS Pathog. 2019 Feb 11;15(2):e1007588. doi: 10.1371/journal.ppat.1007588. eCollection 2019 Feb.

16.

Severe Dengue Prognosis Using Human Genome Data and Machine Learning.

Davi CCM, Pastor A, Oliveira T, Lima Neto FB, Braga-Neto U, Bigham A, Bamshad M, Marques ETA, Acioli-Santos B.

IEEE Trans Biomed Eng. 2019 Feb 4. doi: 10.1109/TBME.2019.2897285. [Epub ahead of print]

PMID:
30716030
17.

Insights into genetics, human biology and disease gleaned from family based genomic studies.

Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR; Centers for Mendelian Genomics.

Genet Med. 2019 Apr;21(4):798-812. doi: 10.1038/s41436-018-0408-7. Epub 2019 Jan 18. Review.

PMID:
30655598
18.

A content analysis of the views of genetics professionals on race, ancestry, and genetics.

Nelson SC, Yu JH, Wagner JK, Harrell TM, Royal CD, Bamshad MJ.

AJOB Empir Bioeth. 2018 Oct-Dec;9(4):222-234. doi: 10.1080/23294515.2018.1544177. Epub 2019 Jan 4.

PMID:
30608210
19.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Mefford HC, Sol-Church K.

Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13.

20.

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y.

PLoS Genet. 2018 Dec 10;14(12):e1007822. doi: 10.1371/journal.pgen.1007822. eCollection 2018 Dec.

21.

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE.

Genet Med. 2019 Jul;21(7):1611-1620. doi: 10.1038/s41436-018-0380-2. Epub 2018 Dec 3.

PMID:
30504930
22.

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

Helle E, Córdova-Palomera A, Ojala T, Saha P, Potiny P, Gustafsson S, Ingelsson E, Bamshad M, Nickerson D, Chong JX; University of Washington Center for Mendelian Genomics, Ashley E, Priest JR.

Genet Epidemiol. 2019 Mar;43(2):215-226. doi: 10.1002/gepi.22176. Epub 2018 Dec 4.

PMID:
30511478
23.

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.

Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM.

J Hum Genet. 2019 Feb;64(2):153-160. doi: 10.1038/s10038-018-0542-8. Epub 2018 Nov 30.

PMID:
30498240
24.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczałuba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS.

Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. doi: 10.1016/j.ajhg.2018.10.019. Epub 2018 Nov 21.

25.

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Hudgins L.

Am J Med Genet A. 2018 Dec;176(12):2887-2891. doi: 10.1002/ajmg.a.40647. Epub 2018 Nov 18.

PMID:
30450842
26.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB.

Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19.

27.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A.

Am J Hum Genet. 2018 Dec 6;103(6):968-975. doi: 10.1016/j.ajhg.2018.10.010. Epub 2018 Nov 7.

28.

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Santos-Cortez RLP, Chiong CM, Frank DN, Ryan AF, Giese APJ, Bootpetch Roberts T, Daly KA, Steritz MJ, Szeremeta W, Pedro M, Pine H, Yarza TKL, Scholes MA, Llanes EGDV, Yousaf S, Friedman N, Tantoco MLC, Wine TM, Labra PJ, Benoit J, Ruiz AG, de la Cruz RAR, Greenlee C, Yousaf A, Cardwell J, Nonato RMA, Ray D, Ong KMC, So E, Robertson CE, Dinwiddie J, Lagrana-Villagracia SM; University of Washington Center for Mendelian Genomics (UWCMG), Gubbels SP, Shaikh RS, Cass SP, Einarsdottir E, Lee NR, Schwartz DA, Gloria-Cruz TLI, Bamshad MJ, Yang IV, Kere J, Abes GT, Prager JD, Riazuddin S, Chan AL, Yoon PJ, Nickerson DA, Cutiongco-de la Paz EM, Streubel SO, Reyes-Quintos MRT, Jenkins HA, Mattila P, Chan KH, Mohlke KL, Leal SM, Hafrén L, Chonmaitree T, Sale MM, Ahmed ZM.

Am J Hum Genet. 2018 Nov 1;103(5):679-690. doi: 10.1016/j.ajhg.2018.09.010. Epub 2018 Oct 25.

