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Items: 1 to 50 of 123

1.

Rhizomelic Chondrodysplasia Punctata Type 1.

Braverman NE, Steinberg SJ, Fallatah W, Duker A, Bober M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2001 Nov 16 [updated 2020 Jan 30].

2.

Defining the clinical phenotype of Saul-Wilson syndrome.

Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA 3rd, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB.

Genet Med. 2020 Jan 17. doi: 10.1038/s41436-019-0737-1. [Epub ahead of print]

PMID:
31949312
3.

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.

Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH; Members of the BBD Consortium, Nagamani SCS, Raggio C.

Am J Med Genet A. 2019 Dec 26. doi: 10.1002/ajmg.a.61464. [Epub ahead of print]

PMID:
31876392
4.

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.

Duker AL, Niiler T, Kinderman D, Schouten M, Poll-The BT, Braverman N, Bober MB.

Am J Med Genet A. 2020 Mar;182(3):579-583. doi: 10.1002/ajmg.a.61413. Epub 2019 Nov 25. No abstract available.

PMID:
31769196
5.

Improving Interdisciplinary Communication Using a Group Work Program Software Application.

Aufderheide S, Dus JE, Fitzgerald K, Bober M.

Prof Case Manag. 2020 Jan/Feb;25(1):48-52. doi: 10.1097/NCM.0000000000000412. No abstract available.

PMID:
31764719
6.

Blood pressure in adults with short stature skeletal dysplasias.

Hoover-Fong J, Alade AY, Ain M, Berkowitz I, Bober M, Carter E, Hecht J, Hoerschemeyer D, Krakow D, MacCarrick G, Mackenzie WG, Mendoza R, Okenfuss E, Popplewell D, Raggio C, Schulze K, McGready J.

Am J Med Genet A. 2020 Jan;182(1):150-161. doi: 10.1002/ajmg.a.61402. Epub 2019 Nov 15.

PMID:
31729121
7.

Visual Semantic Information Pursuit: A Survey.

Liu D, Bober M, Kittler J.

IEEE Trans Pattern Anal Mach Intell. 2019 Oct 30. doi: 10.1109/TPAMI.2019.2950025. [Epub ahead of print]

PMID:
31675316
8.

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.

Abousamra O, Kandula V, Duker AL, Rogers KJ, Bober MB, Mackenzie WG.

J Pediatr Orthop. 2019 Oct;39(9):e680-e686. doi: 10.1097/BPO.0000000000001014.

PMID:
31503224
9.

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V.

RNA. 2019 Sep;25(9):1130-1149. doi: 10.1261/rna.071423.119. Epub 2019 Jun 7.

10.

Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.

Bayhan IA, Abousamra O, Rogers KJ, Bober MB, Miller F, Mackenzie WG.

J Pediatr Orthop. 2019 Jul;39(6):282-288. doi: 10.1097/BPO.0000000000000945.

PMID:
31169747
11.

REMAP: Multi-layer entropy-guided pooling of dense CNN features for image retrieval.

Husain SS, Bober M.

IEEE Trans Image Process. 2019 May 22. doi: 10.1109/TIP.2019.2917234. [Epub ahead of print]

PMID:
31135362
12.

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.

Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC, Raggio CL.

JBMR Plus. 2019 Jan 7;3(5):e10118. doi: 10.1002/jbm4.10118. eCollection 2019 May.

13.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM.

Hum Mutat. 2019 Aug;40(8):1063-1070. doi: 10.1002/humu.23776. Epub 2019 Jun 23.

14.

Mobility in osteogenesis imperfecta: a multicenter North American study.

Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF.

Genet Med. 2019 Oct;21(10):2311-2318. doi: 10.1038/s41436-019-0491-4. Epub 2019 Mar 28.

PMID:
30918359
15.

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.

Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium.

Genet Med. 2019 Sep;21(9):2070-2080. doi: 10.1038/s41436-019-0446-9. Epub 2019 Jan 30.

PMID:
30696995
16.

Prevalence of mental health conditions and pain in adults with skeletal dysplasia.

Jennings SE, Ditro CP, Bober MB, Mackenzie WG, Rogers KJ, Conway L, Duker AL.

Qual Life Res. 2019 Jun;28(6):1457-1464. doi: 10.1007/s11136-019-02102-2. Epub 2019 Jan 14.

PMID:
30637564
17.

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.

18.

New bounds on dark matter coupling from a global network of optical atomic clocks.

Wcisło P, Ablewski P, Beloy K, Bilicki S, Bober M, Brown R, Fasano R, Ciuryło R, Hachisu H, Ido T, Lodewyck J, Ludlow A, McGrew W, Morzyński P, Nicolodi D, Schioppo M, Sekido M, Le Targat R, Wolf P, Zhang X, Zjawin B, Zawada M.

Sci Adv. 2018 Dec 7;4(12):eaau4869. doi: 10.1126/sciadv.aau4869. eCollection 2018 Dec.

