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Items: 1 to 50 of 147

1.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network, Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA.

Biol Psychiatry. 2019 Jun 29. pii: S0006-3223(19)31479-9. doi: 10.1016/j.biopsych.2019.05.028. [Epub ahead of print]

PMID:
31443933
2.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM.

Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25.

PMID:
31353023
3.

Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.

Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT 2nd.

Am J Med Genet A. 2019 Jun;179(6):1047-1052. doi: 10.1002/ajmg.a.61145. Epub 2019 Apr 2.

PMID:
30941910
4.

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.

Cheon S, Kaur K, Nijem N, Tuncay IO, Kumar P, Dean M, Juusola J, Guillen-Sacoto MJ, Bedoukian E, Ierardi-Curto L, Kaplan P, Schaefer GB, Mishra P, Chahrour MH.

Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3662-3667. doi: 10.1073/pnas.1818751116. Epub 2019 Feb 11.

5.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009. No abstract available.

6.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2018 Dec 6;103(6):1054-1055.

7.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Mar;21(3):764-765. doi: 10.1038/s41436-018-0326-8.

PMID:
30275510
8.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2019 Apr;21(4):867-876. doi: 10.1038/s41436-018-0269-0. Epub 2018 Sep 7. Erratum in: Genet Med. 2019 Mar;21(3):764-765.

PMID:
30190611
9.

McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders.

Walters WD, Garnica AD, Schaefer GB.

Semin Pediatr Neurol. 2018 Jul;26:50-51. doi: 10.1016/j.spen.2017.03.004. Epub 2017 Apr 1.

PMID:
29961518
10.

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.

Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R.

Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.

PMID:
29925855
11.

A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.

Nembhard WN, Tang X, Li J, MacLeod SL, Levy J, Schaefer GB, Hobbs CA; National Birth Defects Prevention Study.

Am J Med Genet A. 2018 Mar;176(3):609-617. doi: 10.1002/ajmg.a.38611. Epub 2018 Feb 5.

12.

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA.

Am J Med Genet A. 2017 Oct;173(10):2814-2820. doi: 10.1002/ajmg.a.38404. Epub 2017 Aug 17.

PMID:
28815955
13.

A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.

Hardin JS, Schaefer GB, Sallam AB, Williams MK, Uwaydat S.

Ophthalmic Genet. 2017 Dec;38(6):570-574. doi: 10.1080/13816810.2017.1318926. Epub 2017 May 8.

PMID:
28481155
14.

A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team.

Kubendran S, Sivamurthy S, Schaefer GB.

Genet Med. 2017 Nov;19(11):1260-1267. doi: 10.1038/gim.2017.45. Epub 2017 Apr 27.

15.

Erythropoietin and Brain Magnetic Resonance Imaging Findings in Hypoxic-Ischemic Encephalopathy: Volume of Acute Brain Injury and 1-Year Neurodevelopmental Outcome.

Mulkey SB, Ramakrishnaiah RH, McKinstry RC, Chang T, Mathur AM, Mayock DE, Van Meurs KP, Schaefer GB, Luo C, Bai S, Juul SE, Wu YW.

J Pediatr. 2017 Jul;186:196-199. doi: 10.1016/j.jpeds.2017.03.053. Epub 2017 Apr 26.

PMID:
28456387
16.

Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.

Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio D.

Am J Med Genet A. 2017 May;173(5):1378-1382. doi: 10.1002/ajmg.a.38181. Epub 2017 Mar 28.

PMID:
28371479
17.

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.

Vivero M, Cho MT, Begtrup A, Wentzensen IM, Walsh L, Payne K, Zarate YA, Bosanko K, Schaefer GB, DeBrosse S, Pollack L, Mason K, Retterer K, DeWard S, Juusola J, Chung WK.

Clin Genet. 2017 Jun;91(6):929-931. doi: 10.1111/cge.12899. Epub 2017 Jan 30. No abstract available.

PMID:
28133733
19.

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

Lam WW, Millichap JJ, Soares DC, Chin R, McLellan A, FitzPatrick DR, Elmslie F, Lees MM, Schaefer GB; DDD study, Abbott CM.

Mol Genet Genomic Med. 2016 Apr 3;4(4):465-74. doi: 10.1002/mgg3.219. eCollection 2016 Jul.

20.

Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.

Sellars EA, Sullivan BR, Schaefer GB.

Clin Case Rep. 2016 Jun 10;4(7):696-8. doi: 10.1002/ccr3.598. eCollection 2016 Jul.