29.

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.

Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM.

J Bone Miner Res. 2019 Feb;34(2):375-386. doi: 10.1002/jbmr.3594. Epub 2018 Nov 5.

30.

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S.

Hum Mutat. 2019 Jan;40(1):53-72. doi: 10.1002/humu.23666. Epub 2018 Nov 18.

PMID:
30303587
31.

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.

Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM; University of Washington Center for Mendelian Genomics (UWCMG) Study Group.

Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4552-4557. doi: 10.1167/iovs.18-23849.

32.

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM.

Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22.

33.

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, Munnich A, Zanlonghi X, Stevens CA, Kircher M, Nickerson DA, Buckingham KJ, Josephson KD, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH, Eklund EA.

JIMD Rep. 2019;44:85-92. doi: 10.1007/8904_2018_128. Epub 2018 Aug 17.

34.

A Qualitative Analysis of How Anthropologists Interpret the Race Construct.

Ifekwunigwe JO, Wagner JK, Yu JH, Harrell TM, Bamshad MJ, Royal CD.

Am Anthropol. 2017 Sep;119(3):422-434. doi: 10.1111/aman.12890. Epub 2017 Aug 14.

35.

Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Qiao D, Ameli A, Prokopenko D, Chen H, Kho AT, Parker MM, Morrow J, Hobbs BD, Liu Y, Beaty TH, Crapo JD, Barnes KC, Nickerson DA, Bamshad M, Hersh CP, Lomas DA, Agusti A, Make BJ, Calverley PMA, Donner CF, Wouters EF, Vestbo J, Paré PD, Levy RD, Rennard SI, Tal-Singer R, Spitz MR, Sharma A, Ruczinski I, Lange C, Silverman EK, Cho MH.

Hum Mol Genet. 2018 Nov 1;27(21):3801-3812. doi: 10.1093/hmg/ddy269.

PMID:
30060175
36.

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Irfanullah; University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Shah K, Ahmad W, Leal SM.

BMC Med Genet. 2018 Jul 20;19(1):122. doi: 10.1186/s12881-018-0618-5.

37.

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.

Schrauwen I, Chakchouk I, Liaqat K, Jan A, Nasir A, Hussain S, Nickerson DA, Bamshad MJ, Ullah A, Ahmad W, Leal SM.

Hum Genet. 2018 Jul;137(6-7):471-478. doi: 10.1007/s00439-018-1899-7. Epub 2018 Jul 3.

38.

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T.

Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24.

39.

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.

Tan KL, Haelterman NA, Kwartler CS, Regalado ES, Lee PT, Nagarkar-Jaiswal S, Guo DC, Duraine L, Wangler MF; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Lin G, Milewicz DM, Bellen HJ.

Dev Cell. 2018 Apr 23;45(2):226-244.e8. doi: 10.1016/j.devcel.2018.03.020.

40.

Plain-language medical vocabulary for precision diagnosis.

Vasilevsky NA, Foster ED, Engelstad ME, Carmody L, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, Robinson PN, Köhler S, Haendel MA.

Nat Genet. 2018 Apr;50(4):474-476. doi: 10.1038/s41588-018-0096-x. No abstract available.

41.

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK; University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM.

Am J Hum Genet. 2018 Apr 5;102(4):706-712. doi: 10.1016/j.ajhg.2018.03.002.

42.

Genetic counselors on the frontline of precision health.

Bamshad MJ, Magoulas PL, Dent KM.

Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):5-9. doi: 10.1002/ajmg.c.31610. Epub 2018 Mar 26.

43.

Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Kircher M, Ahituv N.

Hum Mutat. 2018 Jun;39(6):811-815. doi: 10.1002/humu.23417. Epub 2018 Mar 22.

44.

Physical separation from the mate diminishes male's attentiveness towards other females: a study in monogamous prairie voles Microtus ochrogaster.

Delevan CJ, Rodriguez NA, Legzim KM, Aliou F, Parker JT, Bamshad M.

Curr Zool. 2017 Oct;63(5):537-544. doi: 10.1093/cz/zow087. Epub 2016 Aug 13.

45.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

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