19.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP.

Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29.

20.

PCNT point mutations and familial intracranial aneurysms.

Lorenzo-Betancor O, Blackburn PR, Edwards E, Vázquez-do-Campo R, Klee EW, Labbé C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA.

Neurology. 2018 Dec 4;91(23):e2170-e2181. doi: 10.1212/WNL.0000000000006614. Epub 2018 Nov 9. Erratum in: Neurology. 2019 Jul 30;93(5):231.

21.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

22.

Multicenter study of mortality in achondroplasia.

Hashmi SS, Gamble C, Hoover-Fong J, Alade AY, Pauli RM, Modaff P, Carney M, Brown C, Bober MB, Hecht JT.

Am J Med Genet A. 2018 Nov;176(11):2359-2364. doi: 10.1002/ajmg.a.40528. Epub 2018 Oct 1.

PMID:
30276962
23.

A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations.

Santana A, Franzone JM, McGreal CM, Kruse RW, Bober MB.

Bone Rep. 2018 Sep 15;9:132-135. doi: 10.1016/j.bonr.2018.09.002. eCollection 2018 Dec.

24.

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.

Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B; Members of the Brittle Bone Disorders Consortium, Rush ET, Nagamani SCS.

Clin Genet. 2018 Dec;94(6):502-511. doi: 10.1111/cge.13440. Epub 2018 Sep 24.

25.

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.

Savarirayan R, Rossiter JP, Hoover-Fong JE, Irving M, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium.

Am J Obstet Gynecol. 2018 Dec;219(6):545-562. doi: 10.1016/j.ajog.2018.07.017. Epub 2018 Jul 23. Review.

PMID:
30048634
26.

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.

Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR; , Members of the Brittle Bone Disorders Consortium*,, Nagamani SCS.

Genet Med. 2019 Feb;21(2):275-283. doi: 10.1038/s41436-018-0045-1. Epub 2018 Jul 4.

27.

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M.

Am J Med Genet A. 2018 Feb;176(2):465-469. doi: 10.1002/ajmg.a.38581. Epub 2017 Dec 19.

28.

Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.

Hurd LM, Thacker MM, Okenfuss E, Duker AL, Lou Y, Harty MP, Conard K, Lian JB, Bober MB.

Am J Med Genet A. 2017 Dec;173(12):3205-3210. doi: 10.1002/ajmg.a.38498. Epub 2017 Oct 28.

29.

Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II.

Duker AL, Niiler T, Bober MB.

Am J Med Genet A. 2017 Nov;173(11):3067-3069. doi: 10.1002/ajmg.a.38467. Epub 2017 Sep 22. No abstract available.

PMID:
28940990
30.

Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: revision rate and effect on fracture rate.

Franzone JM, Bober MB, Rogers KJ, McGreal CM, Kruse RW.

J Child Orthop. 2017 Jun 1;11(3):185-190. doi: 10.1302/1863-2548.11.160214.

31.

Arthroscopic knee anatomy in young achondroplasia patients.

Del Pilar Duque Orozco M, Record NC, Rogers KJ, Bober MB, Mackenzie WG, Atanda A Jr.

J Child Orthop. 2017 Jun 1;11(3):169-174. doi: 10.1302/1863-2548.11.160168.

32.

Best practices in peri-operative management of patients with skeletal dysplasias.

White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC; Skeletal Dysplasia Management Consortium.

Am J Med Genet A. 2017 Oct;173(10):2584-2595. doi: 10.1002/ajmg.a.38357. Epub 2017 Aug 1.

PMID:
28763154
33.

Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Bober MB, Jackson AP.

Curr Osteoporos Rep. 2017 Aug;15(4):399. doi: 10.1007/s11914-017-0389-5. No abstract available.

34.

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.

Abousamra O, Kandula V, Duker AL, Rogers KJ, Bober MB, Mackenzie WG.

J Pediatr Orthop. 2017 Jun 13. doi: 10.1097/BPO.0000000000001014. [Epub ahead of print]

PMID:
28614284
35.

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.

Martin CA, Murray JE, Carroll P, Leitch A, MacKenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study,, Wood AJ, Vagnarelli P, Jackson AP.

Genes Dev. 2017 May 1;31(9):953. doi: 10.1101/gad.300871.117. No abstract available.

36.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Bober MB, Jackson AP.

Curr Osteoporos Rep. 2017 Apr;15(2):61-69. doi: 10.1007/s11914-017-0348-1. Review. Erratum in: Curr Osteoporos Rep. 2017 Jul 15;:.

37.

Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns.

Theroux MC, Lopez M, Olszewsky PJ, DiCindio S, Arai L, Ditro C, Bober MB, Olla OO, Uejima T, West DW, Mackenzie WG.

Paediatr Anaesth. 2017 Jun;27(6):596-603. doi: 10.1111/pan.13101. Epub 2017 Mar 21.