21.

Lessons from a pair of siblings with BPAN.

Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC.

Eur J Hum Genet. 2016 Jul;24(7):1095. doi: 10.1038/ejhg.2015.274. No abstract available.

22.

In memory of Murray Feingold (1930-2015).

Schaefer GB, Nowak CB, Olney AH.

Am J Med Genet A. 2016 Jul;170(7):1727-31. doi: 10.1002/ajmg.a.37729. Epub 2016 May 5. No abstract available.

PMID:
27149416
23.

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

Tanaka AJ, Cho MT, Retterer K, Jones JR, Nowak C, Douglas J, Jiang YH, McConkie-Rosell A, Schaefer GB, Kaylor J, Rahman OA, Telegrafi A, Friedman B, Douglas G, Monaghan KG, Chung WK.

Cold Spring Harb Mol Case Stud. 2016 Jan;2(1):a000661. doi: 10.1101/mcs.a000661.

24.

Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.

Steinfeld H, Cho MT, Retterer K, Person R, Schaefer GB, Danylchuk N, Malik S, Wechsler SB, Wheeler PG, van Gassen KL, Terhal PA, Verhoeven VJ, van Slegtenhorst MA, Monaghan KG, Henderson LB, Chung WK.

Neurogenetics. 2016 Jul;17(3):159-64. doi: 10.1007/s10048-016-0479-z. Epub 2016 Mar 22.

25.

Clinical Genetic Aspects of ASD Spectrum Disorders.

Schaefer GB.

Int J Mol Sci. 2016 Jan 29;17(2). pii: E180. doi: 10.3390/ijms17020180. Review. Erratum in: Int J Mol Sci. 2016;17(9). pii: E1572. doi: 10.3390/ijms17091572.

26.

A specific mutation in TBL1XR1 causes Pierpont syndrome.

Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC.

J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14. Erratum in: J Med Genet. 2016 Jun;53(6):430.

27.

Lessons from a pair of siblings with BPAN.

Zarate YA, Jones JR, Jones MA, Millan F, Juusola J, Vertino-Bell A, Schaefer GB, Kruer MC.

Eur J Hum Genet. 2016 Jul;24(7):1080-3. doi: 10.1038/ejhg.2015.242. Epub 2015 Nov 18. Erratum in: Eur J Hum Genet. 2016 Jul;24(7):1095.

28.

Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.

Rush ET, Schaefer GB, Sanger WG, Coccia PF.

Cytogenet Genome Res. 2015;147(1):31-4. doi: 10.1159/000441585. Epub 2015 Nov 17.

PMID:
26571231
29.

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

Starr LJ, Grange DK, Delaney JW, Yetman AT, Hammel JM, Sanmann JN, Perry DA, Schaefer GB, Olney AH.

Am J Med Genet A. 2015 Dec;167A(12):2893-901. doi: 10.1002/ajmg.a.37273. Epub 2015 Sep 30.

PMID:
26420300
30.

What is the role of clinical genetics in the patient-centered medical home?: A commentary from the Medical Home Workgroup of the Heartland Regional Genetics and Newborn Screening Collaborative.

Schaefer GB, Larson IA, Bolick J, Williamson-Dean L.

Genet Med. 2016 May;18(5):440-2. doi: 10.1038/gim.2015.113. Epub 2015 Aug 20. No abstract available.

PMID:
26291599
31.

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Zarate YA, Bosanko KA, Bhoj E, Ganetzky R, Starr LJ, Zackai EH, Schaefer GB.

Am J Med Genet A. 2015 Sep;167A(9):2168-75. doi: 10.1002/ajmg.a.37126. Epub 2015 Apr 25.

32.

Bilateral familial nevus of Ota.

Goyal S, Uwaydat SH, Phillips PH, Schaefer GB.

J AAPOS. 2014 Dec;18(6):609-10. doi: 10.1016/j.jaapos.2014.07.169. Epub 2014 Nov 13.

PMID:
25448143
33.

Editorial comment: Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis.

Schaefer GB.

Semin Pediatr Neurol. 2014 Jun;21(2):172. doi: 10.1016/j.spen.2014.05.003. Epub 2014 May 14. No abstract available.

PMID:
25149957
34.

A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.

Sellars EA, Bosanko KA, Lepard T, Garnica A, Schaefer GB.

Semin Pediatr Neurol. 2014 Jun;21(2):84-7. doi: 10.1016/j.spen.2014.04.007. Epub 2014 Apr 13.