PMID:
28321993
38.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

Reynolds JJ, Bicknell LS, Carroll P, Higgs MR, Shaheen R, Murray JE, Papadopoulos DK, Leitch A, Murina O, Tarnauskaitė Ž, Wessel SR, Zlatanou A, Vernet A, von Kriegsheim A, Mottram RM, Logan CV, Bye H, Li Y, Brean A, Maddirevula S, Challis RC, Skouloudaki K, Almoisheer A, Alsaif HS, Amar A, Prescott NJ, Bober MB, Duker A, Faqeih E, Seidahmed MZ, Al Tala S, Alswaid A, Ahmed S, Al-Aama JY, Altmüller J, Al Balwi M, Brady AF, Chessa L, Cox H, Fischetto R, Heller R, Henderson BD, Hobson E, Nürnberg P, Percin EF, Peron A, Spaccini L, Quigley AJ, Thakur S, Wise CA, Yoon G, Alnemer M, Tomancak P, Yigit G, Taylor AM, Reijns MA, Simpson MA, Cortez D, Alkuraya FS, Mathew CG, Jackson AP, Stewart GS.

Nat Genet. 2017 Apr;49(4):537-549. doi: 10.1038/ng.3790. Epub 2017 Feb 13.

39.

Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.

Bayhan IA, Abousamra O, Rogers KJ, Bober MB, Miller F, Mackenzie WG.

J Pediatr Orthop. 2017 Jan 30. doi: 10.1097/BPO.0000000000000945. [Epub ahead of print]

PMID:
28141691
40.

Improving Large-Scale Image Retrieval Through Robust Aggregation of Local Descriptors.

Husain SS, Bober M.

IEEE Trans Pattern Anal Mach Intell. 2017 Sep;39(9):1783-1796. doi: 10.1109/TPAMI.2016.2613873. Epub 2016 Sep 27.

PMID:
28114059
41.

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study, Wood AJ, Vagnarelli P, Jackson AP.

Genes Dev. 2016 Oct 1;30(19):2158-2172. Epub 2016 Oct 13. Erratum in: Genes Dev. 2017 May 1;31(9):953.

42.

Turn: Weak Interactions and Rotational Barriers in Molecules-Insights from Substituted Butynes.

Omorodion O, Bober M, Donald KJ.

J Phys Chem A. 2016 Nov 10;120(44):8896-8906. Epub 2016 Oct 31.

PMID:
27715041
43.

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB.

Am J Med Genet A. 2017 Jan;173(1):108-113. doi: 10.1002/ajmg.a.37961. Epub 2016 Sep 12.

PMID:
27616591
44.

Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.

Teo M, Johnson JN, Bell-Stephens TE, Marks MP, Do HM, Dodd RL, Bober MB, Steinberg GK.

J Neurosurg Pediatr. 2016 Dec;25(6):717-723. Epub 2016 Sep 9.

PMID:
27611897
45.

Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia.

Atanda A Jr, Wallace M, Bober MB, Mackenzie W.

J Pediatr Orthop. 2016 Jul-Aug;36(5):e55-8. doi: 10.1097/BPO.0000000000000622.

PMID:
27276636
46.

Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations.

Tomatsu S, Sawamoto K, Shimada T, Bober MB, Kubaski F, Yasuda E, Mason RW, Khan S, Alméciga-Díaz CJ, Barrera LA, Mackenzie WG, Orii T.

Expert Opin Orphan Drugs. 2015 Nov 1;3(11):1279-1290. Epub 2015 Oct 29.

47.

Metatropic dysplasia is associated with increased fracture risk.

Bober MB, Duker AL, Carney M, Ditro CP, Rogers K, Mackenzie WG.

Am J Med Genet A. 2016 May;170A(5):1373-6. doi: 10.1002/ajmg.a.37576. Epub 2016 Jan 29. No abstract available.

PMID:
26823048
48.

Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?".

White KK, Savarirayan R, Goldberg MJ, MacKenzie W, Bompadre V, Bober MB, Cho TJ, Hoover-Fong J, Parnell SE, Raggio C, Spencer SA, Campbell JW, Rapoport DM, Kifle Y, Blackledge M.

Am J Med Genet A. 2016 Apr;170A(4):1101-3. doi: 10.1002/ajmg.a.37546. Epub 2016 Jan 11. No abstract available.

PMID:
26754314
49.

Absolute measurement of the 1S0 - 3P0 clock transition in neutral 88Sr over the 330 km-long stabilized fibre optic link.

Morzyński P, Bober M, Bartoszek-Bober D, Nawrocki J, Krehlik P, Śliwczyński Ł, Lipiński M, Masłowski P, Cygan A, Dunst P, Garus M, Lisak D, Zachorowski J, Gawlik W, Radzewicz C, Ciuryło R, Zawada M.

Sci Rep. 2015 Dec 7;5:17495. doi: 10.1038/srep17495.

50.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP.

Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23.

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