PMID:
25149931
35.

Editorial comment: An unusual cause of peroneal neuropathy.

Schaefer GB.

Semin Pediatr Neurol. 2014 Jun;21(2):82-3. doi: 10.1016/j.spen.2014.05.002. Epub 2014 May 14. No abstract available.

PMID:
25149930
36.

Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature.

Zarate YA, Lepard T, Sellars E, Kaylor JA, Alfaro MP, Sailey C, Schaefer GB, Collins RT 2nd.

Am J Med Genet A. 2014 Aug;164A(8):1998-2002. doi: 10.1002/ajmg.a.36601. Epub 2014 May 20. Review.

PMID:
24844942
37.

Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.

Zarate YA, Bell C, Schaefer GB.

Cleft Palate Craniofac J. 2015 Mar;52(2):237-9. doi: 10.1597/13-221. Epub 2014 May 7.

PMID:
24805776
38.

Adults' perceptions of genetic counseling and genetic testing.

Houfek JF, Soltis-Vaughan BS, Atwood JR, Reiser GM, Schaefer GB.

Appl Nurs Res. 2015 Feb;28(1):25-30. doi: 10.1016/j.apnr.2014.03.001. Epub 2014 Mar 13.

PMID:
24794711
39.

Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.

Zarate YA, Shur N, Robin A, Garnica AD, Quintos JB, Schaefer GB.

J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):951-5. doi: 10.1515/jpem-2013-0484.

PMID:
24756053
40.

Secondary complex chromosome rearrangement identified by chromosome analysis and FISH subsequent to detection of an unbalanced derivative chromosome 12 by SNP array analysis.

Burnside RD, Spudich L, Rush B, Kubendran S, Schaefer GB.

Cytogenet Genome Res. 2014;142(2):129-33. doi: 10.1159/000356558. Epub 2013 Dec 6.

PMID:
24335332
41.

Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.

Deacon BS, Lowery RS, Phillips PH, Schaefer GB.

J AAPOS. 2013 Jun;17(3):332-3. doi: 10.1016/j.jaapos.2013.02.003. Epub 2013 May 16.

PMID:
23683649
42.

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee.

Genet Med. 2013 May;15(5):399-407. doi: 10.1038/gim.2013.32. Epub 2013 Mar 21. Erratum in: Genet Med. 2013 Aug;15(8):669.

PMID:
23519317
43.

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.

de Ruijter J, de Ru MH, Wagemans T, Ijlst L, Lund AM, Orchard PJ, Schaefer GB, Wijburg FA, van Vlies N.

Mol Genet Metab. 2012 Dec;107(4):705-10. doi: 10.1016/j.ymgme.2012.09.024. Epub 2012 Sep 28.

PMID:
23084433
44.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M.

J Med Genet. 2012 Jul;49(7):473-9. doi: 10.1136/jmedgenet-2012-101008.

PMID:
22791840
45.

Quantitative cranial magnetic resonance imaging in neonatal hypoxic-ischemic encephalopathy.

Mulkey SB, Yap VL, Swearingen CJ, Riggins MS, Kaiser JR, Schaefer GB.

Pediatr Neurol. 2012 Aug;47(2):101-8. doi: 10.1016/j.pediatrneurol.2012.05.009.

46.

Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.

Sanmann JN, Bishay DL, Starr LJ, Bell CA, Pickering DL, Stevens JM, Kahler SG, Olney AH, Schaefer GB, Sanger WG.

Am J Med Genet A. 2012 Jun;158A(6):1285-91. doi: 10.1002/ajmg.a.35347. Epub 2012 May 11.

PMID:
22581587
47.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group.

Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.

48.

Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.

Sanmann JN, Schaefer GB, Buehler BA, Sanger WG.

J Child Neurol. 2012 Mar;27(3):346-54. doi: 10.1177/0883073811424796. Epub 2011 Nov 28. Review.

PMID:
22123427
49.

Recognition, diagnosis and treatment of fetal alcohol syndrome.

Schaefer GB, Deere D.

J Ark Med Soc. 2011 Aug;108(2):38-40.

PMID:
21902001
50.

Response to ACMG Practice Guidelines and ACMG Standards and Guidelines, Genetics in Medicine, July 2010, volume 12, number 7, pages 446-463 and 464-470.

Schaefer GB.

Genet Med. 2010 Nov;12(11):748-9. doi: 10.1097/GIM.0b013e3181fa238a. No abstract available.

PMID:
21068577

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